L A Farrer

Summary

Affiliation: Boston University
Country: USA

Publications

  1. ncbi Association between apolipoprotein E genotype and Alzheimer disease in African American subjects
    Neill R Graff-Radford
    Genetics Program L 320, Boston University School of Medicine, 715 Albany St, Boston, MA 02118, USA
    Arch Neurol 59:594-600. 2002
  2. ncbi Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium
    L A Farrer
    Department of Neurology, Boston University School of Medicine, Mass 02118, USA
    JAMA 278:1349-56. 1997
  3. ncbi Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea
    Q Ma
    Department of Medicine, Boston University School of Medicine, Boston, MA, USA
    Pharmacogenomics J 7:386-94. 2007
  4. ncbi APOE, vascular pathology, and the AD brain
    A G Yip
    Department of Medicine, Boston University School of Medicine, Bedford, MA, USA
    Neurology 65:259-65. 2005
  5. pmc Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q
    A L DeStefano
    Department of Neurology, Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA
    Am J Hum Genet 63:1425-30. 1998
  6. ncbi Beta-globin gene cluster polymorphisms are strongly associated with severity of HbE/beta(0)-thalassemia
    Q Ma
    Department of Medicine Genetics Program, Boston University School of Medicine, Boston, MA 02118, USA
    Clin Genet 72:497-505. 2007
  7. pmc Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q
    C T Baldwin
    Center for Human Genetics, Boston University School of Medicine, MA 02118
    Am J Hum Genet 56:692-7. 1995
  8. ncbi Maternal component in the familial aggregation of hypertension
    A L DeStefano
    Department of Neurology, Boston University School of Medicine, Boston, MA 02118, USA
    Clin Genet 60:13-21. 2001
  9. ncbi Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease
    M Nicolaou
    Department of Medicine, Boston University School of Medicine, MA 02118, USA
    Neurogenetics 3:203-6. 2001
  10. ncbi Reliability of information collected by proxy in family studies of Alzheimer's disease
    S Demissie
    Data Coordinating Center, Boston University Schools of Medicine and Public Health, Boston, Mass, USA
    Neuroepidemiology 20:105-11. 2001

Detail Information

Publications50

  1. ncbi Association between apolipoprotein E genotype and Alzheimer disease in African American subjects
    Neill R Graff-Radford
    Genetics Program L 320, Boston University School of Medicine, 715 Albany St, Boston, MA 02118, USA
    Arch Neurol 59:594-600. 2002
    ..The association between Alzheimer disease (AD) and genotypes at the apolipoprotein E (APOE) locus has been confirmed in numerous populations worldwide, but appears to be inconsistent in African American subjects...
  2. ncbi Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium
    L A Farrer
    Department of Neurology, Boston University School of Medicine, Mass 02118, USA
    JAMA 278:1349-56. 1997
    ..To examine more closely the association between apolipoprotein E (APOE) genotype and Alzheimer disease (AD) by age and sex in populations of various ethnic and racial denominations...
  3. ncbi Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea
    Q Ma
    Department of Medicine, Boston University School of Medicine, Boston, MA, USA
    Pharmacogenomics J 7:386-94. 2007
    ..Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU...
  4. ncbi APOE, vascular pathology, and the AD brain
    A G Yip
    Department of Medicine, Boston University School of Medicine, Bedford, MA, USA
    Neurology 65:259-65. 2005
    ..To use neuropathologic data to examine the association between APOE genotype and cerebrovascular lesions commonly found in Alzheimer disease (AD), as well as neuritic senile plaque (SP) and neurofibrillary tangle (NFT) burden...
  5. pmc Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q
    A L DeStefano
    Department of Neurology, Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA
    Am J Hum Genet 63:1425-30. 1998
    ..Identification of the gene responsible for orthostatic hypotensive disorder in these families may advance understanding of the general regulatory pathways involved in the continuum, from hypotension to hypertension, of blood pressure...
  6. ncbi Beta-globin gene cluster polymorphisms are strongly associated with severity of HbE/beta(0)-thalassemia
    Q Ma
    Department of Medicine Genetics Program, Boston University School of Medicine, Boston, MA 02118, USA
    Clin Genet 72:497-505. 2007
    ..Further studies are needed to validate this hypothesis and determine whether XmnI or another closely linked variant modulates severity and HbF levels in patients with beta(0)-thalassemia/HbE disease...
