Vitamin D receptor genetic variants among patients with end-stage renal disease.
BACK GROUND AND OBJECTIVES: Vitamin D receptor (VDR) gene polymorphism is reported to be associated with end-stage renal disease (ESRD). We have investigated the potential role of VDR gene polymorphisms among ESRD.


METHODS
The influence of VDR gene polymorphism in 258 ESRD patients comprising of 226 (87.5%) male and 32 (12.5%) females was investigated in this study. We compared ESRD patients with 569 healthy controls. The distribution of male and female among controls was 485 (85.3%) males and 84 (14.7%) females. This polymorphism was studied by using polymerase chain reaction (PCR). The product was digested by using restriction enzymes Apa1, Taq1, Fok1, and Bsm1.


RESULTS
We observed a significant difference in the genotype frequencies of the Apa1-aa (p = 0.0001, OR = 2.1, 95% CI = 1.45-3.08), Fok1-ff (p = 0.001, OR = 3.44, 95% CI = 1.76-6.76), and Bsm1-BB (p = 0.0004, OR = 6.8, 95% CI = 2.2-21.58). At allelic level B allele of Bsm1 was significantly different among ESRD patients as compared to controls (p = 0.0001). The combined analysis revealed that ESRD patients with Fok1 and Bsm1 polymorphism were at increased risk of 4.33-fold. The haplotype analysis revealed individuals with a/t/F/b haplotype were at greater risk of 11.0-fold (95% CI = 1.38-87.69). The serum calcium levels were significantly higher (p = 0.001) in Bsm1 "BB" genotype.


CONCLUSIONS
Bsm1 and Fok1 gene polymorphism of VDR gene were associated with ESRD among north Indians.
Tripathi
Gaurav
G
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Sharma
Richa
R
Sharma
Raj K
RK
Gupta
Sushil Kumar
SK
Sankhwar
Satya Narayan
SN
Agrawal
Suraksha
S
D000328:Adult; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D006962:Hyperparathyroidism, Secondary / Q000209:etiology; D007676:Kidney Failure, Chronic / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D018167:Receptors, Calcitriol / Q000235:genetics*
D018167:Receptors, Calcitriol