M Ilyas Kamboh

Summary

Affiliation: University of Pittsburgh
Country: USA

Publications

  1. ncbi request reprint 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
  2. ncbi request reprint 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
  3. pmc 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
  4. ncbi request reprint 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
  5. pmc Association of anti-oxidized LDL and candidate genes with severity of coronary stenosis in the Women's Ischemia Syndrome Evaluation study
    Qi Chen
    Department of Human Genetics, and Cardiovascular Institute, University of Pittsburgh, Pittsburgh, PA, USA
    J Lipid Res 52:801-7. 2011
  6. pmc 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
  7. ncbi request reprint 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
  8. pmc 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
  9. pmc 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
  10. pmc 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

Detail Information

Publications83

  1. ncbi request reprint 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...
  2. ncbi request reprint 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...
  3. pmc 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...
  4. ncbi request reprint 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...
  5. pmc Association of anti-oxidized LDL and candidate genes with severity of coronary stenosis in the Women's Ischemia Syndrome Evaluation study
    Qi Chen
    Department of Human Genetics, and Cardiovascular Institute, University of Pittsburgh, Pittsburgh, PA, USA
    J Lipid Res 52:801-7. 2011
    ..020). Our data suggest that higher IgM anti-oxLDL levels may provide protection against coronary stenosis and that genetic variation in some candidate genes are determinants of anti-oxLDL levels...
  6. pmc 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...
  7. ncbi request reprint 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...
  8. pmc 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...
  9. pmc 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...
  10. pmc 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...
  11. pmc 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. pmc Association analysis of PON2 genetic variants with serum paraoxonase activity and systemic lupus erythematosus
    Sudeshna Dasgupta
    Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA
    BMC Med Genet 12:7. 2011
    ....
  13. pmc 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...
  14. ncbi request reprint 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...
  15. pmc 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...
  16. pmc 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...
  17. ncbi request reprint 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...
  18. pmc Lipoprotein lipase gene sequencing and plasma lipid profile
    Dilek Pirim
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA and
    J Lipid Res 55:85-93. 2014
    ..Comprehensive resequencing of LPL in larger samples is warranted to further test the role of rare variants in affecting plasma lipid levels...
  19. pmc Functional polymorphisms of the coagulation factor II gene (F2) and susceptibility to systemic lupus erythematosus
    F Yesim K Demirci
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    J Rheumatol 38:652-7. 2011
    ....
  20. pmc 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...
  21. pmc 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)...
  22. ncbi request reprint 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)...
  23. ncbi request reprint 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...
  24. ncbi request reprint 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...
  25. ncbi request reprint 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...
  26. pmc More evidence for association of a rare TREM2 mutation (R47H) with Alzheimer's disease risk
    Samantha L Rosenthal
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
    Neurobiol Aging 36:2443.e21-6. 2015
    ..Our results corroborate those of other studies implicating TREM2 as an LOAD risk locus and indicate the need to determine its biological role in the context of neurodegeneration. ..
  27. pmc Resequencing of the CETP gene in American whites and African blacks: Association of rare and common variants with HDL-cholesterol levels
    Dilek Pirim
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
    Metabolism 65:36-47. 2016
    ..Hence, resequencing of the gene in extreme phenotypes and follow-up rare-variant association analyses are essential to fill this gap...
  28. pmc Comprehensive evaluation of the association of APOE genetic variation with plasma lipoprotein traits in U.S. whites and African blacks
    Zaheda H Radwan
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America
    PLoS ONE 9:e114618. 2014
    ..Our comprehensive sequencing and genotype-phenotype analyses indicate that APOE genetic variation impacts HDL-cholesterol and triglycerides in addition to affecting LDL-cholesterol. ..
  29. pmc Impact of genetic variants in human scavenger receptor class B type I (SCARB1) on plasma lipid traits
    Vipavee Niemsiri
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
    Circ Cardiovasc Genet 7:838-47. 2014
    ..Scavenger receptor class B type 1 (SCARB1) plays an important role in high-density lipoprotein cholesterol (HDL-C) metabolism in selective cholesteryl ester uptake and in free cholesterol cellular efflux...
  30. pmc Association of CLU and PICALM variants with Alzheimer's disease
    M Ilyas Kamboh
    Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, United States
    Neurobiol Aging 33:518-21. 2012