  7. pmc Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q
    C T Baldwin
    Center for Human Genetics, Boston University School of Medicine, MA 02118
    Am J Hum Genet 56:692-7. 1995
    ..We found genetic linkage between the disease in this family and chromosome 8q, with a multipoint lod score of 4.06. These results suggest that a defective gene at this location causes the disease in this family...
  8. ncbi Maternal component in the familial aggregation of hypertension
    A L DeStefano
    Department of Neurology, Boston University School of Medicine, Boston, MA 02118, USA
    Clin Genet 60:13-21. 2001
    ..Furthermore, when assessing a patient's risk for hypertension, particular attention should be paid to the maternal family history...
  9. ncbi Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease
    M Nicolaou
    Department of Medicine, Boston University School of Medicine, MA 02118, USA
    Neurogenetics 3:203-6. 2001
    ..These data suggest that while BACE protein plays an important role in the pathogenesis of AD, and may be a robust therapeutic target, it is unlikely to be a major AD susceptibility locus...
  10. ncbi Reliability of information collected by proxy in family studies of Alzheimer's disease
    S Demissie
    Data Coordinating Center, Boston University Schools of Medicine and Public Health, Boston, Mass, USA
    Neuroepidemiology 20:105-11. 2001
    ..This study supports the reliability of proxy responses for most categories of questions that are elicited in typical epidemiological studies, including the MIRAGE study...
  11. ncbi Polymorphisms near a chromosome 6q QTL area are associated with modulation of fetal hemoglobin levels in sickle cell anemia
    D F Wyszynski
    Department of Medicine, Genetics Program, Center of Excellence in Sickle Cell Disease, E211, Boston Medical Center, 88 E Newton Street, Boston, MA 02118, USA
    Cell Mol Biol (Noisy-le-grand) 50:23-33. 2004
    ..Genetic elements abutting the 6q22.3-q23.2 QTL, may harbor trans-acting elements that help modulate baseline HbF level in sickle cell anemia...
  12. ncbi Polymorphisms in the promoter region of catalase gene and essential hypertension
    Xiao Feng Zhou
    Center for Human Genetics, Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA
    Dis Markers 21:3-7. 2005
    ..In addition, the genetic factors that contribute to hypertension maybe different between ethnic groups...
  13. ncbi Complement factor H polymorphism and age-related macular degeneration
    Albert O Edwards
    Department of Ophthalmology and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center UTSWMC, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    Science 308:421-4. 2005
    ..Possession of at least one histidine at amino acid position 402 increased the risk of AMD 2.7-fold and may account for 50% of the attributable risk of AMD...
  14. ncbi Multiple QTLs influencing triglyceride and HDL and total cholesterol levels identified in families with atherogenic dyslipidemia
    Yi Yu
    Department of Medicine Genetics Program, Boston University School of Medicine, Boston, MA, USA
    J Lipid Res 46:2202-13. 2005
    ..These data also indicate that a large proportion of the variance of TG levels in the Turkish population is explained by the interaction of multiple genetic loci...
  15. ncbi Polymorphisms in the PON gene cluster are associated with Alzheimer disease
    Porat M Erlich
    Department of Medicine Genetics Program, Boston University School of Medicine, Boston, MA 02118, USA
    Hum Mol Genet 15:77-85. 2006
    ..The most significantly associated haplotype comprised SNPs in the region spanning the -161[C/T] SNP (P=0.00009). Our results demonstrate association between AD and variants in the PON gene cluster in Caucasians and African Americans...
  16. pmc Association of polymorphisms in the Angiotensin-converting enzyme gene with Alzheimer disease in an Israeli Arab community
    Yan Meng
    Department of Medicine Genetics Program, Boston University School of Medicine, Boston, MA 02118, USA
    Am J Hum Genet 78:871-7. 2006
    ..1 x 10(-12)), but the only consistently associated alleles were in rs4343 and rs4351. These results suggest that a variant in close proximity to rs4343 and rs4351 modulates susceptibility to AD in this community...
