Serum 25(OH)D and vitamin D status in relation to <i>VDR</i>, <i>GC</i> and <i>CYP2R1</i> variants in Chinese

Abstract

Vitamin D status, measured by 25-hydroxyvitamin D [25(OH)D], is important for musculoskeletal and non-musculoskeletal health. Vitamin D deficiency has been related to rickets, diabetes mellitus, metabolic syndrome, hypertension, cardiovascular disease, and cancer [1][2][3][4][5][6]. Sun exposure, dietary and supplementary vitamin D intake, race, age, sex, obesity, skin color, and tea intake have been previously reported to be associated with circulating levels of 25(OH)D [7][8][9][10] Chinese. Nine common variants of VDR, GC and CYP2R1 were genotyped using multiple SNaPshot assay, and serum 25(OH)D was detected by radioimmunoassay. The prevalence of vitamin D deficiency (<50 nmol/L) was 38.8%, which is higher in women (46.2%) than in men (34.3%, P<0.0001). The risk alleles of three common variants of GC (rs7041, rs4588, and rs2282679) were significantly associated with a lower serum levels of 25(OH)D (-1.789 ≤β ≤-3.549, P ≤0.006), while common variants in VDR and CYP2R1 were not associated with serum levels of 25(OH)D after adjusted for covariates (P ≥0.30). None of the nine common variants were associated with the presence of vitamin D deficiency in multivariable adjusted logistic regression analyses (P ≥0.17). Haplotype-based analyses of GC-rs7041 and rs4588 showed that the haplotype Gc2-2 (rs7041 AA and rs4588 TT) had the lowest levels of 25(OH)D compared with other haplotypes that contained at least one copy of Gc1 allele (Ptrend <0.0001). Our results suggest that the common variants of GC are genetic determinants of serum 25(OH)D in Chinese.

GC Gene Polymorphisms and Vitamin D-Binding Protein Levels Are Related to the Risk of Generalized Aggressive Periodontitis

“…There is one study carried out in Chinese population. Li et al recruited 1,443 unrelated employees and retired workers from a factory in Dali (25°N), Yunnan Province, China [39]. After LD analysis of rs4588 and rs7041, the disequilibrium coefficient ( r 2 = 0.16) was really close to our result.…”

“…To our best knowledge, there are no correlative literatures about genetic linkage of these two sites. However, GC rs4588 and rs7041 are reported to be linked together in several studies [39–43]. Genetic distribution and transmission vary from race to race.…”

Vitamin D deficiency in patients with intestinal malabsorption syndromes – think in and outside the gut

“…While it has been suggested that the polymorphisms of GC (also known as VDBP ), CYP2R1 and DHCR7/NADSYN1 genes might contribute to interpersonal variability in the serum 25(OH)D levels of Chinese, it is also suggested that only a few common variants of the GC gene are genetic determinants of low serum levels of vitamin D in Chinese . Similarly, studies of Arabs and South Asians have found a positive relationship between vitamin D insufficiency with polymorphisms in GC and CYP2R1 genes .…”

Vitamin D-Related Gene Polymorphisms, Plasma 25-Hydroxy-Vitamin D, Cigarette Smoke and Non-Small Cell Lung Cancer (NSCLC) Risk

“…VDR , the superfamily of transacting transcriptional regulatory factors, adjusts to several gene transcriptions, including cell apoptosis, pro-oncogenes, immunomodulation, differentiation, and tumor-suppressor genes [9,10]. The vitamin D-binding protein (encoded by the group-specific component , GC gene) mainly promotes transportation of vitamin D metabolites [11].…”