Sowers M R, Boehnke M, Jannausch M L, Crutchfield M, Corton G, Burns T L
Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor 48109.
Calcif Tissue Int. 1992 Feb;50(2):110-4. doi: 10.1007/BF00298785.
The contributions of polygenic loci and environmental factors to femoral bone mineral density (BMD) in g/cm2) variability were estimated in modified family sets consisting of women of child-bearing age. Femoral BMDs were measured in 535 women who were members of 137 family sets consisting minimally of an index, her sister, and unrelated female control. The family set could also include multiple sisters and first cousins. Women included in these family sets were all between 20 and 40 years of age to minimize the cohort effects of maturation and menopause on measures of BMD. BMDs were measured at three femoral sites using dual photon densitometry. Values were regressed on age and Quetelet Index which explained 13-15% of the variability in BMD (dependent on site). Subsequent variance components analysis on the residuals indicated that unmeasured polygenic loci accounted for substantial additional variability: 67% for femoral neck, 58% for Wards triangle, and 45% for trochanter. These results suggest that polygenic loci account for approximately half of the variability in maximal femoral BMD.
在由育龄女性组成的改良家庭组中,评估了多基因位点和环境因素对股骨骨密度(单位:g/cm²)变异性的影响。对535名女性的股骨骨密度进行了测量,这些女性来自137个家庭组,每个家庭组至少包括一名索引女性、她的姐妹以及无关的女性对照。家庭组也可能包括多个姐妹和一级表亲。纳入这些家庭组的女性年龄均在20至40岁之间,以尽量减少成熟和绝经对骨密度测量的队列效应。使用双能光子密度测定法在三个股骨部位测量骨密度。将测量值对年龄和体重指数进行回归分析,年龄和体重指数解释了骨密度变异性的13%至15%(取决于测量部位)。随后对残差进行的方差成分分析表明,未测量的多基因位点导致了大量额外的变异性:股骨颈为67%,沃德三角区为58%,大转子为45%。这些结果表明,多基因位点约占股骨最大骨密度变异性的一半。