Butler Merlin G, Babe Kenneth S, Phillips John A
Dysmorphol Clin Genet. 1991;5(2):31-41.
We conducted a relatively large survey of Daughters of the American Revolution members and their relatives, currently living or dead, to estimate the frequency and type of genetic diseases and other health problems found in the general population in the United States. Sufficient information was available for data analysis on 46,664 living or dead individuals, of whom 27,509 (59%) had some type of health problem. The conditions were categorized according to established guidelines as single-gene (4.02% of all health problems: autosomal dominant 2.83%, autosomal recessive 1.06%, X-linked 0.13%), chromosomal (0.12%), sporadic (5.35%), developmental (2.47%), environmental (0.02%), multifactorial (57.44%), or unknown (30.59%). Thus, 61.5% of all health problems were due in some degree to genetic factors. The associations of specific disorders were also investigated, and several significant (chi-square test; p < 0.001) ones were identified. Some of them were not surprising (e.g., diabetes mellitus and obesity), whereas others (e.g., allergies/hayfever and alcoholism) were not expected or easily explained. Studies of such associations may open a new area of investigation on the etiology of specific diseases. Our study confirms that genetic factors play a major role in health problems in the general population.
我们对美国独立战争女儿会成员及其亲属（无论在世或已故）进行了一项规模相对较大的调查，以估计美国普通人群中发现的遗传疾病和其他健康问题的频率及类型。有46,664名在世或已故个体的足够信息可用于数据分析，其中27,509人（59%）存在某种类型的健康问题。这些疾病状况根据既定指南分为单基因疾病（占所有健康问题的4.02%：常染色体显性遗传2.83%，常染色体隐性遗传1.06%，X连锁遗传0.13%）、染色体疾病（0.12%）、散发性疾病（5.35%）、发育性疾病（2.47%）、环境性疾病（0.02%）、多因素疾病（57.44%）或不明疾病（30.59%）。因此，所有健康问题中有61.5%在某种程度上归因于遗传因素。我们还研究了特定疾病之间的关联，并确定了几个具有统计学意义的关联（卡方检验；p<0.001）。其中一些并不令人惊讶（如糖尿病和肥胖症），而其他一些（如过敏/花粉热和酗酒）则出乎意料或难以解释。对这类关联的研究可能会开辟特定疾病病因学研究的新领域。我们的研究证实，遗传因素在普通人群的健康问题中起主要作用。
