维生素D结合蛋白基因rs2282679 A/C多态性与维生素D缺乏的关系

Association of rs2282679 A/C polymorphism in vitamin D binding protein gene with vitamin D deficiency

本研究在1216名受检者中探讨维生素D结合蛋白基因rs2282679A/C多态性与维生素D水平及维生素D缺乏之间的关系。运用标准化问卷收集饮酒、吸烟、药物服用史等,并使用放射免疫比浊法测定血清25-羟维生素D[25（OH）D]。抽提DNA,以SNaPshot方法检测维生素D结合蛋白基因型。1216名受检者包括457名女性（37.6%）,478名受检者（39.3%）为维生素D缺乏[25（OH）D〈50nmol/L],386名受检者（31.7%）为超重/肥胖。维生素D结合蛋白CC、AC、AA三个基因型的频率分别为8.7%、41.0%和50.3%;基因型和等位基因频率分布在维生素D正常者及维生素D缺乏者之间有显著差异（P〈0.05）。在调整协变量前后,CC、AC、AA三个基因型之间25（OH）D水平的差异均有统计学意义（P〈0.01）。与整个研究人群相比,AA型维生素D缺乏的患病风险低22%（OR=0.78,95% CI0.65～0.93,P=0.006）。和CC型相比,AA型维生素D缺乏的患病风险低36%（OR=0.64,95% CI0.42～0.98,P=0.006）;AC型和CC型相比,维生素D缺乏患病风险差异无统计学意义（OR=0.87,95% CI0.57～1.34,P=0.53）。总之,维生素D结合蛋白rs2282679A/C多态性与血清25（OH）D水平和维生素D缺乏的患病风险显著相关。

To investigate the association of rs2282679 A/C polymorphism in vitamin D binding protein gene with vitamin D deficiency in 1 216 participants. A standardized questionnaire was applied to collect information on alcohol consumption, smoking habits, and use of medications. Serum 25-hydroxyvitamin D [25（OH）D] was determined by radioimmunoassay. Vitamin D binding protein genotypes were determined by SNaPshot method. 1 216 participants included 457 women（37.6%）, 478（39.3%）with vitamin D deficiency [25（OH）D〈50 nmol/L], and 386（31.7%）overweight/obese participants. The frequencies of rs2282679 CC, AC, and AA genotypes were 8.7%, 41.0%, and 50.3%, respectively. The distributions of genotypes and alleles differed significantly between participants with sufficient vitamin D and those with vitamin D deficiency（P〈0.05）. There were significant differences in the serum levels of 25（OH）D between three genotypes before and after being adjusted for covariates（P〈0.01）. AA had a 22%（OR=0.78, 95% CI 0.65-0.93, P=0.006）lowered risk of vitamin D deficiency compared with the whole studied population. Compared with CC genotype, AA had a 36% lowered risk of vitamin D deficiency（OR=0.64, 95% CI 0.42-0.98, P=0.006）, while there was no significant difference between AC and CC genotypes（OR=0.87, 95% CI 0.57-1.34, P=0.53）. In conclusion, the vitamin D binding protein rs2282679 A/C polymorphism was significantly associated with serum level of 25（OH）D and risk of vitamin D deficiency.