    ..Our data from an independent and large case-control sample suggest that these gene regions should be followed up by comprehensive resequencing to find functional variants...
  31. ncbi request reprint 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...
  32. ncbi request reprint 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...
  33. ncbi request reprint 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...
  34. pmc 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...
  35. pmc 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...
  36. ncbi request reprint 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...
  37. pmc Resequencing of LPL in African Blacks and associations with lipoprotein-lipid levels
    Dilek Pirim
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
    Eur J Hum Genet 23:1244-53. 2015
    ..01 exhibited nominal association with TG (P=0.039) and LDL-C (P=0.027). Our study indicates that both common and uncommon/rare LPL variants/haplotypes may affect plasma lipoprotein-lipid levels in general African population. ..
  38. pmc Genetic contribution of SCARB1 variants to lipid traits in African Blacks: a candidate gene association study
    Vipavee Niemsiri
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 DeSoto Street, Pittsburgh, PA, 15261, USA
    BMC Med Genet 16:106. 2015
    ..Scavenger receptor class B member 1 (SCARB1) plays a key role in RCT by selective uptake of HDL cholesteryl esters. We aimed to explore the genetic contribution of SCARB1 to affecting lipid levels in African Blacks from Nigeria...
  39. pmc Genetic Determinants of Survival in Patientswith Alzheimer’s Disease
    Xingbin Wang
    Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA
    J Alzheimers Dis 45:651-8. 2015
    ..Our findings highlight the importance of focusing on AD-related phenotypes that may help to identify additional genes relevant toAD...
  40. ncbi request reprint 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...
  41. pmc 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...
  42. ncbi request reprint 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
    ....
  43. ncbi request reprint 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...
  44. ncbi request reprint Chronic traumatic encephalopathy in a national football league player: part II
    Bennet I Omalu
    Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
    Neurosurgery 59:1086-92; discussion 1092-3. 2006
    ..These differing pathological features underscore the need for further empirical elucidation of the pathoetiology and pathological cascades of long-term neurodegenerative sequelae of professional football...
  45. pmc Beta-amyloid toxicity modifier genes and the risk of Alzheimer's disease
    Samantha L Rosenthal
    Department of Human Genetics, University Pittsburgh, Pittsburgh, PA
    Am J Neurodegener Dis 1:191-8. 2012
    ....
  46. pmc Genetic determinants of disease progression in Alzheimer's disease
    Xingbin Wang
    Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA Department of Biostatistics, University of Pittsburgh, Pittsburgh, PA, USA
    J Alzheimers Dis 43:649-55. 2015
    ..Better understanding of these genetic factors could help to improve clinical trial design and potentially affect the development of disease modifying therapies. ..
  47. pmc A multiethnic replication study of plasma lipoprotein levels-associated SNPs identified in recent GWAS
    Emily K Bryant
    Human Genetics, GSPH, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
    PLoS ONE 8:e63469. 2013
    ..However, the associations were not consistently present in all ethnic groups. This observation was consistent with mixed results obtained in other studies that also examined various ethnic groups...
  48. ncbi request reprint 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...
  49. ncbi request reprint 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...
  50. ncbi request reprint 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...
  51. ncbi request reprint 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...
  52. ncbi request reprint 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
    ....
  53. ncbi request reprint 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...
  54. pmc Investigation of an amyloid precursor protein protective mutation (A673T) in a North American case-control sample of late-onset Alzheimer's disease
    Mikhil N Bamne
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
    Neurobiol Aging 35:1779.e15-6. 2014
    ..We did not observe any example of the A673T variant in our large sample. Our findings suggest that this rare variant could be specific to the individuals of the origin from the Nordic countries. ..
  55. pmc Connecting the dots: potential of data integration to identify regulatory SNPs in late-onset Alzheimer's disease GWAS findings
    Samantha L Rosenthal
    Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America
    PLoS ONE 9:e95152. 2014
    ..This study further supports the assumption that some of the non-coding GWAS SNPs are true associations rather than tagged associations and demonstrates the application of RegulomeDB to GWAS data. ..
  56. pmc A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease
    Xiaojing Zheng
    Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America Department of Pediatrics, School of Medicine, University of North Carolina, Chapel Hill, North Carolina, United States of America
    PLoS ONE 9:e111462. 2014
    ..To the best of our knowledge, our case report is the first suggestion that 16p11.2 duplication is also linked to AD+P. Although rare, this CNV may have an important role in the development of psychosis. ..
  57. pmc TOMM40 poly-T repeat lengths, age of onset and psychosis risk in Alzheimer disease
