title: Associations between INSR and MTOR polymorphisms in type 2 diabetes mellitus and diabetic nephropathy in a Northeast Chinese Han population.
abstract: We explored the associations of INSR and mTOR, 2 key genes in the insulin signaling pathway, and the susceptibility to type 2 diabetes mellitus and diabetic nephropathy. Three single-nucleotide polymorphisms (SNPs) (rs1799817, rs1051690, and rs2059806) in INSR and 3 SNPs (rs7211818, rs7212142, and rs9674559) in mTOR were genotyped using the Sequenom MassARRAY iPLEX platform in 89 type 2 diabetes patients without diabetic nephropathy, 134 type 2 diabetes patients with diabetic nephropathy, and 120 healthy control subjects. Statistical analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95% confidence interval (95%CI) for each SNP. Combination analyses between rs2059806 and rs7212142 were also performed using the X(2) test and logistic regression. Among these 6 SNPs, 4 (rs1799817, rs1051690, rs7211818, and rs9674559) showed no association with type 2 diabetes mellitus or diabetic nephropathy. However, rs2059806 in INSR was associated with both type 2 diabetes mellitus (P = 0.033) and type 2 diabetic nephropathy (P = 0.018). The rs7212142 polymorphism in mTOR was associated with type 2 diabetic nephropathy (P = 0.010, OR = 0.501, 95%CI = 0.288- 0.871), but showed no relationship with type 2 diabetes mellitus. Combination analysis revealed that rs2059806 and rs7212142 had a combined effect on susceptibility to type 2 diabetes mellitus and diabetic nephropathy. Our results suggest that both INSR and mTOR play a role in the predisposition of the Han Chinese population to type 2 diabetic nephropathy, but the genetic predisposition may show some differences.
authors: School of Biotechnology, Southern Medical University, Guangzhou, China.
authors: A N
authors: AN
authors: Zhu
authors: School of Biotechnology, Southern Medical University, Guangzhou, China.
authors: X X
authors: XX
authors: Yang
authors: Guangzhou Center for Disease Control and Prevention, Guangzhou, China.
authors: M Y
authors: MY
authors: Sun
authors: Da An Gene Co., Ltd. of Sun Yat-sen University, Guangzhou, China.
authors: Z X
authors: ZX
authors: Zhang
authors: School of Biotechnology, Southern Medical University, Guangzhou, China mingli2006_2006@126.com.
authors: M
authors: M
authors: Li
mesh_terms: D000328:Adult; D000368:Aged; D015703:Antigens, CD / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D003928:Diabetic Nephropathies / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011972:Receptor, Insulin / Q000235:genetics*; D017422:Sequence Analysis, DNA; D058570:TOR Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D015703:Antigens, CD; C546842:MTOR protein, human; C435941:INSR protein, human; D011972:Receptor, Insulin; D058570:TOR Serine-Threonine Kinases