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关于脂质水平的遗传和环境影响的双胞胎研究。

Twin study of genetic and environmental effects on lipid levels.

作者信息

O'Connell D L, Heller R F, Roberts D C, Allen J R, Knapp J C, Steele P L, Silove D

机构信息

Faculty of Medicine, University of Newcastle, N.S.W., Australia.

出版信息

Genet Epidemiol. 1988;5(5):323-41. doi: 10.1002/gepi.1370050504.

Abstract

A study of 106 pairs of monozygotic (MZ) and 94 pairs of dizygotic (DZ) twins tested the hypothesis that part of the previously described genetic influence on blood lipid levels can be ascribed to closer similarities among MZ than among DZ twin pairs in environmental factors that affect lipid levels. Participants were adult twin volunteers (age 17-66; 64 male and 136 female pairs) who were selected from the NH & MRC Twin Registry or were respondents to advertisements. They completed a 4-day weighed food diary from which mean nutrient intake was derived. Information on lifestyle and demographic variables was obtained by questionnaire and a nonfasting blood sample was taken for measures of total, low-density lipoprotein (LDL) cholesterol, and high-density lipoprotein (HDL) cholesterol and the HDL2 and HDL3 subfractions. Height and weight were measured, and body mass index (BMI) was calculated (kg/m2). Estimates of the heritability of sex-adjusted lipid levels were 0.72 for total cholesterol, 0.79 for HDL cholesterol, 0.69 for HDL2, 0.20 for HDL3, 1.06 for LDL cholesterol, and 0.44 for sex-adjusted BMI. In all cases except for HDL3, genetic variance was statistically significant. After adjusting for the effects of environmental variables in three different ways, the estimates of heritability were somewhat lower for total cholesterol, HDL2, and BMI, and those for HDL cholesterol (borderline) and LDL cholesterol (definitely) remained statistically significant but were decreased. A genetic influence on HDL3 was not found. Adjusted heritability estimates obtained from one method of analysis were 0.35 for total cholesterol, 0.49 for HDL, 0.04 for HDL2, -0.34 for HDL3, 0.66 for LDL, and 0.32 for BMI. These results suggest that the assumptions made in the classical twin study approach are not appropriate when examining genetic effects on lipid levels or BMI, or indeed on any biological variable that may be affected by environmental factors that tend to be more similar in MZ twins than in DZ twins. In these circumstances, more complex models may be needed to differentiate between genetic and environmental influences.

摘要

一项针对106对同卵双胞胎(MZ)和94对异卵双胞胎(DZ)的研究,检验了以下假设:先前描述的对血脂水平的部分遗传影响,可归因于同卵双胞胎在影响血脂水平的环境因素方面比异卵双胞胎更为相似。参与者为成年双胞胎志愿者(年龄17 - 66岁;64对男性和136对女性),他们是从国家健康与医学研究委员会双胞胎登记处选取的,或者是广告的响应者。他们完成了一份为期4天的称重食物日记,据此得出平均营养摄入量。通过问卷调查获取生活方式和人口统计学变量的信息,并采集一份非空腹血样,用于测量总胆固醇、低密度脂蛋白(LDL)胆固醇、高密度脂蛋白(HDL)胆固醇以及HDL2和HDL3亚组分。测量身高和体重,并计算体重指数(BMI,kg/m²)。经性别调整后的血脂水平遗传度估计值分别为:总胆固醇0.72、HDL胆固醇0.79、HDL2 0.69、HDL3 0.20、LDL胆固醇1.06、经性别调整后的BMI 0.44。除HDL3外,在所有情况下遗传方差均具有统计学意义。以三种不同方式调整环境变量的影响后,总胆固醇、HDL2和BMI的遗传度估计值有所降低,而HDL胆固醇(临界值)和LDL胆固醇(肯定)的估计值仍具有统计学意义,但有所下降。未发现对HDL3有遗传影响。从一种分析方法获得的调整后遗传度估计值分别为:总胆固醇0.35、HDL 0.49、HDL2 0.04、HDL3 - 0.34、LDL 0.66、BMI 0.32。这些结果表明,在研究对血脂水平或BMI,或实际上对任何可能受环境因素影响的生物学变量的遗传效应时,经典双胞胎研究方法中所做的假设并不合适,在同卵双胞胎中环境因素往往比异卵双胞胎更为相似。在这种情况下,可能需要更复杂的模型来区分遗传和环境影响。

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