Borecki I B, Higgins M, Schreiner P J, Arnett D K, Mayer-Davis E, Hunt S C, Province M A
Division of Biostatistics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Obes Res. 1998 Mar;6(2):107-14. doi: 10.1002/j.1550-8528.1998.tb00323.x.
The body mass index (BMI) is a complex phenotype representing the amount of fat mass, lean mass, body build and proportions, and it is likely to be affected by various metabolic processes, hormonal effects, energy intake and expenditure, and interactions within and among these broad categories of etiologic factors. Nonetheless, several previous studies have reported evidence for major gene segregation for the BMI in various populations. Data on a random sample of Caucasian families participating in the National Heart, Lung, and Blood Institute (NHLBI) Family Heart Study were analyzed to document the extent of familial resemblance and to investigate whether a similar monogenic inheritance pattern could be detected. Genetic analysis was carried out on age- and sex-adjusted BMI values. Familial correlations were significant implying a maximal heritability, including all genetic and environmentally inherited additive factors, of 41% to 59%. Segregation analysis revealed the presence of two maximum likelihood solutions, one characterized as a recessive Mendelian gene and the other as a major effect with an ambiguous transmission pattern. The presence of two such solutions is consistent with detection of two separate factors, each influencing the BMI distribution in a substantive manner. The evidence also supports a multifactorial background for BMI and suggests that the frequencies of these two factors, one of which appears to be a gene, may vary among diverse populations in the United States.
体重指数（BMI）是一种复杂的表型，代表脂肪量、瘦体重、体型和身体比例，它可能受到各种代谢过程、激素作用、能量摄入与消耗以及这些广泛病因因素内部和之间相互作用的影响。尽管如此，先前的几项研究报告了不同人群中BMI存在主要基因分离的证据。对参与美国国立心肺血液研究所（NHLBI）家庭心脏研究的白人家庭随机样本数据进行分析，以记录家族相似程度，并调查是否能检测到类似的单基因遗传模式。对年龄和性别调整后的BMI值进行遗传分析。家族相关性显著，这意味着最大遗传度（包括所有遗传和环境遗传的加性因素）为41%至59%。分离分析显示存在两种最大似然解，一种被表征为隐性孟德尔基因，另一种为具有模糊传递模式的主要效应。存在这两种解与检测到两个独立因素一致，每个因素都以实质性方式影响BMI分布。证据还支持BMI的多因素背景，并表明这两个因素（其中一个似乎是基因）的频率在美国不同人群中可能有所不同。
