M I Kamboh

Summary

Affiliation: University of Pittsburgh
Country: USA

Publications

  1. ncbi Chimpanzee apolipoprotein H (beta2-glycoprotein I): report on the gene structure, a common polymorphism, and a high prevalence of antiphospholipid antibodies
    D K Sanghera
    Department of Human Genetics, Graduate School of Public Health, 130 DeSoto Street, University of Pittsburgh, PA 15261, USA
    Hum Genet 109:63-72. 2001
  2. ncbi Genetic association of ubiquilin with Alzheimer's disease and related quantitative measures
    M I Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Mol Psychiatry 11:273-9. 2006
  3. ncbi Alpha-1-antichymotrypsin (ACT or SERPINA3) polymorphism may affect age-at-onset and disease duration of Alzheimer's disease
    M Ilyas Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Neurobiol Aging 27:1435-9. 2006
  4. ncbi Molecular genetics of late-onset Alzheimer's disease
    M Ilyas Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Ann Hum Genet 68:381-404. 2004
  5. ncbi Genetic association of five apolipoprotein polymorphisms with serum lipoprotein-lipid levels in African blacks
    M I Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pennsylvania 15261, USA
    Genet Epidemiol 16:205-22. 1999
  6. ncbi Genome-wide association analysis of age-at-onset in Alzheimer's disease
    M I Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Mol Psychiatry 17:1340-6. 2012
  7. ncbi Cladistic analysis of human apolipoprotein a4 polymorphisms in relation to quantitative plasma lipid risk factors of coronary heart disease
    G Q Wang
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA
    Ann Hum Genet 67:107-24. 2003
  8. ncbi Genetic association studies between Alzheimer's disease and two polymorphisms in the low density lipoprotein receptor-related protein gene
    M I Kamboh
    Department of Human Genetics, Graduate School of Public Health, Pittsburgh, PA 15261, USA
    Neurosci Lett 244:65-8. 1998
  9. ncbi Plasma lipoprotein(a) distribution and its correlates among Samoans
    M I Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA
    Hum Biol 72:321-36. 2000
  10. ncbi Apolipoprotein E polymorphism and Alzheimer disease: The Indo-US Cross-National Dementia Study
    M Ganguli
    Western Psychiatric Institute and Clinic, 3811 O Hara St, Pittsburgh, PA 15213 2593, USA
    Arch Neurol 57:824-30. 2000

Collaborators

Detail Information

Publications88

  1. ncbi Chimpanzee apolipoprotein H (beta2-glycoprotein I): report on the gene structure, a common polymorphism, and a high prevalence of antiphospholipid antibodies
    D K Sanghera
    Department of Human Genetics, Graduate School of Public Health, 130 DeSoto Street, University of Pittsburgh, PA 15261, USA
    Hum Genet 109:63-72. 2001
    ..The prevalence of anti-apoH antibodies in chimpanzees may serve as a useful animal model for the human antiphospholipid syndrome, where these antibodies are associated with clinical manifestations...
  2. ncbi Genetic association of ubiquilin with Alzheimer's disease and related quantitative measures
    M I Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Mol Psychiatry 11:273-9. 2006
    ..Our haplotype data suggest the presence of additional putative functional variants either in the UBQLN1 gene or nearby genes and provide strong justification for additional work in this region on chromosome 9...
  3. ncbi Alpha-1-antichymotrypsin (ACT or SERPINA3) polymorphism may affect age-at-onset and disease duration of Alzheimer's disease
    M Ilyas Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Neurobiol Aging 27:1435-9. 2006
    ..012). These data suggest that the ACT gene may affect AAO and disease duration of AD...
  4. ncbi Molecular genetics of late-onset Alzheimer's disease
    M Ilyas Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Ann Hum Genet 68:381-404. 2004
    ..This paper attempts to review the current progress on the identification of additional genetic loci for late-onset AD...
  5. ncbi Genetic association of five apolipoprotein polymorphisms with serum lipoprotein-lipid levels in African blacks
    M I Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pennsylvania 15261, USA
    Genet Epidemiol 16:205-22. 1999
    ..These data indicate that gene-environment interaction may play an important role in affecting serum lipid profile in African populations...
  6. ncbi Genome-wide association analysis of age-at-onset in Alzheimer's disease
    M I Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Mol Psychiatry 17:1340-6. 2012
    ..These findings need to be confirmed in additional well-powered samples...
  7. ncbi Cladistic analysis of human apolipoprotein a4 polymorphisms in relation to quantitative plasma lipid risk factors of coronary heart disease
    G Q Wang
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA
    Ann Hum Genet 67:107-24. 2003
    ..Several haplotypes were identified by cladistic analysis that may carry functional mutations that affect plasma lipid trait levels...
