title: Association between polymorphisms in RAPGEF1, TP53, NRF1 and type 2 diabetes in Chinese Han population.
abstract: Type 2 diabetes is a common complex disorder with environmental and genetic components. The aim of the present study was to investigate the association between the polymorphisms of RAPGEF1, TP53 and NRF1 and the risk of type 2 diabetes in the Chinese Han population. We genotyped rs11243444 (RAPGEF1), rs1042522 (TP53) and rs1882095 (NRF1) in a case-control study, including 273 type 2 diabetes and 247 healthy controls. A significant association was found in a variant of TP53 (rs1042522, odd ratio (OR)=1.28, 95% confidence interval (CI)=1.00-1.64; P=0.046), whereas polymorphisms in RAPGEF1, NRF1 were not associated with the risk of type 2 diabetes. Furthermore, a potential gene-gene interaction showed the odds of being affected with type 2 diabetes was 2.54 times greater in subjects with the TP53 (rs1042522) and RAPGEF1 (rs11243444) risk alleles than those without either (95% CI=1.34-4.81; P=0.004) and the NRF1 gene polymorphism reached significance when paired with TP53:(OR=3.87, 95% CI=1.87-8.40; P=0.0006). We demonstrated that the polymorphism in TP53 (rs1042522) was associated with type 2 diabetes, and that potential interaction of TP53 (rs1042522) and RAPGEF1 (rs11243444), or NRF1 (rs1882095) increased the risk of type 2 diabetes.
authors.affiliation: Central Laboratory of Nanjing First Hospital Affiliated to Nanjing Medical University, 68 Changle Road, Nanjing, Jiangsu, China. qulinyd@yahoo.com.cn
authors.forename: Lili
authors.initials: L
authors.lastname: Qu
authors.forename: Bangshun
authors.initials: B
authors.lastname: He
authors.forename: Yuqin
authors.initials: Y
authors.lastname: Pan
authors.forename: Yongfei
authors.initials: Y
authors.lastname: Xu
authors.forename: Chan
authors.initials: C
authors.lastname: Zhu
authors.forename: Zhipeng
authors.initials: Z
authors.lastname: Tang
authors.forename: Qian
authors.initials: Q
authors.lastname: Bao
authors.forename: Fuliang
authors.initials: F
authors.lastname: Tian
authors.forename: Shukui
authors.initials: S
authors.lastname: Wang
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D051266:Nuclear Respiratory Factor 1 / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D020662:Guanine Nucleotide Exchange Factors; D051266:Nuclear Respiratory Factor 1; D016159:Tumor Suppressor Protein p53