APOA5基因变异对维吾尔族人群血浆甘油三酯水平的影响。
Influences of APOA5 variants on plasma triglyceride levels in Uyghur population.
作者信息
Li Shuyuan, Hu Bin, Wang Yi, Wu Di, Jin Li, Wang Xiaofeng
机构信息
Ministry of Education Key Laboratory of Contemporary Anthropology and State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China; Fudan-Taizhou Institute of Health Sciences, Taizhou, Jiangsu, China.
Ministry of Education Key Laboratory of Contemporary Anthropology and State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China.
出版信息
PLoS One. 2014 Oct 14;9(10):e110258. doi: 10.1371/journal.pone.0110258. eCollection 2014.
OBJECTIVE
Single nucleotide polymorphisms (SNPs) in apolipoprotein A5 (APOA5) gene are associated with triglyceride (TG) levels. However, the minor allele frequencies and linkage disequilibriums (LDs) of the SNPs in addition to their effects on TG levels vary greatly between Caucasians and East Asians. The distributions of the SNPs/haplotypes and their associations with TG levels in Uyghur population, an admixture population of Caucasians and East Asians, have not been reported to date. Here, we performed a cross-sectional study to address these.
METHODS
Genotyping of four SNPs in APOA5 (rs662799, rs3135506, rs2075291, and rs2266788) was performed in 1174 unrelated Uyghur subjects. SNP/haplotype and TG association analyses were conducted.
RESULTS
The frequencies of the SNPs in Uyghurs were in between those in Caucasians and East Asians. The LD between rs662799 and rs2266788 in Uyghurs was stronger than that in East Asians but weaker than that in Caucasians, and the four SNPs resulted in four haplotypes (TGGT, CGGC, TCGT, and CGTT arranged in the order of rs662799, rs3135506, rs2075291, and rs2266788) representing 99.2% of the population. All the four SNPs were significantly associated with TG levels. Compared with non-carriers, carriers of rs662799-C, rs3135506-C, rs2075291-T, and rs2266788-C alleles had 16.0%, 15.1%, 17.1%, and 12.4% higher TG levels, respectively. When haplotype TGGT was defined as the reference, the haplotypes CGGC, TCGT, and CGTT resulted in 16.1%, 19.0%, and 19.8% higher TG levels, respectively. The proportions of variance in TG explained by APOA5 locus were 2.5%, 0.3%, 0.4%, and 1.9% for single SNP rs662799, rs3135506, rs2075291, and rs2266788, respectively, and 3.0% for the haplotypes constructed by them.
CONCLUSIONS
The association profiles between the SNPs and haplotypes at APOA5 locus and TG levels in this admixture population differed from those in Caucasians and East Asians. The functions of these SNPs and haplotypes need to be elucidated comprehensively.
目的
载脂蛋白A5（APOA5）基因中的单核苷酸多态性（SNP）与甘油三酯（TG）水平相关。然而，SNP的次要等位基因频率和连锁不平衡（LD），以及它们对TG水平的影响在白种人和东亚人之间差异很大。维吾尔族人群是白种人和东亚人的混合群体，目前尚未报道该人群中SNP/单倍型的分布及其与TG水平的关联。在此，我们进行了一项横断面研究以解决这些问题。
方法
对1174名无亲缘关系的维吾尔族受试者进行APOA5基因中4个SNP（rs662799、rs3135506、rs2075291和rs2266788）的基因分型。进行SNP/单倍型与TG的关联分析。
结果
维吾尔族中SNP的频率介于白种人和东亚人之间。维吾尔族中rs662799与rs2266788之间的LD比东亚人更强，但比白种人弱，这4个SNP产生了4种单倍型（TGGT、CGGC、TCGT和CGTT，按rs662799、rs3135506、rs2075291和rs2266788的顺序排列），占人群的99.2%。所有4个SNP均与TG水平显著相关。与非携带者相比，rs662799-C、rs3135506-C、rs2075291-T和rs2266788-C等位基因的携带者TG水平分别高16.0%、15.1%、17.1%和12.4%。当将单倍型TGGT定义为参照时，单倍型CGGC、TCGT和CGTT分别使TG水平升高16.1%、19.0%和19.8%。对于单个SNP rs662799、rs3135506、rs2075291和rs2266788，APOA5基因座解释的TG变异比例分别为2.5%、0.3%、0.4%和1.9%，由它们构建的单倍型解释的TG变异比例为3.0%。
结论
在这个混合人群中，APOA5基因座的SNP和单倍型与TG水平之间的关联模式不同于白种人和东亚人。需要全面阐明这些SNP和单倍型的功能。
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