  8. ncbi Genetic association studies between Alzheimer's disease and two polymorphisms in the low density lipoprotein receptor-related protein gene
    M I Kamboh
    Department of Human Genetics, Graduate School of Public Health, Pittsburgh, PA 15261, USA
    Neurosci Lett 244:65-8. 1998
    ..Although the effect of the exon 3 polymorphism in our sample is small compared to the previous study, this warrants additional studies to confirm this putative association...
  9. ncbi Plasma lipoprotein(a) distribution and its correlates among Samoans
    M I Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA
    Hum Biol 72:321-36. 2000
    ..These data are consistent with the hypothesis that genetic factors account for interethnic group variation in plasma Lp(a) levels...
  10. ncbi Apolipoprotein E polymorphism and Alzheimer disease: The Indo-US Cross-National Dementia Study
    M Ganguli
    Western Psychiatric Institute and Clinic, 3811 O Hara St, Pittsburgh, PA 15213 2593, USA
    Arch Neurol 57:824-30. 2000
    ..The APOE*E4 allele of the gene for apolipoprotein E (APOE) has been reported as a risk factor for Alzheimer disease (AD) to varying degrees in different ethnic groups...
  11. ncbi Genetic variation in the choline acetyltransferase (CHAT) gene may be associated with the risk of Alzheimer's disease
    Ayla Ozturk
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 DeSoto Street, 624 Parran Hall, Pittsburgh, PA 15261, USA
    Neurobiol Aging 27:1440-4. 2006
    ..0082) effects among non-APOE*4 carriers. The three CHAT SNPs also showed a modest association with MMSE score. Our data suggest that genetic variation in the CHAT gene may be associated with AD risk and quantitative traits related to AD...
  12. ncbi A novel mutation in the apolipoprotein E gene (APOE*4 Pittsburgh) is associated with the risk of late-onset Alzheimer's disease
    M I Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA
    Neurosci Lett 263:129-32. 1999
    ..1) the risk attributed to APOE*4 carriers alone (OR 5.7). Our data indicates that the new mutation most likely exists in cis-orientation with APOE*4 and is associated with increased risk of developing AD...
  13. ncbi Lack of association between alpha2-macroglobulin polymorphisms and Alzheimer's disease
    X Wang
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA
    Hum Genet 108:105-8. 2001
    ..In conclusion, we observed no association between either the intronic deletion polymorphism or the Ile1000Val polymorphism of A2M and AD in our case-control cohort...
  14. ncbi No association of SORL1 SNPs with Alzheimer's disease
    Ryan L Minster
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, United States
    Neurosci Lett 440:190-2. 2008
    ..Analysis of allele, genotype and haplotype frequencies revealed no association with LOAD risk in our cohort...
  15. ncbi Genetic variation in the cholesterol 24-hydroxylase (CYP46) gene and the risk of Alzheimer's disease
    Purnima Desai
    Department of Human Genetics, University of Pittsburgh, 130 DeSoto Street, Pittsburgh, PA 15216, USA
    Neurosci Lett 328:9-12. 2002
    ..Our data indicate that the Intron 2 polymorphism of CYP46 does not affect the risk of AD in our sample...
  16. ncbi Genetic characterization of American and Western Samoans
    R Deka
    Department of Human Genetics, University of Pittsburgh, PA 15261
    Hum Biol 66:805-22. 1994
    ..The calculated zero values of kinship coefficients and standard genetic distances indicate minimal population differentiation between the two Samoan groups...
  17. ncbi Replication study of genome-wide associated SNPs with late-onset Alzheimer's disease
    L C Burns
    Department of Human Genetics, University of Pittsburgh, Pennsylvania, USA
    Am J Med Genet B Neuropsychiatr Genet 156:507-12. 2011
    ..0002). Although we have been unable to replicate the reported GWAS association with AD risk in our sample, we have identified two new associations with AAO and disease duration that need to be confirmed in additional studies...
  18. ncbi Genetic variation in apolipoprotein H (beta2-glycoprotein I) affects the occurrence of antiphospholipid antibodies and apolipoprotein H concentrations in systemic lupus erythematosus
    M I Kamboh
    Department of Human Genetics, University of Pittsburgh, Pennsylvania, USA
    Lupus 8:742-50. 1999
    ....
  19. ncbi Haplotype analysis of two APOA1/MspI polymorphisms in relation to plasma levels of apo A-I and HDL-cholesterol
    M I Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA
    Atherosclerosis 127:255-62. 1996
    ..6 mg/dl and 15.1 mg/dl in non-smoking women, respectively. These data indicate that haplotype analysis in this region may be important to elucidate the functional significance of the APOA1 gene in HDL metabolism...
