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

Abstract

We undertook this study in order to examine the association between bone mineral density (BMD) and a polymorphism at the first of two potential translation initiation codons in the vitamin D receptor (VDR) gene. This polymorphism was detected by restriction fragment length polymorphism analysis, using polymerase chain reaction (PCR) and the restriction endonuclease FokI. The f allele indicates the presence of the FokI site, and the F allele its absence. The FokI genotype was determined in 174 postmenopausal Korean women, aged 43-71 years. The distribution of FokI genotypes in Koreans was found 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 polymorphism and lumbar BMD; P ϭ 0.048, analysis of covariance [ANCOVA], but no association with femoral neck BMD (P ϭ 0.505, ANCOVA). Those with the ff genotype had a 13.3% lower BMD in the lumbar spine than the FF subjects. In addition, a significantly higher prevalence of the ff genotype was observed in osteoporotic compared with osteopenic or normal women (P ϭ 0.036, 2 test). These data suggest that the ff genotype of the VDR gene correlates with decreased BMD in the lumbar spine in postmenopausal Korean women.

Association between VDR and ESR1 gene polymorphisms with bone and obesity phenotypes in Chinese male nuclear families

“…Extensive population-based association studies have been performed in different ethnic groups to test the relationships between VDR and ESR1 genotypes and BMD variation [32,33] . However, the results have been inconsistent or even contradictory.…”

Associations Between Polymorphisms in the Vitamin D Receptor and Breast Cancer Risk

“…Vitamin D is also known to have antiproliferative effects (27,28) and to interact with many other systems besides calcium metabolism, including immune modulation and regulation of cell growth and differentiation (29). In addition, the ff genotype has been associated with decreased bone mineral density in a number of studies across multiple ethnic groups (12)(13)(14)(15)(16)(17).…”

“…The presence of this site ('' f '') allows protein translation to begin from the first initiation codon rather than from the second (''F''), resulting in a protein that is three amino acids longer. The longer protein (f allele) is a less active transcriptional activator (10,11), and the ff genotype has been associated with decreased bone mineral density in multiple ethnic groups (12)(13)(14)(15)(16)(17). The BSM1 restriction enzyme identifies a polymorphic site at an intron at the 3V-end which is in linkage disequilibrium with several other polymorphisms, including APA1, TAQ1, and the variable-length poly(A) (ref.…”

The Association between Vitamin D Receptor FokI Gene Polymorphism and Osteoporosis in Postmenopausal Women: A Meta-Analysis

“…Five studies [16,[22][23][24][25] were performed in Caucasians and another five investigations [26][27][28][29][30] were conducted in Asians. Furthermore, two reports [14,31] were from mixed ethnicities.…”