  17. ncbi Intronic variants in the dopa decarboxylase (DDC) gene are associated with smoking behavior in European-Americans and African-Americans
    Yi Yu
    Department of Medicine, Genetics Program, Boston University School of Medicine, MA, USA
    Hum Mol Genet 15:2192-9. 2006
    ..These findings confirm a previous report of association of DDC with ND, localize the causative variants to the 3' end of the coding region and extend the association to multiple population groups...
  18. pmc Association studies between the plasmin genes and late-onset Alzheimer's disease
    Nobuto Shibata
    Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto and Toronto Western Hospital Research Institute, Toronto, Ontario, Canada
    Neurobiol Aging 28:1041-3. 2007
    ..Thus, the current survey does not support the notion that common polymorphisms in the plasmin genes influence the development of AD...
  19. pmc Education effects on cognitive function in a healthy aged Arab population
    Rivka Inzelberg
    Department of Neurology, Hillel Yaffe Medical Center, Hadera, Israel
    Int Psychogeriatr 19:593-603. 2007
    ..We investigated the influence of gender, education and occupation in a cognitively normal community sample which was assessed using an Arabic translation of the MMSE and the BCST...
  20. ncbi Diabetes mellitus and risk of developing Alzheimer disease: results from the Framingham Study
    Abimbola Akomolafe
    Department of Medicine, Morehouse School of Medicine, Atlanta, GA, USA
    Arch Neurol 63:1551-5. 2006
    ..Diabetes mellitus (DM) could increase the risk of Alzheimer disease (AD) through several biologically plausible pathways, but the relationship between DM and the development of AD remains uncertain...
  21. pmc Substance dependence low-density whole genome association study in two distinct American populations
    Yi Yu
    Department of Medicine Genetics Program, Boston University Schools of Medicine and Public Health, Boston, MA, USA
    Hum Genet 123:495-506. 2008
    ..Our study provides an initial substance dependence trait-specific blueprint of associated regions for future candidate gene studies...
  22. ncbi Heritability of magnetic resonance imaging (MRI) traits in Alzheimer disease cases and their siblings in the MIRAGE study
    Kathryn L Lunetta
    Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA
    Alzheimer Dis Assoc Disord 21:85-91. 2007
    ..In the Multi-Institutional Research in Alzheimer's Genetic Epidemiology Study of AD-discordant siblings, MRI traits are heritable and are potential endophenotypes for genetic association studies...
  23. pmc Nonsteroidal anti-inflammatory drug use and Alzheimer's disease risk: the MIRAGE Study
    Agustin G Yip
    Department of Medicine Genetics Program, Boston University School of Medicine, 715 Albany Street, Boston MA 02118 2526, USA
    BMC Geriatr 5:2. 2005
    ..We sought examine the association between NSAID use and risk of AD, and potential effect modification by APOE-epsilon4 carrier status and ethnicity...
  24. ncbi Differences between African Americans and Whites in their attitudes toward genetic testing for Alzheimer's disease
    Yvonne G Hipps
    Department of Pharmacology, Morehouse School of Medicine, Altanta, Georgia, USA
    Genet Test 7:39-44. 2003
    ..Future research in real-life testing situations with more representative samples will be necessary to confirm these racial and cultural differences in perceptions of genetic testing...
  25. ncbi Reasons for seeking genetic susceptibility testing among first-degree relatives of people with Alzheimer disease
    J Scott Roberts
    Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, USA
    Alzheimer Dis Assoc Disord 17:86-93. 2003
    ..3, p < 0.01). Findings suggest that genetic susceptibility testing is of interest to individuals at risk for AD for a variety of reasons, even in the relative absence of available treatments...
  26. ncbi Genetic and environmental epidemiology of Alzheimer's disease in arabs residing in Israel
    Lindsay A Farrer
    Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA
    J Mol Neurosci 20:207-12. 2003
    ....
  27. ncbi Genetic variants of WNK4 in whites and African Americans with hypertension
    Porat M Erlich
    Department of Medicine, Boston University School of Medicine, Boston, Mass, USA
    Hypertension 41:1191-5. 2003
    ..However, because the associated SNP does not appear to be a functional variant and the limitations of case/control association studies, confirmation of these results in additional cohorts is warranted...
  28. ncbi The genetics of adult-onset neuropsychiatric disease: complexities and conundra?
