title: IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in Chinese Han population.
abstract: The evaluation of susceptibility loci is an important addition to the current predictive and screening models in type 1 diabetes of Chinese Han population. Therefore, the aim of this study is to provide evidence for the association between type 1 diabetes and two polymorphisms (rs3747517, rs1990760) from interferon induced with helicase C domain 1 (IFIH1). Here, 464 Type 1 diabetes patients and 465 control subjects were genotyped for these 2 polymorphisms. The results indicated that the allelic frequencies of rs3747517 revealed a strong association with type 1 diabetes risk (P < 0.001); yet, no significant association was observed on rs1990760(P = 0.76). Furthermore, IFIH1 rs3747517 polymorphism had no influence on the positive rates of pancreatic auto-antibodies, and both of the polymorphisms had no interaction with HLA class I-linked risk or phenotypes. In conclusion, IFIH1 rs3747517, but not rs1990760 polymorphism, plays an important role in type 1 diabetes risk in Chinese Han population.
authors: Department of Endocrinology, The First Affiliated Hospital, Nanjing Medical University, Nanjing, China.
authors: Hui
authors: H
authors: Yang
authors: Zhixiao
authors: Z
authors: Wang
authors: Kuanfeng
authors: K
authors: Xu
authors: Rong
authors: R
authors: Gu
authors: Heng
authors: H
authors: Chen
authors: Dan
authors: D
authors: Yu
authors: Chunyan
authors: C
authors: Xing
authors: Yu
authors: Y
authors: Liu
authors: Liping
authors: L
authors: Yu
authors: John
authors: J
authors: Hutton
authors: George
authors: G
authors: Eisenbarth
authors: Tao
authors: T
authors: Yang
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D001323:Autoantibodies / Q000276:immunology; D016022:Case-Control Studies; D002681:China; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006680:HLA Antigens / Q000276:immunology; D006801:Humans; D000072640:Interferon-Induced Helicase, IFIH1; D007515:Islets of Langerhans / Q000276:immunology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D001323:Autoantibodies; D006680:HLA Antigens; C452815:IFIH1 protein, human; D053487:DEAD-box RNA Helicases; D000072640:Interferon-Induced Helicase, IFIH1