文章摘要
张金宇,李晓梅,杨毅宁,马依彤,谢翔,向阳,刘芬,陈邦党,潘硕,董星辉.新疆维吾尔族、汉族健康人群β3肾上腺素能受体基因多态性分布特征及其与血脂关系的研究[J].中华流行病学杂志,2015,36(6):653-657
新疆维吾尔族、汉族健康人群β3肾上腺素能受体基因多态性分布特征及其与血脂关系的研究
Distribution of β3-adrenergic receptors gene polymorphisms and its association with serum lipid in Han and Uighur populations in Xinjiang
收稿日期:2014-11-09  出版日期:2015-06-09
DOI:10.3760/cma.j.issn.0254-6450.2015.06.025
中文关键词: β3肾上腺素能受体;标签单核苷酸多态;遗传多态性;维吾尔族;汉族
英文关键词: β3-adrenergic receptor;Tagging single nucleotide polymorphism;Genetic polymorphism;Uighur population;Han population
基金项目:新疆维吾尔自治区高技术研究发展项目(201417102)
作者单位E-mail
张金宇 830054 乌鲁木齐, 新疆医科大学第一附属医院心脏中心  
李晓梅 830054 乌鲁木齐, 新疆医科大学第一附属医院心脏中心  
杨毅宁 830054 乌鲁木齐, 新疆医科大学第一附属医院心脏中心 yangyn5126@163.com 
马依彤 830054 乌鲁木齐, 新疆医科大学第一附属医院心脏中心  
谢翔 830054 乌鲁木齐, 新疆医科大学第一附属医院心脏中心  
向阳 830054 乌鲁木齐, 新疆医科大学第一附属医院心脏中心  
刘芬 830054 乌鲁木齐, 心血管病重点实验室  
陈邦党 830054 乌鲁木齐, 心血管病重点实验室  
潘硕 830054 乌鲁木齐, 新疆医科大学第一附属医院心脏中心  
董星辉 830054 乌鲁木齐, 新疆医科大学第一附属医院心脏中心  
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中文摘要:
      目的 探讨β3肾上腺素能受体(ADRβ3)基因标签单核苷酸多态性(tagSNP)rs2298423和rs6986132在新疆维吾尔(维)族和汉族健康人群中的分布特征及其与血脂的关系.方法 采用随机抽样方法选取新疆地区维族(n=362)和汉族(n=653)健康体检者,采用实时荧光定量PCR(TaqMan)方法进行基因分型.结果 (1)rs2298423三种基因型在维族人群中的分布频率分别为TT型76.5%、GT型22.1%、GG型1.4%,汉族人群分别为TT型74.7%、GT型23.3%、GG型2.0%,两组基因型分布的差异无统计学意义(P=0.695).(2)rs6986132三种基因型在维族人群中的分布频率分别为GG型81.5%、AG型16.6%、AA型1.9%,汉族人群分别为GG型59.6%、AG型33.7%、AA型6.7%,两组基因型分布的差异有统计学意义(P< 0.001).(3)维族人群rs2298423基因型亚组间的TC、LDL-C水平的差异有统计学意义(P< 0.01),携带GG或GT基因型者较TT基因型有更高的TC、LDL-C水平(P< 0.01),而汉族人群则无差异.两族人群rs6986132基因型亚组间TC、LDL-C、TG、HDL-C水平的差异无统计学意义(P> 0.05).通过非条件logistic回归调整性别、年龄、身高、体重、腰围、尿素氮、SCr、FPG、TG、吸烟史、饮酒史混杂因素后,维族人群GG或GT基因型携带者较TT基因型携带者患高胆固醇血症的风险增高(OR=3.140,95%CI:1.270~7.764,P=0.013),LDL-C水平升高的风险增高(OR=3.818,95%CI:1.761~8.280,P=0.001).(4)rs2298423和rs6986132共构建3个单倍型,其中维族人群T-G单倍型的分布明显高于汉族(P< 0.001),汉族人群T-A单倍型的分布明显高于维族(P< 0.001).结论 新疆维、汉族人群间ADRβ3基因标签SNP的分布频率有差异,维族人群rs2298423多态性与血清TC、LDL-C水平有关,G等位基因可能是该两指标水平升高的危险因素.
英文摘要:
      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 ADRβ3 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 ADRβ3 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.
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