Association of variations in the FTO, SCG3 and MTMR9 genes with metabolic syndrome in a Japanese population
Association of variations in the FTO, SCG3 and MTMR9 genes with metabolic syndrome in a Japanese population
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DOI：
10.1038/jhg.2011.74
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发表时间：
2011-09-01
影响因子：
3.5
通讯作者：
Sekine, Akihiro
中科院分区：
文献类型：
--
作者：
Hotta, Kikuko;Kitamoto, Takuya;Sekine, Akihiro
代谢综合征被定义为一组多个危险因素，包括中心性肥胖、血脂异常、高血压和糖耐量受损，这些因素增加心血管疾病的发病率和死亡率。遗传因素在代谢综合征的发展中很重要，环境因素也是如此。然而，代谢综合征的遗传背景尚未完全阐明。有证据表明，肥胖和肥胖相关表型与几个基因的变异有关，包括NEGR 1、SEC 16 B、TMEM 18、ETV 5、GNPDA 2、BDNF、MTCH 2、SH 2B 1、FTO、MAF、MC 4 R、KCTD 15、SCG 3、MTMR 9、TFAP 2B、MSRA、LYPLAL 1、GCKR和FADS 1。为了研究日本人群中代谢综合征与这些基因变异之间的关系，我们对1096名代谢综合征患者和581名无代谢综合征危险因素的对照者的19个基因的33个单核苷酸多态性（SNP）进行了基因分型。FTO基因中的4个SNP与代谢综合征显著相关：rs 9939609（P=0.00013）、rs 8050136（P=0.00011）、rs 1558902（P=6.6 x 10（-5））和rs 1421085（P=7.4 x 10（-5））。SCG 3基因中的rs3764220（P=0.0010）和MTMR 9基因中的rs 2293855（P=0.0015）也与代谢综合征显著相关。FTO、SCG 3和MTMR 9基因中的SNP对代谢综合征没有SNP x SNP上位效应。我们的数据表明，FTO、SCG 3和MTMR 9基因的遗传变异独立影响代谢综合征的风险。Journal of Human Genetics（2011）56，647-651; doi：10.1038/jhg.2011.74; 2011年7月28日在线发表
Metabolic syndrome is defined as a cluster of multiple risk factors, including central obesity, dyslipidemia, hypertension and impaired glucose tolerance, that increase cardiovascular disease morbidity and mortality. Genetic factors are important in the development of metabolic syndrome, as are environmental factors. However, the genetic background of metabolic syndrome is not yet fully clarified. There is evidence that obesity and obesity-related phenotypes are associated with variations in several genes, including NEGR1, SEC16B, TMEM18, ETV5, GNPDA2, BDNF, MTCH2, SH2B1, FTO, MAF, MC4R, KCTD15, SCG3, MTMR9, TFAP2B, MSRA, LYPLAL1, GCKR and FADS1. To investigate the relationship between metabolic syndrome and variations in these genes in the Japanese population, we genotyped 33 single-nucleotide polymorphisms (SNPs) in 19 genes from 1096 patients with metabolic syndrome and 581 control individuals who had no risk factors for metabolic syndrome. Four SNPs in the FTO gene were significantly related to metabolic syndrome: rs9939609 (P=0.00013), rs8050136 (P=0.00011), rs1558902 (P=6.6 x 10(-5)) and rs1421085 (P=7.4 x 10(-5)). rs3764220 in the SCG3 gene (P=0.0010) and rs2293855 in the MTMR9 gene (P=0.0015) were also significantly associated with metabolic syndrome. SNPs in the FTO, SCG3 and MTMR9 genes had no SNP x SNP epistatic effects on metabolic syndrome. Our data suggest that genetic variations in the FTO, SCG3 and MTMR9 genes independently influence the risk of metabolic syndrome. Journal of Human Genetics (2011) 56, 647-651; doi: 10.1038/jhg.2011.74; published online 28 July 2011