  20. ncbi Association of a common G6PC2 variant with fasting plasma glucose levels in non-diabetic individuals
    F Y Demirci
    Department of Human Genetics, University of Pittsburgh, PA 15261, USA
    Ann Nutr Metab 56:59-64. 2010
    ..The purpose of this study was to replicate this association in our independent epidemiological samples...
  21. ncbi No association of dynamin binding protein (DNMBP) gene SNPs and Alzheimer's disease
    Ryan L Minster
    Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Neurobiol Aging 29:1602-4. 2008
    ..We observed no association of statistical significance in either the total sample or the APOE*4 non-carriers for any of the SNPs...
  22. ncbi Genetic variation in lectin-like oxidized low-density lipoprotein receptor 1 (LOX1) gene and the risk of coronary artery disease
    Qi Chen
    Department of Human Genetics, University of Pittsburgh, PA 15261, USA
    Circulation 107:3146-51. 2003
    ..We examined the association of 3 polymorphisms in the lectin-like oxidized LDL receptor-1 (LOX1 or OLR1) gene with coronary artery disease in the Women's Ischemia Syndrome Evaluation (WISE) study population...
  23. ncbi Plasma apolipoprotein A-I, apolipoprotein B, and lipoprotein(a) concentrations in normoglycemic Hispanics and non-Hispanic whites from the San Luis Valley, Colorado
    M I Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA
    Am J Epidemiol 146:1011-8. 1997
    ..6 vs. 12.4%). These data suggest that the quantitative risk profile for coronary heart disease with respect to these three quantitative traits is not favorable for Hispanics compared with that for NHWs in the San Luis Valley, Colorado...
  24. ncbi Genetic studies of low-abundance human plasma proteins. VII. Heterogeneity of the C1S subcomponent of the first complement component
    M I Kamboh
    Department of Biostatistics, Graduate School of Public Health, University of Pittsburg, PA 15261
    J Immunogenet 14:231-8. 1987
    ..The frequency of these alleles was 0.979, 0.016 and 0.005, respectively, in a U.S. white population. No variation at the C1S locus was observed in a U.S. black sample (n = 95)...
  25. ncbi DNA sequence variation in human apolipoprotein C4 gene and its effect on plasma lipid profile
    M I Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 DeSoto Street, Pittsburgh, PA 15261, USA
    Atherosclerosis 152:193-201. 2000
    ..The characterization of APOC4 genetic variation may lead to the identification of a specific role of apoC-IV in lipid metabolism or in other physiologic pathways...
  26. ncbi Genetic polymorphism in the cathepsin G gene and the risk of Alzheimer's disease
    T J Bhojak
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Neurosci Lett 309:138-40. 2001
    ..Our data show no effect of this cathepsin G polymorphism in AD. Characterization of additional polymorphisms in this gene may provide more conclusive answers...
  27. ncbi Apolipoprotein H promoter polymorphisms in relation to lupus and lupus-related phenotypes
    Sangita Suresh
    Department of Human Genetics, Graduate School of Public Health, A300 Crabtree Hall, 130 DeSoto Street, Pittsburgh, PA 15261, USA
    J Rheumatol 36:315-22. 2009
    ..We tested the hypothesis that common promoter variation in the APOH gene (encoding for ss(2)-glycoprotein I) is associated with systemic lupus erythematosus (SLE) risk and SLE-related clinical phenotypes in a Caucasian cohort...
  28. ncbi Three SNPs in the GSTO1, GSTO2 and PRSS11 genes on chromosome 10 are not associated with age-at-onset of Alzheimer's disease
    Ayla Ozturk
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA
    Neurobiol Aging 26:1161-5. 2005
    ..However, haplotype analysis revealed a modest association of one haplotype with AD risk (p = 0.04). Additional markers in these genes need to be screened to explore their role in the etiology of AD...
  29. ncbi Relationship of deep white matter hyperintensities and apolipoprotein E genotype to depressive symptoms in older adults without clinical depression
    R D Nebes
    Western Psychiatric Institute and Clinic, Thomas Detre Hall, 3811 O Hara St, Pittsburgh, PA 15213, USA
    Am J Psychiatry 158:878-84. 2001
    ....
  30. ncbi Genetic studies of low-abundance human plasma proteins. VI. Polymorphism of hemopexin
    M I Kamboh
    Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, PA 15261
    Am J Hum Genet 41:645-53. 1987
    ..blacks, with three alleles controlled by a single locus, a situation that demonstrates an autosomal codominant pattern of inheritance. The HPX 1, HPX 2, and HPX 3 allele frequencies in U.S. blacks are .941, .018, and .041, respectively...
