Association between Vitamin D Deficiency and Single Nucleotide Polymorphisms in the Vitamin D Receptor and GC Genes and Analysis of Their Distribution in Mexican Postmenopausal Women.
Association between Vitamin D Deficiency and Single Nucleotide Polymorphisms in the Vitamin D Receptor and GC Genes and Analysis of Their Distribution in Mexican Postmenopausal Women.
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DOI：
10.3390/nu10091175
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发表时间：
2018-08-27
期刊：
影响因子：
5.9
通讯作者：
Velázquez-Cruz R
中科院分区：
文献类型：
--
作者：
Rivera-Paredez B;Macías N;Martínez-Aguilar MM;Hidalgo-Bravo A;Flores M;Quezada-Sánchez AD;Denova-Gutiérrez E;Cid M;Martínez-Hernández A;Orozco L;Quiterio M;Flores YN;Salmerón J;Velázquez-Cruz R
欧洲血统人群的全基因组关联研究表明，参与维生素D （VD）代谢的基因多态性对25-羟基维生素D的血清浓度有影响。然而，这些多态性在美洲印第安血统人群中尚不清楚。我们的目的是评估689名无关的墨西哥绝经后妇女维生素D受体（VDR）和维生素D结合蛋白（GC）基因的遗传变异与VD途径和VD缺乏之间的关系。我们还描述了来自不同种族的355名绝经后妇女中这些变异的频率。根据我们的初步结果，400名无关的墨西哥绝经后妇女，选择三个单核苷酸多态性（snp）进行基因分型。VDR中的rs4516035和GC中的rs2282679 snp与VD缺陷相关。此外，携带三个风险等位基因的女性患VD缺乏症的风险是没有风险等位基因的女性的3.67倍（p = 0.002）。rs4516035-C等位基因频率在墨西哥东南部地区的美洲印第安人群体中较为丰富。相比之下，在南方地区观察到rs2298850-C等位基因（标签SNP rs2282679的代表）的最高频率。我们的研究结果表明，VDR和GC基因的遗传变异与墨西哥绝经后妇女VD缺乏有关。此外，DHCR7/NADSYN1基因的rs3794060和rs4944957变异与骨质减少/骨质疏松症存在关联。
Genome-wide association studies in people with European ancestry suggest that polymorphisms in genes involved in vitamin D (VD) metabolism have an effect on serum concentrations of 25-hydroxyvitamin D. However, nothing is known about these polymorphisms in populations with Amerindian ancestry. Our aim was to evaluate the association between genetic variants on the vitamin D receptor (VDR) and the vitamin D binding protein (GC) genes, involved in the VD pathway, and VD deficiency in 689 unrelated Mexican postmenopausal women. We also described the frequencies of these variants in 355 postmenopausal women from different ethnic groups. Based on our preliminary results of 400 unrelated Mexican postmenopausal women, three single nucleotide polymorphisms (SNPs) were selected for genotyping. The SNPs rs4516035 in VDR and rs2282679 in GC were associated with VD deficiency. Additionally, women who carried three risk alleles had a 3.67 times higher risk of suffering VD deficiency, compared to women with no risk alleles (p = 0.002). The rs4516035-C allele frequency in the Amerindian population was enriched in the South East region of Mexico. In contrast, the highest frequency of the rs2298850-C allele, a proxy for the tag SNP rs2282679, was observed in the South region. Our results indicate that genetic variants in VDR and GC genes are associated with VD deficiency in Mexican postmenopausal women. Moreover, an association was observed for the variants rs3794060 and rs4944957 of the DHCR7/NADSYN1 gene with osteopenia/osteoporosis.
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影响因子：
2.8
作者：
Freeman, James;Wilson, Kimberly;Sibley, Paul
通讯作者：
Sibley, Paul
影响因子：
3.2
作者：
Flores, Amada;Flores, Mario;Villalpando, Salvador
通讯作者：
Villalpando, Salvador
影响因子：
3.5
作者：
Ahn J;Yu K;Stolzenberg-Solomon R;Simon KC;McCullough ML;Gallicchio L;Jacobs EJ;Ascherio A;Helzlsouer K;Jacobs KB;Li Q;Weinstein SJ;Purdue M;Virtamo J;Horst R;Wheeler W;Chanock S;Hunter DJ;Hayes RB;Kraft P;Albanes D
通讯作者：
Albanes D
影响因子：
5.8
作者：
Barry, Elizabeth L.;Rees, Judy R.;Baron, John A.
通讯作者：
Baron, John A.
影响因子：
4.5
作者：
Forrest, Kimberly Y. Z.;Stuhldreher, Wendy L.
通讯作者：
Stuhldreher, Wendy L.