Vitamin D receptor and collagen type1α1 gene polymorphisms in patients with postmenauposal osteoporosis

Purpose:In our study, our aim was to investigate the genotype and allele frequencies of osteoporosis related candidate genes, VDR and COL1A1 gene polymorphisms and their relationship between biochemical and anatomic variables in patients with postmenopausal osteoporosis and healthy women in the Cukurova region of Turkey. Materials and Methods:Eighty-four postmenopausal osteoporotic women patients and fourty-five healthy postmenopausal women (control group) were recruited after giving informed consent. Four polymorphic restriction sites (ApaI, TaqI, BsmI and FokI) for VDR gene and two polymorphic restriction sites (Sp1 and -1997 G/T) for the COL1A1 gene were examined. All subjects were genotyped employing polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP). Results:The frequencies of VDR and COL1A1 polymorphisms genotypes, alleles and haplotypes were not statistically significant between postmenopausal osteoporotic patients and control groups. Among BsmI, ApaI and TaqI polymorphisms for VDR gene, and -1997 G/T and Sp1 polymorphisms for COL1A1 gene, there have a strong linkage disequilibrium. The most common haplotypes were “BAt” for patients and “baT” for controls in VDR gene, the “TG” haplotype (other impression “TS”) was the most seen in two groups for COL1A1 gene. Conclusion:Some polymorphisms are directly related to development of disease by causing changes in the protein sequence or by altering gene regulation, whereas other nonfunctional polymorphisms can simply act as a marker of disease because they are in linkage disequilibrium with mutations in the same gene or in genes nearby. VDR and COL1A1 gene polymorphisms play key roles in osteoporosis susceptibility and BMD in postmenopausal women. Our findings implied that polymorphisms of the VDR and COL1A1 genes were not associated with low BMD or fractures in postmenopausal Turkish women