Kong Xiaomu, Zhang Xuelian, Xing Xiaoyan, Zhang Bo, Hong Jing, Yang Wenying
Department of Endocrinology, China-Japan Friendship Hospital, Beijing, China.
PLoS One. 2015 Nov 24;10(11):e0143607. doi: 10.1371/journal.pone.0143607. eCollection 2015.
Metabolic syndrome (MetS) is prevalent in type 2 diabetes (T2D) patients. The comorbidity of MetS and T2D increases the risk of cardiovascular complications. The aim of the present study was to determine the T2D-related genetic variants that contribute to MetS-related components in T2D patients of Chinese ancestry. We successfully genotyped 25 genome wide association study validated T2D-related single nucleotide polymorphisms (SNPs) among 5,169 T2D individuals and 4,560 normal glycemic controls recruited from the Chinese National Diabetes and Metabolic Disorders Study (DMS). We defined MetS in this population using the harmonized criteria (2009) combined with the Chinese criteria for abdominal obesity. The associations between SNPs and MetS-related components, as well as the associations between SNPs and risk for T2D with or without MetS, were subjected to logistic regression analysis adjusted for age and sex. Results showed that the T2D risk alleles of rs243021 located near BCL11A, rs10830963 in MTNR1B, and rs2237895 in KCNQ1 were related to a lower risk for abdominal obesity in T2D patients (rs243021: 0.92 (0.84, 1.00), P = 4.42 × 10-2; rs10830963: 0.92 (0.85, 1.00), P = 4.07 × 10-2; rs2237895: 0.89 (0.82, 0.98), P = 1.29 × 10-2). The T2D risk alleles of rs972283 near KLF14 contributed to a higher risk of elevated blood pressure (1.10 (1.00, 1.22), P = 4.48 × 10-2), while the T2D risk allele of rs7903146 in TCF7L2 was related to a lower risk for elevated blood pressure (0.74 (0.61, 0.90), P = 2.56 × 10-3). The T2D risk alleles of rs972283 near KLF14 and rs11634397 near ZFAND6 were associated with a higher risk for elevated triglycerides (rs972283: 1.11 (1.02, 1.24), P = 1.46 × 10-2; rs11634397: 1.14 (1.00, 1.29), P = 4.66 × 10-2), while the T2D risk alleles of rs780094 in GCKR and rs7903146 in TCF7L2 were related to a lower risk of elevated triglycerides (rs780094: 0.86 (0.80, 0.93), P = 1.35 × 10-4; rs7903146: 0.82 (0.69, 0.98), P = 3.18 × 10-2). The genotype risk score of the 25 T2D-related SNPs was related to a lower risk for abdominal obesity (Ptrend = 1.29 × 10-2) and lower waist circumference (P = 2.20 × 10-3). Genetic variants of WFS1, CDKAL1, CDKN2BAS, TCF7L2, HHEX, KCNQ1, TSPAN8/LGR5, FTO, and TCF2 were associated with the risk for T2D with MetS, as well as the risk for development of T2D with at least one of the MetS components (P < 0.05). In addition, genetic variants of BCL11A, GCKR, ADAMTS9, CDKAL1, KLF14, CDKN2BAS, TCF7L2, CDC123/CAMK1D, HHEX, MTNR1B, and KCNQ1 contributed to the risk for T2D without MetS (P < 0.05). In conclusion, these findings highlight the contribution of T2D-related genetic loci to MetS in a Chinese Han population. The study also provides insight into the pleotropic effects of genome-wide association loci of diabetes on metabolic regulation.
代谢综合征(MetS)在2型糖尿病(T2D)患者中普遍存在。MetS与T2D的合并症增加了心血管并发症的风险。本研究的目的是确定在中国血统的T2D患者中,与MetS相关组分有关的T2D相关基因变异。我们成功地对从中国国家糖尿病和代谢紊乱研究(DMS)招募的5169例T2D个体和4560例血糖正常对照者中的25个全基因组关联研究验证的T2D相关单核苷酸多态性(SNP)进行了基因分型。我们使用统一标准(2009年)结合中国腹部肥胖标准来定义该人群中的MetS。对SNP与MetS相关组分之间的关联,以及SNP与有或无MetS的T2D风险之间的关联进行年龄和性别校正的逻辑回归分析。结果显示,位于BCL11A附近的rs243021、MTNR1B中的rs10830963以及KCNQ1中的rs2237895的T2D风险等位基因与T2D患者腹部肥胖风险较低相关(rs243021:0.92(0.84,1.00),P = 4.42×10 - 2;rs10830963:0.92(0.85,1.00),P = 4.07×10 - 2;rs2237895:0.89(0.82,0.98),P = 1.29×10 - 2)。KLF14附近的rs972283的T2D风险等位基因导致血压升高风险较高(1.10(1.00,1.22),P = 4.48×10 - 2),而TCF7L2中rs7903146的T2D风险等位基因与血压升高风险较低相关(0.74(0.61,0.90),P = 2.56×10 - 3)。KLF14附近的rs972283和ZFAND6附近的rs11634397的T2D风险等位基因与甘油三酯升高风险较高相关(rs972283:1.11(1.02,1.24),P = 1.46×10 - 2;rs11634397:1.14(1.00,1.29),P = 4.66×10 - 2),而GCKR中rs780094和TCF7L2中rs7903146的T2D风险等位基因与甘油三酯升高风险较低相关(rs780094:0.86(0.80,0.93),P = 1.35×10 - 4;rs7903146:0.82(0.69,0.98),P = 3.18×10 - 2)。25个T2D相关SNP的基因型风险评分与腹部肥胖风险较低(Ptrend = 1.29×10 - 2)和腰围较低(P = 2.20×10 - 3)相关。WFS1、CDKAL1、CDKN2BAS、TCF7L2、HHEX、KCNQ1、TSPAN8/LGR5、FTO和TCF2的基因变异与伴有MetS的T2D风险以及伴有至少一种MetS组分的T2D发生风险相关(P < 0.05)。此外,BCL11A、GCKR、ADAMTS9、CDKAL1、KLF14、CDKN2BAS、TCF7L2、CDC123/CAMK1D、HHEX、MTNR1B和KCNQ1的基因变异导致无MetS的T2D风险增加(P < 0.05)。总之,这些发现突出了T2D相关基因座对中国汉族人群中MetS的贡献。该研究还提供了关于糖尿病全基因组关联位点对代谢调节的多效性作用的见解。