Genetic variations in the CYP17A1 and NT5C2 genes are associated with a reduction in visceral and subcutaneous fat areas in Japanese women
Genetic variations in the CYP17A1 and NT5C2 genes are associated with a reduction in visceral and subcutaneous fat areas in Japanese women
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DOI：
10.1038/jhg.2011.127
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发表时间：
2012-01-01
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, Aya;Sekine, Akihiro
内脏脂肪堆积会增加罹患多种代谢性疾病（如 2 型糖尿病、血脂异常和高血压）的风险，从而在增加发病率和死亡率方面发挥重要作用。在白种人群体中进行的全基因组关联研究已经确定了与收缩压和舒张压升高相关的新基因位点。本研究调查了导致高血压易感性的单核苷酸多态性 (SNP) 是否也与内脏脂肪肥胖相关。我们对 1279 名日本受试者（556 名男性和 723 名女性）进行了基因分型，这些受试者接受了计算机断层扫描，以测量以下 SNP 的内脏脂肪面积 (VFA) 和皮下脂肪面积 (SFA)：FGF5 rs16998073、CACNB2 rs11014166、C10orf107 rs1530440、CYP17A1 rs1004467、NT5C2 rs11191548、PLEKHA7 rs381815、ATP2B1 rs2681472 和 rs2681492、ARID3B rs6495112、CSK rs1378942、PLCD3 rs12946454 和 ZNF652 rs16948048。在附加模型中，发现 CYP17A1 rs1004467 和 NT5C2 rs11191548 的风险等位基因与 SFA 降低显着相关（P 分别为 0.00011 和 0.0016）。当对男性和女性分别进行分析时，在女性中观察到 rs1004467（加性模型）和 rs11191548（隐性模型）与 VFA（分别为 P=0.0018 和 0.0022）和 SFA（分别为 P=0.00039 和 0.00059）减少之间的显着相关性，但在男性中则没有观察到。我们的结果表明，CYP17A1 和 NT5C2 基因的多态性影响日本女性内脏和皮下脂肪量的减少。人类遗传学杂志 (2012) 57, 46-51; doi：10.1038/jhg.2011.127； 2011 年 11 月 10 日在线发布
Visceral fat accumulation has an important role in increasing the morbidity and mortality rates, by increasing the risk of developing several metabolic disorders, such as type 2 diabetes, dyslipidemia and hypertension. New genetic loci that are associated with increased systolic and diastolic blood pressures have been identified by genome-wide association studies in Caucasian populations. This study investigates whether single nucleotide polymorphisms (SNPs) that confer susceptibility to high blood pressure are also associated with visceral fat obesity. We genotyped 1279 Japanese subjects (556 men and 723 women) who underwent computed tomography for measuring the visceral fat area (VFA) and subcutaneous fat area (SFA) at the following SNPs: FGF5 rs16998073, CACNB2 rs11014166, C10orf107 rs1530440, CYP17A1 rs1004467, NT5C2 rs11191548, PLEKHA7 rs381815, ATP2B1 rs2681472 and rs2681492, ARID3B rs6495112, CSK rs1378942, PLCD3 rs12946454, and ZNF652 rs16948048. In an additive model, risk alleles of the CYP17A1 rs1004467 and NT5C2 rs11191548 were found to be significantly associated with reduced SFA (P=0.00011 and 0.0016, respectively). When the analysis was performed separately in men and women, significant associations of rs1004467 (additive model) and rs11191548 (recessive model) with reduced VFA (P=0.0018 and 0.0022, respectively) and SFA (P=0.00039 and 0.00059, respectively) were observed in women, but not in men. Our results suggest that polymorphisms in the CYP17A1 and NT5C2 genes influence a reduction in both visceral and subcutaneous fat mass in Japanese women. Journal of Human Genetics (2012) 57, 46-51; doi: 10.1038/jhg.2011.127; published online 10 November 2011