中国育龄女性GC基因rs7041多态性与血清维生素D水平的关联

Relationship between rs7041 polymorphism of GC gene and serum vitamin D status in Chinese women of childbearing age

目的探究中国18~44岁育龄女性维生素D结合蛋白编码基因GC rs7041位点与血清维生素D水平的关联。方法从2015年中国成人慢性病与营养监测生物样本库中分层随机选取涵盖31个省的18~44岁1812名育龄女性的血液样本,采用酶联免疫法测定血清25-羟基维生素D[25(OH)D]含量,多重高温连接酶检测反应技术进行GC基因分型。结果共纳入1812名育龄女性,所有样本rs7041基因型频率分布符合Hardy-Weinberg平衡定律。血清25(OH)D水平[M(P25,P75)]为16.69(12.04,21.69)ng/mL。在总体样本及南方地区,维生素D正常人群中CC基因型携带者的25(OH)D水平显著高于AA基因型(P<0.05)。校正可能的相关影响因素前后,携带CC基因型个体发生维生素D不足的风险均明显低于AA基因型个体(OR=0.571,95%CI 0.373~0.873))。亚组分析结果显示,无论处于南方或北方,该基因型携带者维生素D缺乏的风险均较低[南北方校正后的OR值分别为0.284(95%CI 0.144~0.560)和0.109(95%CI 0.015~0.798)]。结论 GC rs7041位点A/C多态性与中国育龄女性血清25(OH)D水平显著相关,纯合突变型CC可能为维生素D缺乏或不足风险的保护因素。

OBJECTIVE To investigate the association of rs7041 polymorphism of GC gene that encodes the vitamin D-binding protein with serum vitamin D status in Chinese women of childbearing age. METHODS A total of 1812 plasma samples of women childbearing aged 18-44 years old were selected by stratified random sampling technology from the established biological samples bank of Chinese Chronic Diseases and Nutrition Survey(CCDNS, 2015-2018). The serum 25(OH)D status was detected by enzyme-linked immunosorbent assay. The genotypes of rs7041 in the GC gene were analyzed by improved multiple ligase detection reaction method. RESULTS A total of 1812 childbearing women aged 18-49 years were included in this study. The frequency of rs7041 genotypes in the study were distributed according to the Hardy-Weinberg equilibrium, indicating sufficient representativeness of our sample. The median serum 25(OH)D status was 16.69(12.04,21.69)ng/mL. The higher 25(OH)D levels was detected in the overall sample, southern women or women with normal vitamin D status with the CC genotype than the AA genotype(P<0.05). Before and after correction, the risk of vitamin D insufficiency in the women carrying the CC genotype was decreased significantly compared with the women carrying the AA genotype(OR=0.571, 95%CI 0.373-0.873). And the CC genotype of rs7041 was associated with a significant decrease in risk of 25(OH)D deficiency(in the subgroup of southern childbearing women, OR=0.284,95%CI 0.144-0.560 and in the subgroup of northern childbearing women, OR=0.109,95%CI 0.015-0.798). CONCLUSION The GC rs7041 with A/C polymorphism are significantly correlated with 25(OH)D status in Chinese childbearing women, mutant CC genotype is a protective factor for vitamin D non-normal status risks.