  31. ncbi DNA polymorphisms in two paraoxonase genes (PON1 and PON2) are associated with the risk of coronary heart disease
    D K Sanghera
    Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Am J Hum Genet 62:36-44. 1998
    ..Our data indicate that both polymorphisms synergistically contribute to the CHD risk in this sample and that this genetic risk is independent of the conventional plasma lipid profile...
  32. ncbi Apolipoprotein A polymorphisms and plasma lipoprotein(a) concentrations in non-Hispanic Whites and Hispanics
    L Chiu
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA
    Hum Biol 72:821-35. 2000
    ..A pentanucleotide repeat polymorphism in the 5' promoter region of the APOA gene did not show significant impact on plasma Lp(a) levels in either NHWs or Hispanics...
  33. ncbi Relationships between cerebrovascular events, APOE polymorphism and Alzheimer's disease in a community sample
    J M Johnston
    Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA
    Neuroepidemiology 19:320-6. 2000
    ..3, 95% confidence interval = 1.4-20.9). History of stroke/TIA had little effect on the likelihood of having AD in subjects without an APOE*4 allele...
  34. ncbi Role of an intronic polymorphism in the PDCD1 gene with the risk of sporadic systemic lupus erythematosus and the occurrence of antiphospholipid antibodies
    Dharambir K Sanghera
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Hum Genet 115:393-8. 2004
    ..399, 95% CI: 0.19-0.82; P=0.0098) and SLE cases (OR=0.566, 95% CI: 0.32-1.01; P=0.054). Our data indicate polymorphism in intron 4 of the PDCD1 gene affects the occurrence of APA and may slightly modify the risk of sporadic SLE...
  35. ncbi Investigation of the effect of brain-derived neurotrophic factor (BDNF) polymorphisms on the risk of late-onset Alzheimer's disease (AD) and quantitative measures of AD progression
    Purnima Desai
    Department of Human Genetics, University of Pittsburgh, 624 Parran Hall, 130 DeSoto Street, Pittsburgh, PA 15261, USA
    Neurosci Lett 379:229-34. 2005
    ..The significant effect of the C270T polymorphism observed on MMSE scores among American Blacks needs to be further explored in a larger cohort...
  36. ncbi Association between the severity of angiographic coronary artery disease and paraoxonase gene polymorphisms in the National Heart, Lung, and Blood Institute-sponsored Women's Ischemia Syndrome Evaluation (WISE) study
    Qi Chen
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Am J Hum Genet 72:13-22. 2003
    ..26-10.68; P=.017) for PON2 codon 311 Cys/Cys. Our data indicate that the severity of CAD, in terms of the number of diseased vessels, may be affected by common genetic variation in the PON gene cluster, on chromosome 7...
  37. ncbi Apolipoprotein E and alpha-1-antichymotrypsin genotypes do not predict time to psychosis in Alzheimer's disease
    Robert A Sweet
    Department of Psychiatry, School of Medicine, Graduate School of Public Health, University of Pittsburgh, Pennsylvania, USA
    J Geriatr Psychiatry Neurol 15:24-30. 2002
    ..The findings support the hypothesis that these two genetic determinants of AD risk do not contribute to the risk of development of psychotic symptoms in AD...
  38. ncbi Prospective association of lipoprotein(a) concentrations and apo(a) size with coronary heart disease among men in the Multiple Risk Factor Intervention Trial
    R W Evans
    Department of Epidemiology, University of Pittsburgh, Pittsburgh, PA 15261, USA
    J Clin Epidemiol 54:51-7. 2001
    ..When adjusted for age and Lp(a) concentration, logistic regression analysis indicated that small apo(a) isoforms were associated with CHD deaths among smokers (OR 3.31; 95% CI 1.07-10.28)...
  39. ncbi Genetic studies of low-abundance human plasma proteins. XIII. Population genetics of C1R complement subcomponent and description of new variants
    M I Kamboh
    Human Genetics Division, Graduate School of Public Health, University of Pittsburgh, PA 15261
    Am J Hum Genet 44:148-53. 1989
    ..03 to .17, in all of the North American aboriginal populations screened. This allele is not present in U.S. whites but is present at a polymorphic frequency in U.S. and Nigerian blacks.(ABSTRACT TRUNCATED AT 250 WORDS)..
  40. ncbi Genetic effect of two APOA repeat polymorphisms (kringle 4 and pentanucleotide repeats) on plasma Lp(a) levels in American Samoans
    K DePrince
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA
    Hum Biol 73:91-104. 2001
    ..Our data show that common polymorphisms in the APOA gene are major determinants of plasma Lp(a) variation in American Samoans...
