宁夏回族人群雌激素受体基因多态性及与血脂的关联性

Association between estrogen receptor gene polymorphism and lipid metabolism in the Ningxia Hui population

目的研究雌激素受体(ERα)基因单核苷酸多态性(SNPs,rs2234693、rs9340799)在宁夏回族人群中的分布及其与血脂的关联性。方法以整群抽样的方法选取宁夏银川市社区的回族人群533例,利用基质辅助激光解吸附电离飞行时间质谱分析技术(MassARRAY system)对样本进行基因分型,观察533例回族人群的基因型,同时检测血脂并探讨两者的关系。结果 1rs2234693中各基因型在宁夏回族人群中与其在中国汉族、云南傣族和美国、欧洲、日本的人群中的分布频率无统计学差异(P>0.05);rs9340799中各基因型在宁夏回族人群中出现的频率与在欧洲人群中的频率存在着统计学差异(P<0.05),与中国汉族、云南傣族及日本人群均无统计学差异(P>0.05)。2血脂正常组和血脂异常组一般情况比较显示两组间体质量指数存在明显差异(P<0.01)。3rs9340799中GG基因型的个体发生血脂异常的风险增加(OR=2.97,P<0.05)。在校正体质量指数后发生血脂异常的风险并没有明显变化(OR=2.76,P<0.05)。4rs2234693-rs9340799构成的单体型中C-G在脂代谢异常组的频率略大于脂代谢正常组,但无统计学差异(P>0.05)。结论 ERα基因多态性的分布存在着种族的差异;宁夏回族人群中rs2234693的SNPs与血脂异常的发生可能无相关性,而rs9340799中携带有GG基因型的个体发生血脂异常的风险明显增加。

Objective To study the distribution of rs2234693 and rs9340799 of estrogen receptor （ER） gene and the relationship between them and lipid metabolism in the Ningxia Hui group, China. Methods We used cluster sampling method to select 533 cases of Ningxia Yinchuan communities of Hui. SNP genotyping was performed using the Sequenom MassARRAY platform. Results （i） The frequencies of the distribution of each genotype of rs2234693 in Ningxia Hui population were the same as those in Chinese Han and Dai, Americans, Europeans, and Japanese （P〉0.05）. The distribution of each genotype of rs9340799, especially AA genotype, was different from that in Europeans （P 〈 0. 05）. The body mass index in dyslipidemia group was significantly different from that in the control group （P〈0.01）. @ The risk of dyslipidemia in subjects with GG genotype of rs9340799 was 2. 97 times higher than that in subjects with other genotypes （OR = 2. 97, P〈 2. 97）. After adjustment of gender, age, and body mass index （BMI）, estrogen level was also 2.76 times higher （OR = 2.76, P〈 0.05）. （4） The frequency of C-G in rs2234693-rs9340799 haplotype was greater than that in the control group, but without any significant difference （P〉0.05）. Conclusion ER genes distribution in the Hui nationality of Ningxia is significantly different from that in other races; rs2234693 has no obvious relationship with the occurrence of dyslipidemia while GG genotype in SNP rs9340799 significantly increases the risk of lipid metabolism disorders.