title: Association analyses between the genetic polymorphisms of HNF4A and FOXO1 genes and Chinese Han patients with type 2 diabetes.
abstract: The hepatocyte nuclear factor 4-alpha (HNF4A) and human forkhead box O1 (FOXO1) genes have been discovered to be associated with type 2 diabetes (T2D) in different populations. This study aimed to evaluate the association between HNF4A and FOXO1 genetic polymorphisms and type 2 diabetes in the Chinese Han population. Five hundred and seventy-seven patients with type 2 diabetes and 462 normal controls were enrolled in this study. Six single-nucleotide polymorphisms (SNPs) in HNF4A and seven in FOXO1 were selected and genotyped with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) or TaqMan(®) technology. Single-locus analyses indicated that the C allele of rs11574736 from HNF4A had a lower frequency in the case group compared with the control group (P = 0.005, OR = 0.74, 95% CI = 0.59-0.92). The genotype distributions of rs11574736 also differed between the two groups (P = 0.02). However, none of the FOXO1 SNPs showed any association with type 2 diabetes in the Chinese Han population. Further analysis suggested the two genes interact with each other (rs3908773/rs717247/rs6031587/rs11574736: P < 0.0001, testing accuracy = 0.55, CV consistency = 6/10). In conclusion, this study shows an association between the HNF4A gene and type 2 diabetes in the Chinese Han population. Moreover, the authors confirmed the results of previous studies for the interaction between HNF4A and FOXO1 in the pathogenesis of type 2 diabetes.
authors: National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, 5 Dongdan 3 Tiao, Beijing 100005, China.
authors: Tianjie
authors: T
authors: Li
authors: Xiaopan
authors: X
authors: Wu
authors: Xilin
authors: X
authors: Zhu
authors: Jingyun
authors: J
authors: Li
authors: Liping
authors: L
authors: Pan
authors: Pengtao
authors: P
authors: Li
authors: Zhenhui
authors: Z
authors: Xin
authors: Ying
authors: Y
authors: Liu
mesh_terms: D000368:Aged; D000483:Alleles; D000704:Analysis of Variance; D044466:Asian People / Q000235:genetics; D002681:China; D003924:Diabetes Mellitus, Type 2 / Q000208:ethnology / Q000235:genetics*; D004843:Epistasis, Genetic; D005260:Female; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006239:Haplotypes; D051557:Hepatocyte Nuclear Factor 4 / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide
chemical_list: C085126:FOXO1 protein, human; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors; C496592:HNF4A protein, human; D051557:Hepatocyte Nuclear Factor 4