Investigation of vitamin D receptor; Taq1, Apa1, Bsm1, Fok1, and Type 1 collagen alpha 1 chain; Sp1 and-1997 G/T gene polymorphisms in postmenopausal patients with osteoporosis

Osteoporosis is a multifactorial polygenic disease characterized by a reduced bone mass, which leads to micro architectural deterioration of bone tissue and increased fracture risk. Twin and family studies have shown that genetic factors play an important role along with the environmental factors in the pathogenesis of osteoporosis. Several candidate genes such as vitamin D receptor (VDR), type I collagen ? 1 chain (COLIA1), estrogen receptor-? (ER-?) and interleukin-6 (IL-6) genes have been associated with bone mineral density BMD. In this study, 84 osteoporotic postmenopausal (64,48±9,61 years of age) and 45 healthy postmenopausal (58,31 ±8,61 years of age) women included to investigate the relationship between VDR and COLIA1 gene polymorphisms (BsmI, ApaI, TaqI, FokI, Sp1 and -1997 G/T), distribution of genotype and allele frequencies and BMD, as well as biochemical markers of bone remodeling. In addition to these, numerous environmental factors that contribute to the maintenance of bone mass were also taken into account. All subjects were genotyped by employing polymerase chain reaction?restriction fragment length polymorphism (PCR-RFLP). There was not any significant difference in the genotype and allele frequencies of VDR and COLIA1 gene polymorphisms among groups. In addition, we did not establish a significant relationship between VDR and COLIA1 polymorphisms and lumbar spine, femur neck BMD, T score and Z score and the biochemical markers of bone remodeling. In all groups most frequently observed VDR and COLIA1 genotypes were ?Bb?, ?Aa?, ?Tt?, ?FF?, ?SS? and ?GT? respectively. Beside that the most frequent haplotype for VDR gene in patients was ?BAt?, in controls ?baT? and for COLIA1 gene in both groups it was ?TG?. In conclusion, broader sample size, and different genes and theirpolymorphisms that could be related to osteoporosis should also be investigated in the future studies.