Roth Stephen M, Zmuda Joseph M, Cauley Jane A, Shea Patrick R, Ferrell Robert E
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA, USA.
J Gerontol A Biol Sci Med Sci. 2004 Jan;59(1):10-5. doi: 10.1093/gerona/59.1.b10.
We investigated the association of vitamin D receptor (VDR) genotype with fat-free mass (FFM) in a cohort of 302 older (aged 58-93 years) Caucasian men who underwent body composition analysis by dual-energy X-ray absorptiometry, and completed questionnaires addressing comorbidities, physical activity, and dietary intake. All participants were genotyped for a VDR translation start site (FokI) polymorphism [FF (37.7%), Ff (48.4%), and ff (13.9%)] and the previously studied BsmI polymorphism [BB (24.9%), Bb (37.7%), and bb (37.4%)]. The BsmI polymorphism was not associated with FFM in any analysis; however, the FokI polymorphism was significantly associated with total FFM, appendicular FFM, and relative (kg/m(2)) appendicular FFM (all p <.05), with the FF group demonstrating significantly lower FFM than the Ff and ff groups (e.g., total FFM: FF = 57.6 +/- 0.4, Ff = 59.4 +/- 0.4, ff = 59.4 +/- 0.7 kg; p <.02). Age-adjusted logistic regression revealed a 2.17-fold higher risk for sarcopenia (defined previously as appendicular FFM <7.26 kg/m(2)) in FF homozygotes (95% CI [confidence interval] = 1.19-3.85; p =.03) compared to men with one or more f alleles. The VDR translation start site (FokI) polymorphism is significantly associated with FFM and sarcopenia in this cohort of older Caucasian men.
我们在一个由302名年龄较大（58 - 93岁）的白人男性组成的队列中，研究了维生素D受体（VDR）基因型与去脂体重（FFM）之间的关联。这些男性通过双能X线吸收法进行了身体成分分析，并完成了关于合并症、身体活动和饮食摄入的问卷调查。所有参与者均针对VDR翻译起始位点（FokI）多态性[FF（37.7%）、Ff（48.4%）和ff（13.9%）]以及先前研究过的BsmI多态性[BB（24.9%）、Bb（37.7%）和bb（37.4%）]进行了基因分型。在任何分析中，BsmI多态性均与FFM无关；然而，FokI多态性与总FFM、上肢FFM以及相对（kg/m²）上肢FFM显著相关（所有p < 0.05），FF组的FFM显著低于Ff组和ff组（例如，总FFM：FF = 57.6 ± 0.4，Ff = 59.4 ± 0.4，ff = 59.4 ± 0.7 kg；p < 0.02）。年龄调整后的逻辑回归显示，与携带一个或多个f等位基因的男性相比，FF纯合子患肌肉减少症（先前定义为上肢FFM < 7.26 kg/m²）的风险高倍（95%置信区间[CI] = 1.19 - 3.85；p = 0.03）。在这个老年白人男性队列中，VDR翻译起始位点（FokI）多态性与FFM和肌肉减少症显著相关。
