Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study.
Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study.
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DOI：
10.1186/s12881-018-0715-5
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发表时间：
2018-11-20
影响因子：
--
通讯作者：
Al Ali A
中科院分区：
文献类型：
--
作者：
Chathoth S;Ismail MH;Vatte C;Cyrus C;Al Ali Z;Ahmed KA;Acharya S;Al Barqi AM;Al Ali A
肥胖是世界范围内发病和死亡的主要原因之一。超过120个基因已被证明与肥胖相关的表型。本研究的目的是确定解偶联蛋白1（UCP 1）和尼曼-匹克C1（NPC 1）基因的遗传多态性在沙特阿拉伯肥胖人群中的作用。采用TaqMan荧光定量PCR技术检测492例受试者的rs 1800592、rs 10011540和rs3811791（UCP 1基因）和rs 1805081和rs 1805082（NPC 1基因）基因型。此外，进行毛细管测序测定以鉴定两种特异性多态性，rs 45539933（外显子2）和rs 2270565（外显子5）。在调整年龄、性别和2型糖尿病后，在肥胖队列中观察到UCP 1多态性rs 1800592 [OR，1.52（1.10-2.08）; p = 0.009]的显著相关性。进一步基于BMI的分层显示，这种关联与中度和极度肥胖队列不一致。UCP 1多态性rs3811791仅在中度肥胖队列中观察到显著相关[OR = 2.89（1.33-6.25）; p = 0.007]，但在极度肥胖队列中未观察到，表明中度肥胖和极度肥胖之间存在重叠的遗传复杂性。高密度脂蛋白、低密度脂蛋白和甘油三酯水平异常的危险等位基因频率在中度肥胖队列中较高。UCP 1基因的rs 1800592和rs3811791与总体肥胖相关，尤其是在中度肥胖组中。UCP 1基因多态性在中度肥胖组中可能调节能量代谢受损，在肥胖的早期阶段起重要作用。本文的在线版本（10.1186/s12881-018-0715-5）包含补充材料，可供授权用户使用。
Obesity is one of the main causes of morbidity and mortality worldwide. More than 120 genes have been shown to be associated with obesity related phenotypes. The aim of this study was to determine the effect of selected genetic polymorphisms in Uncoupling protein 1 (UCP1) and Niemann-Pick C1 (NPC1) genes in an obese population in Saudi Arabia. The genotypes of rs1800592, rs10011540 and rs3811791 (UCP1 gene) and rs1805081 and rs1805082 (NPC1 gene) were determined in a total of 492 subjects using TaqMan chemistry by Real-time PCR. In addition, capillary sequencing assay was performed to identify two specific polymorphisms viz., rs45539933 (exon 2) and rs2270565 (exon 5) of UCP1 gene. A significant association of UCP1 polymorphisms rs1800592 [OR, 1.52 (1.10–2.08); p = 0.009] was observed in the obese cohort after adjusting with age, sex and type 2 diabetes. Further BMI based stratification revealed that this association was inconsistent with both moderate and extreme obese cohort. A significant association of UCP1 polymorphisms rs3811791 was observed only in the moderate-obese cohort [OR = 2.89 (1.33–6.25); p = 0.007] but not in the extreme-obese cohort indicating an overlying genetic complexity between moderate-obesity and extreme-obesity. The risk allele frequencies, which were higher in moderate-obese cohort, had abnormal HDL, LDL and triglyceride levels. The rs1800592 and rs3811791 of UCP1 gene are associated with obesity in general and in the moderate-obese group in particular. The associated UCP1 polymorphisms in the moderate-obese group may regulate the impaired energy metabolism which plays a significant role in the initial stages of obesity. The online version of this article (10.1186/s12881-018-0715-5) contains supplementary material, which is available to authorized users.
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影响因子：
9.8
作者：
Hayakawa, T;Nagai, Y;Kobayashi, K
通讯作者：
Kobayashi, K
影响因子：
--
作者：
Mejía-Benítez A;Klünder-Klünder M;Yengo L;Meyre D;Aradillas C;Cruz E;Pérez-Luque E;Malacara JM;Garay ME;Peralta-Romero J;Flores-Huerta S;García-Mena J;Froguel P;Cruz M;Bonnefond A
通讯作者：
Bonnefond A
影响因子：
8.2
作者：
Dalgaard, LT;Pedersen, O
通讯作者：
Pedersen, O
影响因子：
3.2
作者：
Catalan, Victoria;Gomez-Ambrosi, Javier;Fruehbeck, Gema
通讯作者：
Fruehbeck, Gema
影响因子：
15.9
作者：
Kopecky, J;Clarke, G;Kozak, LP
通讯作者：
Kozak, LP