Abstract
BackgroundThe deficiency of vitamin D receptor (VDR) or its ligand, vitamin D3, is linked to the development of renal diseases. The TaqI (rs731236) and ApaI (rs7975232) polymorphisms of VDR gene are widely studied for their association with renal disease risk. However, studies have largely been ambiguous.MethodsMeta-analysis was carried out to clarify the association of TaqI (2777 cases and 3522 controls) and ApaI (2440 cases and 3279 controls) polymorphisms with nephrolithiasis (NL), diabetic nephropathy (DN) and end stage renal disease (ESRD).ResultsThe VDR TaqI C-allele under allele contrast was significantly associated with ESRD in both fixed effect and random effect models, and ApaI C-allele with ESRD only under fixed effect model. Cochrane Q-test showed no evidence of heterogeneity for TaqI polymorphism and a significant heterogeneity for Apa I polymorphism. No publication bias was observed for both the polymorphisms.ConclusionsThe present meta-analysis identifies TaqI and ApaI polymorphisms of VDR gene as risk factors for renal diseases.
Highlights
In human skin, solar rays facilitate the formation of vitamin D3 from 7-dehydrocholesterol
The vitamin D receptor (VDR) TaqI C-allele, under allele contrast fixed effect model, was associated with renal diseases calculated collectively for diabetic nephropathy (DN), end stage renal disease (ESRD) and NL (OR: 1.11, 95% CI: 1.03–1.20, p = 0.008). (Figure 2) As shown Table 2, subtype analysis revealed Taql C- allele to be associated with ESRD (OR: 1.17, 95% CI: 1.02– 1.34, p = 0.03) (Fig. 2)
Higher vitamin D levels were found in populations living in regions known to have longer durations of sun exposure [33]. This meta-analysis revealed the association of VDR TaqI and ApaI polymorphisms with ESRD risk
Summary
Solar rays facilitate the formation of vitamin D3 from 7-dehydrocholesterol. Vitamin D receptor (VDR) is a ligand-activated transcriptional factor requiring 1,25(OH)2D for its activation [2]. The deficiency of 25OHD or VDR is reported to activate renin-angiotensin system resulting in high angiotensin II levels, which damage renal parenchyma leading to. The rs7975232 (NG_008731.1:g.64978G > T) is an intronic variant predicted to influence splice site changes that might affect the translation of VDR. The frequency of this variant is high as evidenced by 734 and 16,751 homozygous mutants in 1000G and ExAC databases. The deficiency of vitamin D receptor (VDR) or its ligand, vitamin D3, is linked to the development of renal diseases.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