  41. ncbi Association studies of 22 candidate SNPs with late-onset Alzheimer's disease
    Jessica A Figgins
    Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA
    Am J Med Genet B Neuropsychiatr Genet 150:520-6. 2009
    ..Our data suggest that the association of the studied variants with LOAD risk, if it exists, is not statistically significant in our sample...
  42. ncbi Genetic variation in the paraoxonase-3 (PON3) gene is associated with serum PON1 activity
    Dharambir K Sanghera
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Ann Hum Genet 72:72-81. 2008
    ..To our knowledge, this is the first study reporting the association of the PON3 gene variants with PON1 activity...
  43. ncbi Functional and genetic characterization of the promoter region of apolipoprotein H (beta2-glycoprotein I)
    Sangita Suresh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
    FEBS J 277:951-63. 2010
    ..In conclusion, we have characterized the functional promoter of APOH and identified functional variants that affect the transcriptional activity of the APOH promoter...
  44. ncbi No association between CALHM1 variation and risk of Alzheimer disease
    Ryan L Minster
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Hum Mutat 30:E566-9. 2009
    ..368 for genotypes; p=0.796 for alleles) was observed in our sample. However, a potential modest association of minor allele homozygosity (TT) with an earlier age-at-onset was seen (p=0.034)...
  45. ncbi Complete DNA sequence variation in the apolipoprotein H (beta-glycoprotein I) gene and identification of informative SNPs
    Qi Chen
    Department of Human Genetics, Graduate School of Public Heath, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Ann Hum Genet 70:1-11. 2006
    ..The discovery of a full range of sequence variation and identification of race-specific informative SNPs in the APOH gene may facilitate the rapid evaluation of this variation in relation to autoimmune diseases...
  46. ncbi Gender-specific association of ATP-binding cassette transporter 1 (ABCA1) polymorphisms with the risk of late-onset Alzheimer's disease
    Purnima Desai Sundar
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Neurobiol Aging 28:856-62. 2007
    ..Our data suggest a gender-specific and APOE and UBQLN1 independent association between the ABCA1/R219K polymorphism and LOAD...
  47. ncbi Genome-wide association study of Alzheimer's disease
    M I Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
    Transl Psychiatry 2:e117. 2012
    ..43. This is a potential candidate gene for AD as this is expressed in the brain and is involved in lipid metabolism. These findings need to be confirmed in additional samples...
  48. ncbi Polygenic determinants of Alzheimer's disease: modulation of the risk by alpha-1-antichymotrypsin
    S T Dekosky
    Department of Psychiatry and Neurology, Western Psychiatric Institute, University of Pittsburgh Medical Center, Pennsylvania 15213, USA
    Ann N Y Acad Sci 802:27-34. 1996
    ..A variety of potential mechanisms for interactions of ACT and APOE are discussed...
  49. ncbi Molecular basis of a unique African variant (A-IV 5) of human apolipoprotein A-IV and its significance in lipid metabolism
    M I Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pennsylvania 15261
    Genet Epidemiol 9:379-88. 1992
    ..Our preliminary data suggest that this unique black allele marker may be of potentially significance in studies of human lipid metabolism and in microevolution...
  50. ncbi Association of the 3' UTR transcription factor LBP-1c/CP2/LSF polymorphism with late-onset Alzheimer's disease
    Erin Luedecking-Zimmer
    Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA
    Am J Med Genet B Neuropsychiatr Genet 117:114-7. 2003
    ..071 vs. 0.051; P = 0.042) with an adjusted odds ratio (OR) of 0.65 (95% confidence interval [CI]: 0.43-0.96; P = 0.0498). Our data suggest that the LBP-1c/CP2/LSF polymorphism may have a moderate protective effect against the risk of AD...
  51. ncbi Association of tagSNPs in the urokinase-plasminogen activator (PLAU) gene with Alzheimer's disease and associated quantitative traits
    Ayla Ozturk
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA
    Am J Med Genet B Neuropsychiatr Genet 144:79-82. 2007
    ..01) and disease duration (P = 0.006). Our data on a large number of AD cases and controls suggest that genetic variation in PLAU may affect the risk and AAO of AD...
  52. ncbi No association of DAPK1 and ABCA2 SNPs on chromosome 9 with Alzheimer's disease
    Ryan L Minster
    Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, United States
    Neurobiol Aging 30:1890-1. 2009
    ..We did not detect associations with AD for any variation...
  53. ncbi Evidence supporting a role for the calcium-sensing receptor in Alzheimer disease
    Yvette P Conley
    Department of Health Promotion and Development, University of Pittsburgh, Pennsylvania, USA
    Am J Med Genet B Neuropsychiatr Genet 150:703-9. 2009
    ..These data support our hypothesis that the CASR has a role in AD susceptibility, particularly in individuals without an APOE4 allele...
