ABCG5/8基因microRNA结合位点多态性与妊娠期糖脂代谢相关

目的探讨ABCG5/8基因microRNA结合位点多态性与妊娠期血糖及血脂水平之间的关系。方法纳入2006年至2011年在北京协和医院内分泌科门诊就诊的妊娠期妇女1 925人,收集相关临床资料,取外周全血并提取基因组DNA。针对研究发现的与糖脂代谢密切相关的ABCG5/8基因,利用数据库筛选中国汉族人群最小等位基因频率大于5%的3'非翻译区microRNA结合位点。对患者进行基因分型并统计分析其与糖脂代谢相关临床变量之间的相关性。结果仅有1个位点符合筛选条件rs2278356,它分别与低密度脂蛋白胆固醇(LDL-C)及总胆固醇(TC)水平显著相关(LDL-C:b=0.104 mmol/L,95%CI 0.023~0.185 mmol/L,P0.05;TC:b=0.105 mmol/L,95%CI 0.080~0.203 mmol/L,P0.05)。结论 ABCG5/8基因3'非翻译区microRNA结合位点与中国汉族妊娠期人群LDL-C及TC水平相关,遗传机制的揭示为妊娠期血脂水平升高的个体化诊治提供依据。

Association between the SNPs in microRNA bindingsites of ABCG5/8 and metabolism of glucose and lipid during pregnancy

Objective To explore the relationship between SNPs in microRNA binding sites of ABCG5/8 and the glucolipid level during pregnancy.Methods 1 925 pregnant women were recruited at Peking Union Medical College hospital from 2006 to 2011.The clinical data were collected and the total genomic DNA was extracted from whole blood samples.ABCG5/8, which was reported to be related with the glucose and lipid metabolism closely, were selected as the candidate gene and the SNPs in its microRNA binding sites with minor allele frequency >5% in Han Chinese in Beijing were chosen.Then the genotyping was performed and analyzed.Results There was only one SNP matching the criteria, rs2278356, and it is significantly associated with LDL-C and TC level during pregnancy (LDL-C: b=0.104 mmol/L, 95% CI 0.023-0.185 mmol/L, P<0.05;TC: b=0.105 mmol/L, 95% CI 0.080-0.203 mmol/L, P<0.05).Conclusions The association of rs2278356 in 3′UTR of ABCG5/8 with LDL-C and TC level in pregnant Chinese Han women is found, which may provide an individualized treatment strategy for pregnant women with high cholesterol.