巴西南部女孩的维生素 D 缺乏：一项关于患病率及与维生素 D 受体基因变异体关联的横断面研究。
Vitamin D deficiency in girls from South Brazil: a cross-sectional study on prevalence and association with vitamin D receptor gene variants.
机构信息
Gynecologic Endocrinology Unit, Division of Endocrinology, Hospital de Clínicas de Porto Alegre (HCPA), and Laboratory of Molecular Endocrinology, Department of Physiology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.
出版信息
BMC Pediatr. 2012 Jun 8;12:62. doi: 10.1186/1471-2431-12-62.
BACKGROUND
Vitamin D deficiency has been associated with a multitude of disorders including diabetes, defective insulin secretion as well as rickets and poor bone health. Vitamin D is also a concern during childhood and adolescence and has been reported in girls from South Brazil. We determined the prevalence of vitamin D deficiency in girls from South Brazil and investigated whether the genotypic distribution of the BsmI, ApaI and TaqI polymorphisms of the VDR gene and their haplotypes were associated with vitamin D levels.
METHODS
Cross-sectional study including 234 apparently healthy girls aged 7 to 18 years. Height and weight were measured for calculation of body mass index (BMI) percentiles for age. Plasma levels of 25-hydroxyvitamin D [25(OH)D] were assessed. Participants were genotyped for ApaI (rs7975232), TaqI (rs731236), and BsmI (rs1544410) SNPs.
RESULTS
The median and interquartile range (25-75%) of BMI percentile was 62.0 (33.3 - 84.9). The frequency of overweight/obesity was 24.9%. Circulating levels of 25(OH)D (≥ 30 ng/mL) were adequate in 9.4%; insufficient in 54.3% (20-29 ng/mL); and deficient in 36.3% (< 20 ng/mL). Genotype frequencies were GG = 47.0%, GA = 41.5%, and AA = 11.5% for BsmI; GG = 16.7%, GT = 52.6%, and TT = 30.8% for ApaI; TT = 46.2%, TC = 44.9% and CC = 9.0% for TaqI. Genotypes with no gene variance (ancestral wild genotype) of BsmI (GG vs. GA + AA, two-tailed Student's t-test p < 0.001), ApaI (GG vs. GT + TT, two-tailed Student's t-test p = 0.031) and TaqI (TT vs. TC + CC, two-tailed Student's t-test p = 0.005) SNPs and the GGT haplotype (two-tailed Student's t-test p = 0.036) were significantly associated with lower 25(OH)D levels.
CONCLUSIONS
25-hydroxyvitamin D deficiency and insufficiency were highly prevalent in this sample. The BsmI, ApaI and TaqI wild variants of the VDR gene, as well as the GGT haplotype, were associated with lower vitamin D levels, suggesting that VDR gene polymorphisms could be linked to higher susceptibility to vitamin D deficiency in a sub-population of children and adolescents.
背景
维生素 D 缺乏与多种疾病有关，包括糖尿病、胰岛素分泌缺陷以及佝偻病和骨骼健康不良。维生素 D 在儿童和青少年时期也是一个关注点，在巴西南部的女孩中已有报道。我们确定了巴西南部女孩中维生素 D 缺乏的流行率，并研究了维生素 D 水平是否与 VDR 基因的 BsmI、ApaI 和 TaqI 多态性及其单倍型的基因型分布有关。
方法
横断面研究纳入了 234 名年龄在 7 至 18 岁之间的明显健康女孩。测量身高和体重以计算年龄的体重指数（BMI）百分位数。评估血浆 25-羟维生素 D [25(OH)D] 水平。对 ApaI(rs7975232)、TaqI(rs731236)和 BsmI(rs1544410)SNP 进行基因分型。
结果
BMI 百分位数的中位数和四分位距（25-75%）为 62.0（33.3-84.9）。超重/肥胖的频率为 24.9%。25(OH)D（≥30ng/mL）的循环水平充足率为 9.4%；不足率为 54.3%（20-29ng/mL）；缺乏率为 36.3%（<20ng/mL）。BsmI 的基因型频率为 GG=47.0%、GA=41.5%和 AA=11.5%；ApaI 的基因型频率为 GG=16.7%、GT=52.6%和 TT=30.8%；TaqI 的基因型频率为 TT=46.2%、TC=44.9%和 CC=9.0%。BsmI（GG 与 GA+AA，双尾学生 t 检验 p<0.001）、ApaI（GG 与 GT+TT，双尾学生 t 检验 p=0.031）和 TaqI（TT 与 TC+CC，双尾学生 t 检验 p=0.005）SNP 以及 GGT 单倍型（双尾学生 t 检验 p=0.036）中无基因变异（祖先野生基因型）的基因型与较低的 25(OH)D 水平显著相关。
结论
在本样本中，25-羟维生素 D 缺乏和不足的发生率很高。VDR 基因的 BsmI、ApaI 和 TaqI 野生变体以及 GGT 单倍型与较低的维生素 D 水平相关，这表明 VDR 基因多态性可能与儿童和青少年亚群中维生素 D 缺乏的更高易感性有关。
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