  54. ncbi Association study of Toll-like receptor 5 (TLR5) and Toll-like receptor 9 (TLR9) polymorphisms in systemic lupus erythematosus
    F Yesim K Demirci
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA
    J Rheumatol 34:1708-11. 2007
    ..We investigated the association of TLR5 (Arg392Stop, rs5744168) and TLR9 (-1237T-->C, rs5743836) single nucleotide polymorphisms (SNP) with systemic lupus erythematosus (SLE) in Caucasian American subjects...
  55. ncbi A functional polymorphism at the transcriptional initiation site in beta2-glycoprotein I (apolipoprotein H) associated with reduced gene expression and lower plasma levels of beta2-glycoprotein I
    Haider Mehdi
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh 15261, USA
    Eur J Biochem 270:230-8. 2003
    ....
  56. ncbi APOE polymorphism and angiographic coronary artery disease severity in the Women's Ischemia Syndrome Evaluation (WISE) study
    Qi Chen
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 De Soto Street, Pittsburgh, PA 15261, USA
    Atherosclerosis 169:159-67. 2003
    ..These data support the hypothesis that the APOE*4 allele is an independent risk factor not only for the presence of CAD and hyperlipidemia, but also for the angiographic severity of CAD in white women with a family history of disease...
  57. ncbi Genetic variation in alpha(1)-antichymotrypsin and its association with Alzheimer's disease
    Xiaoyan Wang
    Department of Human Genetics, Graduate School of Public Health, 130 DeSoto Street, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Hum Genet 110:356-65. 2002
    ....
  58. ncbi Single nucleotide polymorphisms in the coding region of the apolipoprotein H (beta2-glycoprotein I) gene and their correlation with the protein polymorphism, anti-beta2glycoprotein I antibodies and cardiolipin binding: description of novel haplotypes and
    M Ilyas Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Ann Hum Genet 68:285-99. 2004
    ..We also found that these haplotypes are associated with the occurrence of APA. Recombinant APOH haplotypes, expressed in COS-1 cells, showed that these mutations also affect the binding of APOH to anionic PL...
  59. ncbi Association of a common interferon regulatory factor 5 (IRF5) variant with increased risk of systemic lupus erythematosus (SLE)
    F Y K Demirci
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Ann Hum Genet 71:308-11. 2007
    ..Our results in an independent case-control sample confirm the robust association of the IRF5/rs2004640 T allele with SLE risk, and further support the relevance of the type I interferon system in the pathogenesis of SLE and autoimmunity...
  60. ncbi A highly sensitive and nonradioactive mutation detection method based on vertical gradient temperature single-strand conformation polymorphism
    H Razzaghi
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh PA, 15261 USA
    Electrophoresis 22:2665-9. 2001
    ..In summary, the VGT-SSCP is a simple and robust nonradioactive method that is more sensitive than constant-temperature SSCP in detecting unknown mutations...
  61. ncbi Distribution of plasma alpha 1-antichymotrypsin levels in Alzheimer disease patients and controls and their genetic controls
    Xiaoyan Wang
    Department of Human Genetics, Graduate School of Public Health, 130 DeSoto Street, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Neurobiol Aging 23:377-82. 2002
    ..In conclusion, ACT may play an important role in the AD pathogenesis and genetic variation in the ACT gene appears to have some effect on plasma ACT concentrations...
  62. ncbi Functional significance of lipoprotein lipase HindIII polymorphism associated with the risk of coronary artery disease
    Qi Chen
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Atherosclerosis 200:102-8. 2008
    ..0001) cells. In conclusion, this study demonstrates for the first time that the polymorphic HindIII site in the LPL gene is functional because it affects the binding of a transcription factor and it also has an impact on LPL expression...
  63. ncbi Investigation of oxidized LDL-receptor 1 (OLR1) as the candidate gene for Alzheimer's disease on chromosome 12
    Erin Luedecking-Zimmer
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 DeSoto Street, Pittsburgh, PA 15261, USA
    Hum Genet 111:443-51. 2002
    ..Our data suggest that genetic variation in the OLR1 gene may modify the risk of AD in an APOE*4-dependent fashion...
  64. ncbi Genetic variation in apolipoprotein D affects the risk of Alzheimer disease in African-Americans
    Purnima P Desai
    Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA
    Am J Med Genet B Neuropsychiatr Genet 116:98-101. 2003
    ..14; P = 0.13). Our data suggest that the risk of AD among African-Americans may be modified by genetic variation in APOD. Larger population-based or case-control studies are needed to confirm the role of APOD genetic variation in AD...
