The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal mexican‐American women

摘要: We examined the association of bone mineral density (BMD) with a polymorphism in gene encoding vitamin D receptor (VDR) that causes change predicted protein sequence. The results from C-to-T transition and creates an initiation codon (ATG) three codons proximal to downstream start site. can be defined by restriction fragment length (RFLP) using endonuclease FokI. presence FokI site, designated f, allows translation initiate first ATG. allele lacking site (designated F), initiates second ATG Thus, products these alleles are differ amino acids f variant elongated. In group 100 postmenopausal Mexican-American Caucasian women, subjects ff genotype (15% study population) had 12.8% lower BMD at lumbar spine than FF (37% (p = 0.01). Heterozygote (Ff) (48% intermediate BMD. This between was not apparent femoral neck or forearm. Over 2-year follow-up period, decrease greater compared (-4.7% vs. -0.5%, p 0.005). trend There were no differences groups measurements 25-hydroxyvitamin (25(OH)D), calcitriol, parathyroid hormone (PTH), osteocalcin, urinary pyridinolines. conclude VDR correlates significantly decreased increased rate loss hip subjects. emphasize initial data should interpreted caution but utility this as genetic marker determine osteoporosis risk warrants further larger populations diverse ethnic backgrounds.