Chen Y, Rennie D C, Lockinger L A, Dosman J A
Centre for Agricultural Medicine, University of Saskatchewan, Saskatoon, Canada.
Genet Epidemiol. 1997;14(1):63-76. doi: 10.1002/(SICI)1098-2272(1997)14:1<63::AID-GEPI5>3.0.CO;2-6.
Familial correlation and segregation analyses of forced vital capacity (FVC) were performed on data from 309 nuclear families with 1,045 individuals in the town of Humboldt, Saskatchewan, in 1993. FVC was preadjusted for age, height, and weight in four separate groups (mothers, fathers, daughters, and sons). Residual FVC was standardized within the four groups. Class D regressive model was first used to examine the familial resemblance of FVC without a major gene. While mother-father correlation was not significantly different from zero and mother-sibling and father-sibling correlations were not significantly different from each other, sibling-sibling correlation was greater than parent-sibling correlation. Segregation analysis for all 309 families indicated that both the Mendelian and no-parent-offspring-transmission models fitted the data as did the general model with arbitrary transmission probabilities. Likelihoods under the Mendelian model (LMendelian) and the environmental model (Lenvironmental) were calculated. Based on the value of In(LMendelian/Lenvironmental), 309 families were divided into two groups: 196 families with the value of In(LMendelian/Lenvironmental) greater than zero (group I) and 113 families with the value In(LMendelian/Lenvironmental) less than zero (group II). The Mendelian transmission model without familial correlations was the most parsimonious model for the families in group I. For group II, there were two best models of choice: 1) no-parent-offspring-transmission model with possible heterogeneity plus familial correlations [Akaike's information criterion (AIC) = 1,213.76] and 2) Mendelian transmission plus sibling-sibling correlation model (AIC = 1,202.36). The results suggest there are major genetic mechanisms in FVC with possible heterogeneity.
1993年，对加拿大萨斯喀彻温省洪堡镇309个核心家庭的1045名个体数据进行了用力肺活量（FVC）的家族相关性和分离分析。FVC在四个独立组（母亲、父亲、女儿和儿子）中按年龄、身高和体重进行了预调整。残余FVC在四组内进行了标准化。首先使用D类回归模型来检验无主基因时FVC的家族相似性。虽然父母之间的相关性与零无显著差异，母亲与兄弟姐妹以及父亲与兄弟姐妹之间的相关性彼此无显著差异，但兄弟姐妹之间的相关性大于父母与兄弟姐妹之间的相关性。对所有309个家庭的分离分析表明，孟德尔模型和无亲子传递模型都与数据拟合，具有任意传递概率的一般模型也是如此。计算了孟德尔模型（LMendelian）和环境模型（Lenvironmental）下的似然值。根据In（LMendelian/Lenvironmental）的值，309个家庭被分为两组：196个家庭In（LMendelian/Lenvironmental）值大于零（第一组）和113个家庭In（LMendelian/Lenvironmental）值小于零（第二组）。对于第一组家庭，无家族相关性的孟德尔传递模型是最简约的模型。对于第二组，有两个最佳选择模型：1）具有可能异质性加家族相关性的无亲子传递模型[赤池信息准则（AIC）=1213.76]和2）孟德尔传递加兄弟姐妹相关性模型（AIC =1202.36）。结果表明，FVC存在主要遗传机制且可能具有异质性。
