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[新疆汉族和维吾尔族人群β3-肾上腺素能受体基因多态性分布及其与血脂的关系]

[Distribution of β3-adrenergic receptors gene polymorphisms and its association with serum lipid in Han and Uighur populations in Xinjiang].

作者信息

Zhang Jinyu, Li Xiaomei, Yang Yining, Ma Yitong, Xie Xiang, Xiang Yang, Liu Fen, Chen Bangdang, Pan Shuo, Dong Xinghui

机构信息

The Cardiovascular Center.

The Cardiovascular Center; Email:

出版信息

Zhonghua Liu Xing Bing Xue Za Zhi. 2015 Jun;36(6):653-7.

Abstract

OBJECTIVE

To investigate the distribution of β3-adrenergic receptors (ADRβ3) gene polymorphisms (rs2298423 and rs6986132) and its association with serum lipid in Han and Uighur populations in Xinjiang.

METHODS

Genotypes of the ADR β 3 gene were detected in 362 Uighur and 653 Han healthy individuals who were randomly selected in Xinjiang by real-time PCR (TaqMan) method.

RESULTS

  1. Frequencies of TT, GT and GG genotypes of the rs2298423 locus were 76.5%, 22.1% and 1.4% in the Uighurs but 74.7%, 23.3% and 2.0% in the Hans. There was no significant difference noticed in distribution of genotypes between the two populations (P = 0.695). 2) Frequencies of GG, AG and AA genotypes of the rs6986132 locus were 81.5%, 16.6% and 1.9% in Uighurs but 59.6%, 33.7% and 6.7% in Hans. There was significant difference noticed in the distribution of genotypes between the two populations (P < 0.001). 3) Total cholesterol and low density lipoprotein cholesterol levels were significantly higher in GG or GT genotypes than in the TT genotype carriers of rs2298423 in the Uighur individuals (P < 0.01), but not in the Han population. Serum lipid level that including total cholesterol (TC), low density lipoproteins cholesterol (LDL-C), triglyceride and high density lipoproteins cholesterol did not show significant differences in the distribution of rs6986132 genotypes between the two populations (P > 0.05). After adjusting for factors as gender, age, height, weight, waist circumference, blood urea nitrogen, creatin, glucose, triglyceride, smoking, drinking, results from the logistic regression analyses revealed that those individuals who were carrying GG or GT genotype of rs2298423 were expected to face an increased risk for total cholesterol and low density lipoprotein cholesterol level than those individuals that carrying TT genotype in Uighur populations (OR = 3.140, 95% CI: 1.270-7.764, P = 0.013 in TC level; OR = 3.818, 95% CI: 1.761-8.280, P = 0.001 in LDL-C level). 4) The T-G haplotype appeared more frequent in the Uighurs while the T-A haplotype was more commonly seen in the Han population, respectively (both P < 0.001).

CONCLUSION

The mutational frequencies of the tagging SNPs in rs2298423 and rs6986132 loci of the ADRβ 3 gene presented obvious differences between Han and Uighur populations of Xinjiang. G allele carriers of rs2298423 seemed to face an increased risk for TC and LDL-C level in the Uighur populations in Xinjiang.

摘要

目的

探讨新疆汉族和维吾尔族人群β3-肾上腺素能受体(ADRβ3)基因多态性(rs2298423和rs6986132)的分布及其与血脂的关系。

方法

采用实时荧光定量PCR(TaqMan)法对新疆地区随机选取的362名维吾尔族和653名汉族健康个体进行ADRβ3基因分型检测。

结果

1)rs2298423位点TT、GT和GG基因型频率在维吾尔族中分别为76.5%、22.1%和1.4%,在汉族中分别为74.7%、23.3%和2.0%。两民族间基因型分布差异无统计学意义(P = 0.695)。2)rs6986132位点GG、AG和AA基因型频率在维吾尔族中分别为81.5%、16.6%和1.9%,在汉族中分别为59.6%、33.7%和6.7%。两民族间基因型分布差异有统计学意义(P < 0.001)。3)维吾尔族个体中,rs2298423位点GG或GT基因型携带者的总胆固醇和低密度脂蛋白胆固醇水平显著高于TT基因型携带者(P < (此处原文有误)0.01),而汉族人群无此差异。两民族rs6986132基因型分布的血脂水平(包括总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)、甘油三酯和高密度脂蛋白胆固醇)差异无统计学意义(P > 0.05)。经性别、年龄、身高、体重、腰围、尿素氮、肌酐、血糖、甘油三酯、吸烟、饮酒等因素校正后,logistic回归分析结果显示,维吾尔族人群中携带rs2298423位点GG或GT基因型者总胆固醇和低密度脂蛋白胆固醇水平升高的风险高于携带TT基因型者(总胆固醇水平:OR = 3.140,95%CI:1.270 - 7.764,P = 0.013;低密度脂蛋白胆固醇水平:OR = 3.818,95%CI:1.761 - 8.280,P = 0.001)。4)T - G单倍型在维吾尔族中出现频率较高,而T - A单倍型在汉族人群中更为常见(均P < 0.001)。

结论

新疆汉族和维吾尔族人群ADRβ3基因rs2298423和rs6986132位点标签单核苷酸多态性的突变频率存在明显差异。新疆维吾尔族人群中rs2298423位点G等位基因携带者总胆固醇和低密度脂蛋白胆固醇水平升高的风险似乎增加。

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