    Su Hee Chu
    Department of Statistics, Carnegie Mellon University, Pittsburgh, PA, USA
    Neurobiol Aging 32:2328.e1-9. 2011
    ..Our findings do not support the association of poly-T repeat length with age of onset in LOAD. The clinical implications of this repeat length polymorphism remain to be elucidated...
  58. ncbi request reprint 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...
  59. pmc 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...
  60. pmc 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...
  61. pmc Incidental Cerebral Microbleeds and Cerebral Blood Flow in Elderly Individuals
    Nicholas M Gregg
    Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania
    JAMA Neurol 72:1021-8. 2015
    ....
  62. pmc Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry
    F Yesim Demirci
    University of Pittsburgh, Pittsburgh, Pennsylvania
    Arthritis Rheumatol 68:174-83. 2016
    ..Followup studies on suggestive GWAS regions using larger samples and more markers identified additional SLE loci in subjects of European descent. This multistage study was undertaken to identify novel SLE loci...
  63. pmc Genome-wide association study of antiphospholipid antibodies
    M Ilyas Kamboh
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Autoimmune Dis 2013:761046. 2013
    ..Conclusions. We have identified a number of suggestive novel loci for APA that will stimulate follow-up studies in independent and larger samples to replicate our findings...
  64. ncbi request reprint 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...
  65. pmc The catechol-o-methyltransferase Val158 Met polymorphism modulates organization of regional cerebral blood flow response to working memory in adults
    Alicia F Heim
    TDH E 1329 Psychophysiology Lab, University of Pittsburgh, Pittsburgh, PA, United States Electronic address
    Int J Psychophysiol 90:149-56. 2013
    ..32, p = 0.04). Different genotypes showed different regional specificity and concomitant activation patterns suggesting that varying dopamine availability induces different brain processing pathways to achieve similar WM performance...
  66. pmc Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis
    David C Whitcomb
    Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
    Nat Genet 44:1349-54. 2012
    ..These results could partially explain the high frequency of alcohol-related pancreatitis in men (male hemizygote frequency is 0.26, whereas female homozygote frequency is 0.07)...
  67. doi request reprint Replication of European rheumatoid arthritis loci in a Pakistani population
    Syed Fazal Jalil
    Atta ur Rahman School of Applied Biosciences ASAB, National University of Science and Technology NUST, Islamabad, Pakistan
    J Rheumatol 40:401-7. 2013
    ..We sought to replicate the association of 33 single-nucleotide polymorphisms (SNP) from 31 RA susceptibility loci confirmed among Europeans in a unique Pakistani population...
  68. ncbi request reprint 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...
  69. ncbi request reprint 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. pmc In vivo assessment of amyloid-β deposition in nondemented very elderly subjects
    Chester A Mathis
    Department of Radiology, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA
    Ann Neurol 73:751-61. 2013
    ....
  71. ncbi request reprint The Khatri Sikh Diabetes Study (SDS): study design, methodology, sample collection, and initial results
    Dharambir K Sanghera
    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA
    Hum Biol 78:43-63. 2006
    ..Such well-characterized population isolates may offer unique advantages in mapping genes for common complex diseases...
  72. pmc Ginkgo biloba for preventing cognitive decline in older adults: a randomized trial
    Beth E Snitz
    Department of Neurology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
    JAMA 302:2663-70. 2009
    ..The herbal product Ginkgo biloba is taken frequently with the intention of improving cognitive health in aging. However, evidence from adequately powered clinical trials is lacking regarding its effect on long-term cognitive functioning...
  73. pmc The application of network label propagation to rank biomarkers in genome-wide Alzheimer's data
    Matthew E Stokes
    Department of Biomedical Informatics, University of Pittsburgh, 5607 Baum Boulevard, 15206 Pittsburgh, PA, USA
    BMC Genomics 15:282. 2014
    ..This paper evaluates the performance of a multivariate graph-based method called label propagation (LP) that efficiently ranks SNPs in genome-wide data...
  74. ncbi request reprint 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
    ....
  75. pmc Maintenance treatment of depression in old age: a randomized, double-blind, placebo-controlled evaluation of the efficacy and safety of donepezil combined with antidepressant pharmacotherapy
    Charles F Reynolds
    Department of Psychiatry, University of Pittsburgh, PA 15213, USA
    Arch Gen Psychiatry 68:51-60. 2011
    ..Cognitive impairment in late-life depression is a core feature of the illness...
  76. ncbi request reprint 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...
  77. ncbi request reprint 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...
  78. ncbi request reprint 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...
  79. doi request reprint 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...
  80. ncbi request reprint 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...
  81. ncbi request reprint 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...
  82. ncbi request reprint 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
  83. pmc 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...