CAJ | 학술논문

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.
목적 탐토β3신상선소능수체(ADRβ3)기인표첨단핵감산다태성(tagSNP)rs2298423화rs6986132재신강유오이(유)족화한족건강인군중적분포특정급기여혈지적관계.방법 채용수궤추양방법선취신강지구유족(n=362)화한족(n=653)건강체검자,채용실시형광정량PCR (TaqMan)방법진행기인분형.결과 (1)rs2298423삼충기인형재유족인군중적분포빈솔분별위TT형76.5％、GT형22.1％、GG형1.4％,한족인군분별위TT형74.7％、GT형23.3％、GG형2.0％,량조기인형분포적차이무통계학의의(P=0.695).(2)rs6986132삼충기인형재유족인군중적분포빈솔분별위GG형81.5％、AG형16.6％、AA형1.9％,한족인군분별위GG형59.6％、AG형33.7％、AA형6.7％,량조기인형분포적차이유통계학의의(P＜0.001).(3)유족인군rs2298423기인형아조간적TC、LDL-C수평적차이유통계학의의(P＜0.01),휴대GG혹GT기인형자교TT기인형유경고적TC、LDL-C수평(P＜0.01),이한족인군칙무차이.량족인군rs6986132기인형아조간TC、LDL-C、TG、HDL-C수평적차이무통계학의의(P＞0.05).통과비조건logistic회귀조정성별、년령、신고、체중、요위、뇨소담、SCr、FPG、TG、흡연사、음주사혼잡인소후,유족인군GG혹GT기인형휴대자교TT기인형휴대자환고담고순혈증적풍험증고(OR=3.140,95％CI:1.270～ 7.764,P=0.013),LDL-C수평승고적풍험증고(OR=3.818,95％ CI:1.761～8.280,P=0.001).(4)rs2298423화rs6986132공구건3개단배형,기중유족인군T-G단배형적분포명현고우한족(P＜0.001),한족인군T-A단배형적분포명현고우유족(P＜0.001).결론 신강유、한족인군간ADRβ3기인표첨SNP적분포빈솔유차이,유족인군rs2298423다태성여혈청TC、LDL-C수평유관,G등위기인가능시해량지표수평승고적위험인소.
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.