作者
Hui-Qi Qu, Dominique J Verlaan, Bing Ge, Yang Lu, Kevin CL Lam, Rosemarie Grabs, Eef Harmsen, Thomas J Hudson, Hakon Hakonarson, Tomi Pastinen, Constantin Polychronakos
发表日期
2009/10/15
期刊
The Journal of Immunology
卷号
183
期号
8
页码范围
5158-5162
出版商
American Association of Immunologists
简介
The mechanism for the association of type 1 diabetes (T1D) with IL2RA remains to be clarified. Neither of the two distinct, transmission-disequilibrium confirmed loci mapping to this gene can be explained by a coding variant. An effect on the levels of the soluble protein product sIL-2RA has been reported but its cause and relationship to disease risk is not clear. To look for an allelic effect on IL2RA transcription in cis, we examined RNA from 48 heterozygous lymphocyte samples for differential allele expression. Of the 48 samples, 32 showed statistically significant allelic imbalance. No known single nucleotide polymorphism (SNP) had perfect correlation with this transcriptional effect but the one that showed the most significant (p= 1.6× 10− 5) linkage disequilibrium with it was the SNP rs3118470. We had previously shown rs3118470 to confer T1D susceptibility in a Canadian dataset, independently of rs41295061 as …
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HQ Qu, DJ Verlaan, B Ge, Y Lu, KCL Lam, R Grabs… - The Journal of Immunology, 2009