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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,P<0.05;TC:b=0.105 mmol/L,95%CI 0.080~0.203 mmol/L,P<0.05)。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。
Objective To investigate the relationship between the polymorphism of ABCG5 / 8 gene microRNA binding site and gestational blood glucose and blood lipid levels. Methods A total of 1,925 pregnant women were enrolled in Department of Endocrinology, Peking Union Medical College Hospital from 2006 to 2011. Relevant clinical data were collected. Peripheral blood was collected and genomic DNA was extracted. According to the ABCG5 / 8 genes closely related to glycolipid metabolism found in the study, the 3 ’untranslated region microRNA binding sites with the smallest allele frequency of more than 5% in Chinese Han population were screened by using the database. Patients were genotyped and statistically analyzed for their association with clinical variables related to glycolipid metabolism. Results Only one locus met the screening condition rs2278356, which was significantly associated with low density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) levels (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). Conclusion The microRNA binding site of 3 ’untranslated region of ABCG5 / 8 gene is associated with the levels of LDL-C and TC in Chinese Han population during pregnancy. The revelation of genetic mechanism may provide a basis for individualized diagnosis and treatment of elevated blood lipid levels during pregnancy.