Benevol'skaia L I, Finogenova S A, Alekseeva L I, Erdes Sh
Genetika. 1991 Jan;27(1):138-46.
The study on the nature of genetic determination of the definite rheumatoid arthritis (RA) and its forms was carried out, based on the material comprising clinical data on 189 probands and their 1st and 2nd degree relatives (713 subjects) which is contained in the computer Family Data Bank at the Department of Epidemiology and Genetics of this institute. The heritability coefficient "in narrow sense" (80%) obtained within the framework of the multifactorial threshold model confirmed once more important role of genetic factors in the appearance of the disease. The study of genetic heterogeneity within the framework of the Ch. Smith's and T. Reich's models failed to reveal any independent genetically RA forms. An assumption of the essential role of the genes localized in the X chromosome, based on diverse susceptibility of sexes, received no conformation. It has been shown that the RA distribution in the population and families may well be described by means of a variant of the single autosomal two-allele locus model with incomplete and differentiated for two sexes penetrance. The model parameters obtained, a particular penetrance of the mutant homozygote in both sexes equalling 100%, and penetrance of the normal homozygote equalling 0 in men and reaching 0 (0.028%) in women testify to a very essential influence of the major gene on determination of RA.
基于该研究所流行病学与遗传学系计算机家庭数据库中包含的189名先证者及其一级和二级亲属（共713名受试者）的临床数据，开展了关于明确类风湿性关节炎（RA）及其亚型的遗传决定性质的研究。在多因素阈值模型框架内获得的“狭义”遗传力系数（80%）再次证实了遗传因素在该疾病发生中的重要作用。在Ch. Smith模型和T. Reich模型框架内对遗传异质性的研究未能揭示任何独立的遗传性RA亚型。基于不同性别的易感性而做出的位于X染色体上的基因起关键作用的假设未得到证实。研究表明，通过单常染色体双等位基因位点模型的一个变体可以很好地描述RA在人群和家庭中的分布情况，该模型具有不完全且因性别而异的外显率。所获得的模型参数，即突变纯合子在两性中的特定外显率均为100%，正常纯合子在男性中的外显率为0，在女性中为0（0.028%），证明了主基因对RA决定作用的极其重要的影响。
