Hasstedt S J, Ramirez M E, Kuida H, Williams R R
Department of Human Genetics, University of Utah, Salt Lake City.
Am J Hum Genet. 1989 Dec;45(6):917-25.
We defined a relative-fat-pattern index (RFPI) as the ratio of subscapular skinfold thickness to the sum of subscapular and suprailiac skinfold thicknesses and computed RFPI for 774 adults (age greater than or equal to 25 years) in 59 pedigrees ascertained through cases of cardiovascular disease. Likelihood analysis of RFPI supported recessive inheritance of an allele with a frequency of 46%, which elevated mean RFPI from .412 to .533 when homozygous. The analysis apportioned the variance in RFPI as 42.3% due to the major locus, 9.5% due to polygenic inheritance, and 48.2% due to random environmental effects. Homozygotes for the recessive allele tended to have small suprailiac skinfold thicknesses rather than large subscapular skinfold thicknesses. Homozygotes were more frequent in younger than in older cases of obesity, coronary heart disease, essential hypertension, and diabetes mellitus; the increase was significant for all but diabetes.
我们将相对脂肪模式指数(RFPI)定义为肩胛下皮褶厚度与肩胛下和髂上皮肤褶厚度之和的比值,并对通过心血管疾病病例确定的59个家系中的774名成年人(年龄大于或等于25岁)计算了RFPI。RFPI的似然分析支持一个等位基因的隐性遗传,其频率为46%,纯合时平均RFPI从0.412提高到0.533。分析将RFPI的方差分配为:42.3%归因于主基因座,9.5%归因于多基因遗传,48.2%归因于随机环境效应。隐性等位基因的纯合子往往髂上皮肤褶厚度较小,而不是肩胛下皮肤褶厚度较大。在肥胖、冠心病、原发性高血压和糖尿病的年轻病例中,纯合子比老年病例更常见;除糖尿病外,所有疾病的这种增加都具有显著性。