Association of the vitamin D receptor start codon polymorphism (FokI) withbone mineral density in postmenopausal Korean women

We undertook this study in order to examine the association between bone mi neral density (BMD) and a polymorphism at the first of two potential transl ation initiation codons in the vitamin D receptor (VDR) gene. This polymorp hism was detected by restriction fragment length polymorphism analysis, usi ng polymerase chain reaction (PCR) and the restriction endonuclease FokI. T he f allele indicates the presence of the FokI site, and the F allele its a bsence. The FokI genotype was determined in 174 post menopausal Korean wome n, aged 43-71 years. The distribution of FokI genotypes in Koreans was foun d not to differ significantly from those found in Caucasians and Japanese, although it does differ significantly from that found in the black American population. We observed a significant association between the FokI polymor phism and lumbar BMD; P = 0.048, analysis of covariance [ANCOVA], but no as sociation vith femoral neck BMD (P = 0.505, ANCOVA). Those with the ff geno type had a 13.3% lower BMD in the lumbar spine than the FF subjects. In add ition, a significantly higher prevalence of the ff genotype was observed in osteoporotic compared with osteopenic or normal women (P = 0.036, chi(2) t est). These data suggest that the Sf genotype of the VDR gene correlates wi th decreased BMD in the lumbar spine in postmenopausal Korean women.