RGD Reference Report - Comprehensive evaluation of the estrogen receptor alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population.

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Comprehensive evaluation of the estrogen receptor alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population.
Authors:	Keene, KL Mychaleckyj, JC Smith, SG Leak, TS Perlegas, PS Langefeld, CD Herrington, DM Freedman, BI Rich, SS Bowden, DW Sale, MM
Citation:	Keene KL, etal., Hum Genet. 2008 May;123(4):333-41. Epub 2008 Feb 28.
RGD ID:	2314005
Pubmed:	PMID:18305958 (View Abstract at PubMed)
PMCID:	PMC2752813 (View Article at PubMed Central)
DOI:	DOI:10.1007/s00439-008-0482-z (Journal Full-text)
We previously investigated the estrogen receptor alpha 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 chi(2) statistic and corresponding P value. Thirty-one SNPs showed nominal evidence for association (P < 0.05) with T2DM-ESRD in one or more genotypic model. After correcting for multiple tests, promoter SNP rs11964281 (nominal P = 0.000291, adjusted P = 0.0289), and intron 4 SNPs rs1569788 (nominal P = 0.000754, adjusted P = 0.0278) and rs9340969 (nominal P = 0.00109, adjusted P = 0.0467) remained significant at experimentwise error rate (EER) P

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Object Symbol	Species	Term	Qualifier	Evidence	With	Notes	Source	Original Reference(s)
ESR1	Human	Diabetic Nephropathies		IAGP		associated with Diabetes Mellitus more ...	RGD
Esr1	Rat	Diabetic Nephropathies		ISO	ESR1 (Homo sapiens)	associated with Diabetes Mellitus more ...	RGD
Esr1	Mouse	Diabetic Nephropathies		ISO	ESR1 (Homo sapiens)	associated with Diabetes Mellitus more ...	RGD

Objects Annotated

Genes (Rattus norvegicus)

Esr1 (estrogen receptor 1)

Genes (Mus musculus)

Esr1 (estrogen receptor 1 (alpha))

Genes (Homo sapiens)

ESR1 (estrogen receptor 1)

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