Comprehensive evaluation of the estrogen receptor α gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population

We previously investigated the estrogen receptor α gene (ESR1) as a positional candidate for type 2 diabetes (T2DM), and found evidence for association between the intron 1-intron 2 region of this gene and T2DM and/or nephropathy in an African American (AA) population. Our objective was to comprehen...

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Bibliographic Details
Published in:Human genetics 2008-05, Vol.123 (4), p.333-341
Main Authors: Keene, Keith L., Mychaleckyj, Josyf C., Smith, Shelly G., Leak, Tennille S., Perlegas, Peter S., Langefeld, Carl D., Herrington, David M., Freedman, Barry I., Rich, Stephen S., Bowden, Donald W., Sale, Michèle M.
Format: Article
Language:English
Subjects:
Adult
African Americans - genetics
Aged
Biological and medical sciences
Biomedical and Life Sciences
Biomedicine
Case-Control Studies
Classical genetics, quantitative genetics, hybrids
Diabetes Mellitus, Type 2 - genetics
Diabetes. Impaired glucose tolerance
Diabetic Nephropathies - genetics
Endocrine pancreas. Apud cells (diseases)
Endocrinopathies
Estrogen Receptor alpha - genetics
Etiopathogenesis. Screening. Investigations. Target tissue resistance
European Continental Ancestry Group - genetics
Female
Fundamental and applied biological sciences. Psychology
Gene Function
Genetics of eukaryotes. Biological and molecular evolution
Genotype
Human
Human Genetics
Humans
Kidney Failure, Chronic - genetics
Linkage Disequilibrium
Male
Medical sciences
Metabolic Diseases
Middle Aged
Models, Genetic
Molecular Medicine
Original Investigation
Polymorphism, Single Nucleotide
Risk Factors
Southeastern United States
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Summary:We previously investigated the estrogen receptor α gene (ESR1) as a positional candidate for type 2 diabetes (T2DM), and found evidence for association between the intron 1-intron 2 region of this gene and T2DM and/or nephropathy in an African American (AA) population. Our objective was to comprehensively evaluate variants across the entire ESR1 gene for association in AA with T2DM and end stage renal disease (T2DM–ESRD). One hundred fifty SNPs in ESR1, spanning 476 kb, were genotyped in 577 AA individuals with T2DM–ESRD and 596 AA controls. Genotypic association tests for dominant, additive, and recessive models, and haplotypic association, were calculated using a χ 2 statistic and corresponding P value. Thirty-one SNPs showed nominal evidence for association ( P  
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-008-0482-z