Qu H Q, Tessier M C, Fréchette R, Bacot F, Polychronakos C
Endocrine Genetics Laboratory, The McGill University Health Center, (Montreal Children's Hospital), Montréal, QC, Canada.
Diabetologia. 2006 May;49(5):958-61. doi: 10.1007/s00125-006-0199-2. Epub 2006 Mar 15.
AIMS/HYPOTHESIS: The association between IL4R and type 1 diabetes has been tested in many studies in recent years, with contradictory results. The aim of this study was to re-evaluate the genetic association in type 1 diabetic nuclear families of mixed European background.
SUBJECTS, MATERIALS AND METHODS: We genotyped six non-synonymous single-nucleotide polymorphisms (SNPs) of the IL4R gene in 830 nuclear families as specified above, including a French Canadian subset.
No association between type 1 diabetes and any SNP or haplotype was found by the transmission disequilibrium test.
CONCLUSIONS/INTERPRETATION: Previous positive reports may be due to population stratification as, according to HapMap data, allele frequencies in the IL4R region vary considerably by ethnicity.
目的/假设：近年来，许多研究对白细胞介素4受体（IL4R）与1型糖尿病之间的关联进行了检测，但结果相互矛盾。本研究的目的是重新评估具有混合欧洲背景的1型糖尿病核心家庭中的基因关联。
对象、材料与方法：我们对上述830个核心家庭（包括一个法裔加拿大人子集）的IL4R基因的六个非同义单核苷酸多态性（SNP）进行了基因分型。
传递不平衡检验未发现1型糖尿病与任何SNP或单倍型之间存在关联。
结论/解读：根据HapMap数据，IL4R区域的等位基因频率因种族而异，之前的阳性报告可能是由于人群分层所致。