    James L Kennedy
    Departments of Psychiatry and Medicine, Centre for Addiction and Mental Health, Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario M5S 3H9, Canada
    Science 302:822-6. 2003
    ..Several strategies have recently been applied to address this complexity, leading to the identification of a number of candidate susceptibility loci/genes...
  29. pmc Empirically derived phenotypic subgroups - qualitative and quantitative trait analyses
    Marsha A Wilcox
    Genetics Program, Department of Medicine, Boston University School of Medicine, 715 Albany Street, Boston, Massachusetts 02118, USA
    BMC Genet 4:S15. 2003
    ....
  30. pmc Search for genetic factors predisposing to atherogenic dyslipidemia
    Agustin G Yip
    Genetics Program, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA
    BMC Genet 4:S100. 2003
    ..Here we report the results of a whole-genome screen for AD using the Framingham Heart Study population...
  31. ncbi Identification of multiple loci for Alzheimer disease in a consanguineous Israeli-Arab community
    Lindsay A Farrer
    Department of Medicine, Genetics Program, Boston University School of Medicine, Boston, MA 02118, USA
    Hum Mol Genet 12:415-22. 2003
    ..The unique characteristics of this community together with the emergent human genome data should allow for the rapid identification of DAT genes in these candidate regions...
  32. pmc Genome-wide screen for heavy alcohol consumption
    Diego F Wyszynski
    Genetics Program, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    BMC Genet 4:S106. 2003
    ....
  33. ncbi Who seeks genetic susceptibility testing for Alzheimer's disease? Findings from a multisite, randomized clinical trial
    J Scott Roberts
    Departments of Neurology and Medicine Genetics Program, Boston University School of Medicine, 715 Albany Street B 7800, Boston, MA 02118, USA
    Genet Med 6:197-203. 2004
    ..This study's main purposes were to estimate interest in such testing and to examine demographic predictors of study participation...
  34. ncbi Risk of dementia among white and African American relatives of patients with Alzheimer disease
    Robert C Green
    Genetics Program and Alzheimer s Disease Center, Boston University School of Medicine, 715 Albany St, L 320, Boston, MA 02118, USA
    JAMA 287:329-36. 2002
    ..Family studies of probands with AD offer an opportunity to evaluate lifetime risk of dementia among relatives of these probands...
  35. ncbi Estimating risk curves for first-degree relatives of patients with Alzheimer's disease: the REVEAL study
    L Adrienne Cupples
    Departments of Biostatistics and Epidemiology, Boston University School of Public Health, 715 Albany Street, Boston, MA 02118, USA
    Genet Med 6:192-6. 2004
    ..The protocol presents risk information as cumulative incidence curves. This article describes how these curves were estimated...
  36. ncbi Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms
    Maya Saleh
    Department of Biochemistry, Molecular Biology and Pharmacology, Merck Frosst Centre for Therapeutic Research, Montreal, Quebec H9H 3L1, Canada
    Nature 429:75-9. 2004
    ..Thus, Csp12-L attenuates the inflammatory and innate immune response to endotoxins and in doing so may constitute a risk factor for developing sepsis...
  37. ncbi Potential ethnic modifiers in the assessment and treatment of Alzheimer's disease: challenges for the future
    Warachal E Faison
    Alzheimer s Research and Clinical Programs, Neurosciences Department, Medical University of South Carolina, Charleston, South Carolina 29406, USA
    Int Psychogeriatr 19:539-58. 2007
    ..for AD to answer two questions: (1) what are the challenges to diagnose and treat AD across different ethnic groups, and (2) are there differences in response to pharmacologic interventions for AD across these different ethnic groups?..
  38. pmc Association between SORL1 and Alzheimer's disease in a genome-wide study
    Yan Meng
    Department of Medicine Genetics Program, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Neuroreport 18:1761-4. 2007
    ..These results provide an independent replication of the association between AD and SORL1...
  39. pmc The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
    Ekaterina Rogaeva
    Centre for Research in Neurodegenerative Diseases, Department of Medicine, Department, University of Toronto, Toronto, Ontario, Canada
    Nat Genet 39:168-77. 2007
    ..These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease...
