Genetic variant in vitamin D binding protein is associated with serum 25-hydroxyvitamin D and vitamin D insufficiency in southern Chinese
Genetic variant in vitamin D binding protein is associated with serum 25-hydroxyvitamin D and vitamin D insufficiency in southern Chinese
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DOI：
10.1038/jhg.2013.84
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发表时间：
2013-11-01
影响因子：
3.5
通讯作者：
Kung, Annie W. C.
中科院分区：
文献类型：
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作者：
Cheung, Ching-Lung;Lau, Kam-Shing;Kung, Annie W. C.
先前的大规模全基因组荟萃分析确定了影响25-羟基维生素D（25（OH）D）浓度的四个位点。然而，这些基因座是否与中国南方25（OH）D浓度相关仍不清楚。我们的主要目的是检查是否可以在712名中国南方妇女中复制四个最高命中率（rs 2282679，rs 10741657，rs 12785878和rs6013897）。这些单核苷酸多态性（SNPs），血清25（OH）D浓度（连续变量）和维生素D不足（二分变量）之间的关联分别采用多变量线性回归和logistic回归进行了检查。模型中调整了年龄、体重指数和季节。在这4个SNP中，rs 2282679与血清25（OH）D水平相关（β = -0.066; P = 9 x 10（-5））和维生素D不足（OR = 1.51，95%可信区间（CI）1.19-1.93; P = 8.6 x 10（-4）），而rs 12785878名义上仅与维生素D不足相关（OR = 0.79，95%CI 0.63-0.99; P = 0.042）。基因型风险评分（GRS），通过总结这两个SNP的风险变体，与维生素D不足（OR = 1.38; 95%CI 1.17-1.64; P趋势= 1.76 x 10（-4））比仅包括任何一个SNP的模型有更显著的关联。rs 2282679和GRS的受试者工作特征曲线下面积分别为0.561（P = 0.005）和0.576（P = 5 × 10（-4））。我们的研究提供了一个独立的证据rs 2282679和可能rs 12785878与25（OH）D和维生素D不足的中国南方。
Previous large-scale genome-wide meta-analysis identified four loci affecting 25-hydroxyvitamin D (25(OH)D) concentrations. However, whether these loci are associated with 25(OH)D concentration in southern Chinese remain unknown. Our primary aim was to examine whether the four top hits (rs2282679, rs10741657, rs12785878 and rs6013897) could be replicated in 712 southern Chinese women. The associations between these single-nucleotide polymorphisms (SNPs), serum 25(OH)D concentration (continuous variable) and vitamin D insufficiency (dichotomized variable) were examined using multivariable linear regression and logistic regression, respectively. Age, body mass index and season were adjusted in the model. Among these four SNPs, rs2282679 was associated with serum 25(OH)D levels (beta = -0.066; P = 9 x 10(-5)) and vitamin D insufficiency (odds ratio (OR) = 1.51, 95% confidence interval (CI) 1.19-1.93; P = 8.6 x 10(-4)), whereas rs12785878 was nominally associated with vitamin D insufficiency only (OR = 0.79, 95% CI 0.63-0.99; P = 0.042). Genotype risk score (GRS), by summing risk variants of these two SNPs, had more significant association with vitamin D insufficiency (OR = 1.38; 95% CI 1.17-1.64; P-trend = 1.76 x 10(-4)) than the model that included only either SNP. The areas under receiver operating characteristic curves of rs2282679 and GRS were 0.561 (P = 0.005) and 0.576 (P = 5 x 10(-4)), respectively. Our study provides an independent evidence of the associations of rs2282679 and probably rs12785878 with 25(OH)D and vitamin D insufficiency in southern Chinese.