The type I diabetes association of the IL2RA locus.
Genes Immun
; 10 Suppl 1: S42-8, 2009 Dec.
Article
in En
| MEDLINE
| ID: mdl-19956099
ABSTRACT
To confirm and fine map previous reports of association, the Type I Diabetes (T1D) Genetics Consortium (T1DGC) assembled a large collection of DNA samples from affected sib-pair (ASP) families with T1D (5003 affected individuals) and genotyped polymorphic markers. One of these loci, involving the IL2RA gene, had been reported to be due to three independent effects. The T1DGC genotyped 69 single-nucleotide polymorphisms (SNPs) that span approximately 88 kb from the 5' flanking to 3' flanking region of the IL2RA locus. The most highly associated SNP reported earlier (ss52580101) was not included in the genotyping list; however, a 5-SNP (rs3134883, rs3118470, rs7072793, rs4749955 and rs12251307) haplotype (H5) was identified that strongly tagged its minor allele with r(2)=0.869 (95% CI, 0.850-0.885). This haplotype was significantly protective (P=3.2 x 10(-5)) in the T1D ASP families, with an odds ratio virtually identical to that reported for ss52580101. The SNP marking the second independent locus, (rs11594656) showed no association in the T1DGC set and the third (rs2104286) could not be distinguished, by conditional regression, from H5. Instead, the most significant independent effect was detected from the 5' flanking IL2RA SNP rs4749955, which remained significant after regression for H5. Thus, we confirm independent effects at the IL2RA locus.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Polymorphism, Single Nucleotide
/
Diabetes Mellitus, Type 1
/
Interleukin-2 Receptor alpha Subunit
/
Genetic Loci
Type of study:
Risk_factors_studies
Limits:
Humans
Language:
En
Journal:
Genes Immun
Journal subject:
ALERGIA E IMUNOLOGIA
/
BIOLOGIA MOLECULAR
Year:
2009
Document type:
Article
Affiliation country:
Canada