Source:http://linkedlifedata.com/resource/pubmed/id/17327435
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2007-2-28
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pubmed:abstractText |
The estrogen receptor-alpha gene (ESR1) was selected as a positional candidate under a type 2 diabetes linkage peak at 6q24-27. A total of 42 ESR1 single nucleotide polymorphisms (SNPs) were genotyped in 380 African-American type 2 diabetic case subjects with end-stage renal disease (ESRD) and 276 African-American control subjects. A total of 22 ancestry informative markers were also genotyped, and the program Admixmap was used to adjust allelic and haplotypic association tests for individual estimates of admixture. The most significant association with type 2 diabetes-ESRD was with rs1033182 in intron 2 (P = 0.013, admixture-adjusted P(a) = 0.021). Genotyping 17 SNPs across a region of ESR1 intron 1-intron 2 in an expanded population of 851 case and 635 control subjects supported association with rs1033182 (P = 0.004, P(a) = 0.027) and with an independent six-SNP haplotype of high linkage disequilibrium spanning 6.4 kb (P < 0.0001, P(a) < 0.0001). The same 17 ESR1 SNPs were genotyped in 300 European-American type 2 diabetes-ESRD case subjects and 310 European-American control subjects. Two intron 2 SNPs, rs2431260 (P = 0.015) and rs1709183 (P = 0.019), and a four-SNP haplotype containing these SNPs (P = 0.033) were associated with type 2 diabetes and/or ESRD. Results suggest that intron 1 and intron 2 of the ESR1 gene may contain functionally important regions related to type 2 diabetes or ESRD risk.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0012-1797
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pubmed:author |
pubmed-author:BowdenDonald WDW,
pubmed-author:FreedmanBarry IBI,
pubmed-author:GallagherCarla JCJ,
pubmed-author:GordonCandace JCJ,
pubmed-author:HendersonBrian EBE,
pubmed-author:HirschhornJoel NJN,
pubmed-author:KeeneKeith LKL,
pubmed-author:LangefeldCarl DCD,
pubmed-author:MychaleckyjJosyf CJC,
pubmed-author:RichStephen SSS,
pubmed-author:SaleMichèle MMM
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pubmed:issnType |
Print
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pubmed:volume |
56
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
675-84
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:17327435-African Americans,
pubmed-meshheading:17327435-Aged,
pubmed-meshheading:17327435-Case-Control Studies,
pubmed-meshheading:17327435-Diabetes Mellitus, Type 2,
pubmed-meshheading:17327435-Diabetic Nephropathies,
pubmed-meshheading:17327435-Estrogen Receptor alpha,
pubmed-meshheading:17327435-European Continental Ancestry Group,
pubmed-meshheading:17327435-Exons,
pubmed-meshheading:17327435-Female,
pubmed-meshheading:17327435-Genetic Linkage,
pubmed-meshheading:17327435-Genetic Predisposition to Disease,
pubmed-meshheading:17327435-Humans,
pubmed-meshheading:17327435-Introns,
pubmed-meshheading:17327435-Kidney Failure, Chronic,
pubmed-meshheading:17327435-Male,
pubmed-meshheading:17327435-Middle Aged,
pubmed-meshheading:17327435-Polymorphism, Single Nucleotide
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pubmed:year |
2007
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pubmed:articleTitle |
Investigation of the estrogen receptor-alpha gene with type 2 diabetes and/or nephropathy in African-American and European-American populations.
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pubmed:affiliation |
Center for Human Genomics, Wake Forest University School of Medicine, Medical Center Blvd., Winston-Salem, NC 27157, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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