  65. ncbi Plasma and cerebrospinal fluid alpha1-antichymotrypsin levels in Alzheimer's disease: correlation with cognitive impairment
    Steven T DeKosky
    Department of Neurology and the Alzheimer s Disease Research Center, University of Pittsburgh, PA, USA
    Ann Neurol 53:81-90. 2003
    ....
  66. ncbi Genetic variation in C-reactive protein (CRP) gene may be associated with risk of systemic lupus erythematosus and CRP concentrations
    P Betty Shih
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA
    J Rheumatol 35:2171-8. 2008
    ..Our study was done to confirm the reported association in an independent population-based case-control cohort, and also to investigate the influence of 3 additional CRP tagSNP (-861, -390, +90) on SLE risk and serum CRP concentrations...
  67. ncbi Apolipoprotein E4 allele presence and functional outcome after severe traumatic brain injury
    Sheila Alexander
    University of Pittsburgh School of Nursing, Pittsburgh, Pennsylvania, USA
    J Neurotrauma 24:790-7. 2007
    ..The findings of this study are unique in that they address not only the relationship between APOE 4 allele presence and outcome from severe TBI, but also describe differences in trajectory of recovery by APOE 4 allele presence...
  68. ncbi Identification of structural mutations in the fifth domain of apolipoprotein H (beta 2-glycoprotein I) which affect phospholipid binding
    D K Sanghera
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA
    Hum Mol Genet 6:311-6. 1997
    ..An estimated 2 million Caucasians in the United States, who are compound heterozygotes for the two mutations, may be precluded from producing apoH-dependent antiphospholipid autoantibodies...
  69. ncbi Genetic variation in the apolipoprotein D gene among African blacks and its significance in lipid metabolism
    Purnima P Desai
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 DeSoto Street, PA 15261, USA
    Atherosclerosis 163:329-38. 2002
    ..Further study of these polymorphisms may help to characterize the role of apoD in lipid metabolism, and in cardiovascular disease among African populations...
  70. ncbi Identification and characterization of a novel 5 bp deletion in a putative insulin response element in the lipoprotein lipase gene
    Li xia Yang
    Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Biochim Biophys Acta 1791:1057-65. 2009
    ..There was also a slight reduction in LPL translation in the deletion mutant. Our data suggest the presence of an IRE in the 3'UTR of the LPL gene...
  71. ncbi Lack of association of 5 SNPs in the vicinity of the insulin-degrading enzyme (IDE) gene with late-onset Alzheimer's disease
    Ayla Ozturk
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Neurosci Lett 406:265-9. 2006
    ..None of the SNPs examined in this fairly large case-control sample revealed significant association with AD risk. These SNPs also showed no significant association with AD quantitative traits...
  72. ncbi Structure-function analysis of D9N and N291S mutations in human lipoprotein lipase using molecular modelling
    H Razzaghi
    Department of Human Genetics, University of Pittsburgh, 130 DeSoto Street, Pittsburgh, PA 15261, USA
    J Mol Graph Model 19:487-94, 587-90. 2001
    ..Our data indicate that molecular modelling of LPL mutations could provide a valuable tool to understand the effects of a mutation on the structure-function of this important enzyme...
  73. ncbi Molecular basis of the apolipoprotein H (beta 2-glycoprotein I) protein polymorphism
    D K Sanghera
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA
    Hum Genet 100:57-62. 1997
    ..027) and non-Hispanic whites (0.059). The identification of the molecular basis of the APOH protein polymorphism will help to elucidate the structural-functional relationship of apoH in the production of antiphospholipid autoantibodies...
  74. ncbi Recombinant hepatitis B surface antigen and anionic phospholipids share a binding region in the fifth domain of beta2-glycoprotein I (apolipoprotein H)
    Haider Mehdi
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Biochim Biophys Acta 1782:163-8. 2008
    ..Our data provide evidence that the lipid (PL) rather than the protein moiety of rHBsAg binds to beta 2GPI and that this binding region is located in the fifth domain of beta 2GPI, which also binds to anionic PL...
  75. ncbi Apolipoprotein D is a component of compact but not diffuse amyloid-beta plaques in Alzheimer's disease temporal cortex
    Purnima P Desai
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Neurobiol Dis 20:574-82. 2005
    ..Elevated apoD in AD brain may influence Abeta aggregation, or facilitate phagocytosis and transport of Abeta fibrils from plaques to cerebral vasculature...
  76. ncbi Functional analysis of plasma alpha(2)-macroglobulin from Alzheimer's disease patients with the A2M intronic deletion
    Caroline Hope
    Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15213, USA
    Neurobiol Dis 14:504-12. 2003
    ..These observations suggest a possible functional basis by which the A2M deletion may influence multifactorial AD pathogenesis...
