摘要
目的旨在讨论维生素D结合蛋白(VDBP)基因多态性(SNPs)及血清维生素D(VitD)水平与多囊卵巢综合征(PCOS)代谢紊乱的关系。方法从2019年1月1日至2022年12月31日在陕西省西安市共招募644例PCOS女性作为研究对象,另外纳入同地区年龄和种族相匹配的450例排卵周期正常的育龄期女性作为对照。确定VDBP基因多态性的基因型分布频率,并研究这些遗传变异与PCOS、代谢综合征(MetS)易感性以及血清25(OH)D_(3)水平之间的关联。结果PCOS组血清25(OH)D_(3)水平普遍低于对照组(P<0.001)。根据AACE临床实践指南,89例(13.82%)PCOS患者存在VitD缺乏,95例(14.75%)PCOS患者VitD不足。在PCOS组中,有98例(15.22%)患有MetS。与非MetS亚组相比,MetS亚组PCOS患者血清25(OH)D_(3)水平更低(P=0.006),调整混杂因素后,VitD缺乏仍是PCOS患者MetS易感性的独立风险因素(OR=1.913;95%CI:1.109~3.300,P=0.020)。PCOS组和对照组所有4个SNPs均服从Hardy-Weinberg平衡,其中rs4588和rs2282679的基因型分布在非MetS组和MetS组之间有显著差异(P=0.010、0.022),MetS组rs4588的CA+AA基因型频率和rs2282679的AC+CC基因型频率显著低于非MetS组(P<0.05)。条件Logistic回归模型表明,在校正混杂因素后,rs4588和rs2282679 SNPs与MetS风险仍然相关(P<0.05)。此外,rs2282679的3种基因型血清25(OH)D_(3)水平存在显著差异(P<0.001)。经条件Logistic回归分析,调整混杂因素后,只有rs2282679的AC基因型携带者是导致PCOS患者VitD缺乏的独立危险因素(OR=2.492,95%CI:1.562~3.977,P<0.001)。结论VDBP rs4588的CA+AA基因型和rs2282679的AC+CC基因型与PCOS女性MetS易感性有关,同时患有MetS的PCOS女性血清25(OH)D_(3)水平普遍较低;此外rs2282679的AC基因型也是VitD_(3)缺乏的独立预测因子。这可能表明PCOS女性的代谢紊乱与VitD水平低之间存在遗传联系。
Objective To investigate the relationship between vitamin D binding protein(VDBP)gene polymorphisms(SNPs)and serum vitamin D(Vit D)levels and metabolic disorders in polycystic ovary syndrome(PCOS).Methods From January 1,2019 to December 31,2022,a total of 644 women with PCOS were recruited in Xi'an,Shannxi as research subjects,and 450 women of reproductive age who matched their age and ethnicity in the same region with normal ovulation cycles were included as controls.The genotypic distribution frequency of VDBP gene polymorphisms was determined,and the association between these genetic variations and PCOS,susceptibility to metabolic syndrome(Met S),and serum 25(OH)D_(3)levels was studied.Results The serum 25(OH)D_(3)level in the PCOS group was generally lower than that in the control group(P<0.001).According to AACE clinical practice guidelines,89(13.82%)PCOS patients had Vit D deficiency,and 95(14.75%)PCOS patients had Vit D deficiency.In the PCOS group,98 patients(15.22%)had Met S.Compared with the non Met S subgroup,the Met S subgroup had lower serum 25(OH)D_(3)levels in PCOS patients(P=0.006).After adjusting for confounding factors,Vit D deficiency remained an independent risk factor for Met S susceptibility in PCOS patients(OR=1.913;95%CI:1.109-3.300,P=0.020).All four SNPs in the PCOS group and the control group obeyed a Hardy-Weinberg equilibrium,with significant differences in the genotype distribution of rs4588 and rs2282679 between the non Met S group and the Met S group(P=0.010,0.022).The frequency of the CA+AA genotype of rs4588 and the AC+CC genotype of rs2282679 in the Met S group were significantly lower than those in the non Met S group(P<0.05).Conditional Logistic regression models showed that rs4588 and rs2282679 SNPs were still associated with Met S risk after adjusting for confounding factors(P<0.05).In addition,there were significant differences in serum 25(OH)D_(3)levels among the three genotypes of rs2282679(P<0.001).After adjusting for confounding factors,conditional Logistic regression an
作者
孟欣
李娜
曹浩哲
王聪
张宁
MENG Xin;LI Na;CAO Haozhe;WANG Cong;ZHANG Ning(Department of Clinical Laboratory,The First Affiliated Hospital of Xi'an Jiaotong University,Xi'an,Shaanxi 710061,China;Department of Gynaecology and Obstetrics,The First Affiliated Hospital of Xi'an Jiaotong University,Xi'an,Shaanxi 710061,China;Department of Reproductive Medicine,The First Affiliated Hospital of Xi'an Jiaotong University,Xi'an,Shaanxi 710061,China)
出处
《中国优生与遗传杂志》
2023年第12期2465-2471,共7页
Chinese Journal of Birth Health & Heredity
基金
陕西省重点研发计划项目(2021SF-343)。