  40. doi Variation and heritability of Hb F and F-cells among beta-thalassemia heterozygotes in Hong Kong
    Geoffrey T Gibney
    Division of Hematology Oncology, Department of Medicine, Boston University, Boston, Massachusetts02118, USA
    Am J Hematol 83:458-64. 2008
    ....
  41. ncbi Relation between atherogenic dyslipidemia and the Adult Treatment Program-III definition of metabolic syndrome (Genetic Epidemiology of Metabolic Syndrome Project)
    Diego F Wyszynski
    Department of Medicine Genetics Program, Boston University School of Medicine, Boston, MA, USA
    Am J Cardiol 95:194-8. 2005
    ..In subjects aged <35 years, atherogenic dyslipidemia frequently occurs in the absence of other metabolic syndrome risk factors...
  42. ncbi Estimated glomerular filtration rate in sickle cell anemia is associated with polymorphisms of bone morphogenetic protein receptor 1B
    Vikki G Nolan
    Department of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Am J Hematol 82:179-84. 2007
    ..Our results suggest that, as with other subphenotypes of sickle cell disease, renal function may be genetically modulated...
  43. pmc Serum heat shock protein 70 level as a biomarker of exceptional longevity
    Dellara F Terry
    Geriatrics Section, Department of Medicine, Boston University School of Medicine and Boston Medical Center, Boston, MA, USA
    Mech Ageing Dev 127:862-8. 2006
    ..05, 1.13, 3.07, 6.93, respectively, suggesting that a low serum Hsp70 level is associated with longevity; however, no genetic associations were found with two SNPs within two hsp70 genes...
  44. ncbi Association of polymorphisms of IGF1R and genes in the transforming growth factor- beta /bone morphogenetic protein pathway with bacteremia in sickle cell anemia
    Adeboye H Adewoye
    Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA
    Clin Infect Dis 43:593-8. 2006
    ..We suggest that both IGF1R and the TGF-beta /BMP pathway could play important roles in immune function in sickle cell anemia and their polymorphisms may help identify a "bacteremia-prone" phenotype...
  45. pmc Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway
    Vikki G Nolan
    Department of Medicine, Boston University School of Medicine, Boston, MA, USA
    Br J Haematol 133:570-8. 2006
    ..Haemolysis-driven phenotypes, such as leg ulcers, could be improved by agents that reduce sickle erythrocyte density or increase NO bioavailability...
  46. ncbi Association of asthma with a functional promoter polymorphism in the IL16 gene
    Kristin M Burkart
    Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA
    J Allergy Clin Immunol 117:86-91. 2006
    ..A T-->C single nucleotide polymorphism (SNP) at the -295 position in the promoter region of the IL16 gene has been described...
  47. pmc Hemolysis-associated priapism in sickle cell disease
    Vikki G Nolan
    Department of Medicine, Boston University School of Medicine, MA, USA
    Blood 106:3264-7. 2005
    ..These findings suggest an association of priapism with increased hemolysis. Hemolysis decreases the availability of circulating nitric oxide, which plays an important role in erectile function...
  48. ncbi Analysis of the glucocerebrosidase gene in Parkinson's disease
    Christine Sato
    Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada
    Mov Disord 20:367-70. 2005
    ..Our results demonstrate a marginally significant association of GBA mutations with PD and suggest that variations in the GBA gene may constitute a rare susceptibility factor for PD (P = 0.048)...
  49. ncbi Association of single nucleotide polymorphisms in klotho with priapism in sickle cell anaemia
    Vikki G Nolan
    Department of Medicine, Boston University School of Medicine, Boston, MA, USA
    Br J Haematol 128:266-72. 2005
    ..These findings may have broader implications in sickle cell disease, as KL encodes a membrane protein that regulates many vascular functions, including vascular endothelial growth factor expression and endothelial nitric oxide release...
  50. ncbi Predictors of subjective memory complaint in cognitively normal relatives of patients with Alzheimer's disease
    David H Tsai
    Boston University School of Medicine, 715 Albany St, L 320, Boston, MA 02118, USA
    J Neuropsychiatry Clin Neurosci 18:384-8. 2006
    ..Clinicians counseling family members of Alzheimer's disease patients who express subjective memory complaint should first evaluate cognition. If cognition is intact, depression should be considered...