  77. ncbi Relationship of serum paraoxonase 1 activity and paraoxonase 1 genotype to risk of systemic lupus erythematosus
    Laura M Tripi
    University of Pittsburgh, Pittsburgh, Pennsylvania, USA
    Arthritis Rheum 54:1928-39. 2006
    ..This study was undertaken to examine the relationship of PON1 activity and genotype to risk of systemic lupus erythematosus (SLE)...
  78. ncbi Lack of association of two chromosome 10q24 SNPs with Alzheimer's disease
    Ryan L Minster
    Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Neurosci Lett 408:170-2. 2006
    ..We examined the association of these two SNPs with LOAD risk in a large Caucasian American cohort comprising about 2000 cases and controls. Neither SNP revealed significant association with LOAD risk or age-at-onset...
  79. ncbi Genetic studies of low-abundance human plasma proteins. XI. Linkage analysis and population genetics of the C1S subcomponent of the first complement component
    L A Lyons
    Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, PA
    Complement Inflamm 6:81-7. 1989
    ..In addition, the product of a putative new allele, designated C1S*4, was observed in a single US White individual but segregation of this variant was not observed in the limited family data available...
  80. ncbi Chronic traumatic encephalopathy in a National Football League player
    Bennet I Omalu
    Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania 15221, USA
    Neurosurgery 57:128-34; discussion 128-34. 2005
    ..This case draws attention to the need for further studies in the cohort of retired National Football League players to elucidate the neuropathological sequelae of repeated mild traumatic brain injury in professional football...
  81. ncbi Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus
    Kimberly E Taylor
    Rosalind Russell Medical Research Center for Arthritis, University of California San Francisco, California, USA
    PLoS Genet 4:e1000084. 2008
    ..We conclude that this common polymorphism of STAT4 contributes to the phenotypic heterogeneity of SLE, predisposing specifically to more severe disease...
  82. ncbi Population genetics of apolipoproteins A-IV, E, and H, and the angiotensin converting enzyme (ACE): associations with lipids, and apolipoprotein levels in American Samoans
    Douglas E Crews
    Department of Anthropology, Ohio State University, Columbus, Ohio 43210 1316, USA
    Am J Phys Anthropol 124:364-72. 2004
    ..The interaction term between ACE and APO E was also significantly associated with total-c and APO E levels, and the ACE genotype showed a significant main effect on APO AI levels in multivariate analyses...
  83. ncbi Apolipoprotein E genotype and CBF in traumatic brain injured patients
    Mary E Kerr
    University of Pittsburgh School of Nursing, PA, USA
    Adv Exp Med Biol 578:291-6. 2006
  84. ncbi The APO E4 allele and cognition in New Mexico Hispanic elderly
    Linda J Romero
    Department of Family and Community Medicine, University of New Mexico Health Sciences Center, Albuquerque 87131, USA
    Ethn Dis 12:235-41. 2002
    ..To determine if the apolipoprotein E E4 (APO E4) allele is associated with cognitive performance in New Mexico Hispanic elderly...
  85. ncbi Effects of the hepatic lipase gene and physical activity on coronary heart disease risk
    John E Hokanson
    Department of Preventive Medicine and Biometrics, University of Colorado Health Sciences Center, Denver, CO 80262, USA
    Am J Epidemiol 158:836-43. 2003
    ..Thus, in this prospective cohort study, the LIPC-480 TT genotype increased susceptibility to CHD only in those subjects with normal levels of physical activity, not in those with the high-risk genotype who were vigorously active...
  86. ncbi Evidence for the association of the S100beta gene with low cognitive performance and dementia in the elderly
    J C Lambert
    INSERM U744, Institut Pasteur de Lille, Universite de Lille 2, Lille, France
    Mol Psychiatry 12:870-80. 2007
    ..Therefore, this genetic variant in S100beta increases the risk of low cognitive performance and dementia, possibly by favouring a splicing event increasing S100beta2 isoform expression in the brain...
  87. ncbi Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX
    Geoffrey Hom
    Genentech, South San Francisco, CA 94080, USA
    N Engl J Med 358:900-9. 2008
    ..Alleles of HLA-DRB1, IRF5, and STAT4 are established susceptibility genes; there is strong evidence for the existence of additional risk loci...
  88. ncbi The impact of factor XIIIa V34L polymorphism on plasma factor XIII activity in the Chinese and Asian Indians from Singapore
    Chew Kiat Heng
    Departments of Paediatrics, National University of Singapore, 5 Lower Kent Ridge Road, 119074 Singapore
    Hum Genet 114:186-91. 2004
    ..The effect of V34L polymorphism on FXIII activity in the Indian females is independent of the effects of the P564L and E651Q polymorphic sites in the FXIIIa gene...