Gynecologic Endocrinology Unit, Division of Endocrinology, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Horm Res Paediatr. 2013;79:162-8. doi: 10.1159/000348847. Epub 2013 Mar 20.
BACKGROUND/AIMS: Vitamin D deficiency has been recognized as a worldwide epidemic affecting several pediatric and adolescent populations. We determined the genotype and haplotype distribution of the rs4588 and rs7041 polymorphisms of the GC gene encoding vitamin D-binding protein (DBP) and investigated the associations between these gene variants and their haplotypes with 25-hydroxyvitamin D [25(OH)D] levels in girls from South Brazil.
Cross-sectional study including 198 apparently healthy girls aged 10-18 years. Plasma levels of 25(OH)D were assessed by radioimmunoassay. Participants were genotyped for rs4588 and rs7041 by real-time PCR, with allelic discrimination assays.
Mean chronological age and BMI percentile were 13.17 ± 1.74 years and 57.81 ± 29.03, respectively. Sufficient circulating 25(OH)D levels (≥30 ng/ml) were found in 9.1% of the overall group, insufficient levels (20-29.9 ng/ml) in 59.6%, and deficient levels (<20 ng/ml) in 31.3%. The AA genotype of rs4588, TT genotype of rs7041 and CT-AT/AT-AT (GC 1f-2/2-2) diplotypes were significantly associated with lower 25(OH)D levels, even after adjustment for age and season at the time of blood collection.
The GC gene genotype may be related to the susceptibility to low 25(OH)D levels in female children and adolescents.
背景/目的：维生素 D 缺乏已被认为是一种全球性的流行疾病，影响着多个儿科和青少年人群。我们确定了编码维生素 D 结合蛋白（DBP）的 GC 基因的 rs4588 和 rs7041 多态性的基因型和单倍型分布，并研究了这些基因变异及其单倍型与来自巴西南部的女孩的 25-羟维生素 D [25(OH)D]水平之间的关联。
这是一项横断面研究，纳入了 198 名年龄在 10-18 岁的看似健康的女孩。通过放射免疫法评估血浆 25(OH)D 水平。通过实时 PCR 对 rs4588 和 rs7041 进行基因分型，并进行等位基因鉴别检测。
平均年龄和 BMI 百分位数分别为 13.17 ± 1.74 岁和 57.81 ± 29.03。整个组中，9.1%的人有足够的循环 25(OH)D 水平（≥30ng/ml），59.6%的人有不足水平（20-29.9ng/ml），31.3%的人有缺乏水平（<20ng/ml）。rs4588 的 AA 基因型、rs7041 的 TT 基因型和 CT-AT/AT-AT（GC 1f-2/2-2）二倍型与较低的 25(OH)D 水平显著相关，即使在调整了采血时的年龄和季节后也是如此。
GC 基因的基因型可能与女性儿童和青少年低 25(OH)D 水平的易感性有关。
