A Vitamin D Receptor Gene Polymorphism in the Translation Initiation Codon: Effect on Protein Activity and Relation to Bone Mineral Density in Japanese Women

Abstract

The effect of a T-C transition polymorphism at the translation initiation codon of the human vitamin D receptor (VDR) gene on the biological function of the encoded protein was investigated. Of 239 Japanese women volunteers subjected to genotype analysis for this polymorphism, 32 (13%) were genotype MM (the M allele is ATG at the putative translation start site), 75 (31%) were genotype mm (the m allele is ACG at the putative translation start site), and 132 (55%) were genotype Mm. The bone mineral density (BMD) in the lumbar spine (L2-L4) was determined for 110 healthy premenopausal women from the volunteers and was shown to be 12.0% greater ( p < 0.05) for mm homozygotes than for MM homozygotes.

Association of a VDR Gene Polymorphism with Risk of Colorectal Cancer in Kashmir

“…Fok I polymorphism is known to alter ATG start codon to ACG, that shortens the resulting receptor protein by three amino acid length (Arai et al, 1997;Miyamato et al, 1997;Gross et al, 1998;Jurutka et al, 2000) which is represented by F. This F allele has been repeatedly suggested to transmit stronger anti-proliferative and prodifferentation signals, by interacting with TFIIB (Jurutka et al, 2000;Whitfield et al, 2001;Wong et al, 2003). This observation in our ethnic population is consistent with some of the previous observations found among different races in different parts of the world (Arai et al, 1997;Jurutka et al, 2000).…”

Polymorphisms in the vitamin D receptor and the androgen receptor gene associated with the risk of urolithiasis

“…The ff and Ff forms of the VDR gene are associated with a decreased VDR efficiency (24). The high prevalence of Ff genotype in our population is accord to (25).…”

Association of vitamin D receptor gene polymorphisms and Parkinson's disease in Hungarians

“…This polymorphism results in different translation initiation sites: if the VDR gene contains C allele, the protein will be three amino acids shorter. Difference in length may result in altered VDR function [2,38].…”