Kwak So-Young, Yongjoo Park Clara, Jo Garam, Yoen Kim Oh, Shin Min-Jeong
Department of Public Health Sciences, BK21PLUS Program in Embodiment: Health-Society Interaction, Graduate School, Korea University, Seoul 02841, Republic of Korea.
Department of Food and Nutrition, Human Ecology Research Institute, Chonnam National University, Gwangju 61186, Republic of Korea.
Endocr J. 2018 Sep 27;65(9):881-891. doi: 10.1507/endocrj.EJ18-0084. Epub 2018 Jun 22.
Vitamin D deficiency affects >60% of the Korean population. Recent reports in Caucasian, African American, and Chinese populations indicate an association between vitamin D status and related single nucleotide polymorphisms (SNPs), but specific associations differ among study populations. We investigated the relationship between five SNPs involved in the vitamin D metabolic pathway (DHCR7 rs12785878, GC rs2282679, CYP2R1 rs12794714, CYP2R1 rs10741657, and CYP24A1 rs6013897) and serum 25-hydroxyvitamin D [25(OH)D] status in Koreans using the Korea National Health and Nutrition Examination Survey, a nationwide database. Whether the association was modified by demographic and lifestyle factors, including sex, body mass index (BMI), smoking status, drinking status, physical activity, and sun exposure, were also investigated. The results showed the serum level of 25(OH)D was associated with rs12785878, rs2282679, and rs12794714 genotypes, but not with rs10741657 or rs6013897. The genetic risk score (GRS) calculated by summing the number of alleles of these 5 SNPs was associated with low circulating levels of 25(OH)D. However, the negative association between 25(OH)D and GRS was modified by obesity and sun exposure. Specifically, negative associations between 25(OH)D and GRS were present in adults with lower BMI (<25 kg/m) and longer sun exposure time (≥2 h/day). In conclusion, common variants of vitamin D-related SNPs are associated with vitamin D status in Koreans, and this genetic effect was masked when BMI ≥25 kg/m or sun exposure <2 h/day. Additionally, seasonal variation must be considered in future studies among Koreans.
维生素D缺乏影响超过60%的韩国人口。最近针对白种人、非裔美国人和中国人群的报告表明维生素D状态与相关单核苷酸多态性（SNP）之间存在关联，但不同研究人群中的具体关联有所不同。我们利用韩国国家健康与营养检查调查这一全国性数据库，研究了参与维生素D代谢途径的5个SNP（DHCR7 rs12785878、GC rs2282679、CYP2R1 rs12794714、CYP2R1 rs10741657和CYP24A1 rs6013897）与韩国人血清25-羟基维生素D [25(OH)D] 状态之间的关系。我们还研究了这种关联是否会受到人口统计学和生活方式因素的影响，这些因素包括性别、体重指数（BMI）、吸烟状况、饮酒状况、身体活动和日照情况。结果显示，血清25(OH)D水平与rs12785878、rs2282679和rs12794714基因型有关，但与rs10741657或rs6013897无关。通过将这5个SNP的等位基因数量相加计算得出的遗传风险评分（GRS）与25(OH)D的低循环水平有关。然而，25(OH)D与GRS之间的负相关会受到肥胖和日照情况的影响。具体而言，在BMI较低（<25 kg/m）且日照时间较长（≥2小时/天）的成年人中，25(OH)D与GRS之间存在负相关。总之，维生素D相关SNP的常见变异与韩国人的维生素D状态有关，当BMI≥25 kg/m或日照时间<2小时/天时，这种遗传效应会被掩盖。此外，在未来针对韩国人的研究中必须考虑季节变化。
