Major genetic mechanisms in pulmonary function

Benjamin A. Rybicki, Terri H. Beaty, Bernice H. Cohen

Research output: Contribution to journalArticlepeer-review

42 Scopus citations


Regresssive models were used to search for possible major gene effects on pulmonary function in two groups of families: one ascertained through patients with chronic obstructive pulmonary disease [COPD defined as forced expiratory volume in one second (FEV1) < 70% forced vital capacity (FVC)] and the other ascertained through patients with non-pulmonary disorders. There were 85 COPD families with data on 270 individuals and 56 non-pulmonary families with data on 199 individuals. The analysis was done on residuals obtained from a regression of FEV, on age, sex, race, height, and ascertainment group. Smoking status was incorporated directly as a covariate in the regressive models. Data on probands were excluded in this analysis as a partial correction for ascertainment bias. The best fitting model for the 85 COPD families included a major gene effect with sex specific variances, but no residual familial correlation. The best fitting model for the non-pulmonary families was one with no major gene effect and no residual familial correlation. Cigarette smoking was a significant covariate in both groups of families. Testing for heterogeneity showed a significant difference in the control of pulmonary function among these COPD and non-pulmonary families (ξ2 = 20.12 on 6 df; p = 0.0026). Major gene effects appear to be limited to these COPD families, while there was no evidence for major gene effects in the non-pulmonary families.

Original languageEnglish (US)
Pages (from-to)667-675
Number of pages9
JournalJournal of Clinical Epidemiology
Issue number7
StatePublished - 1990


  • COPD
  • Major gene effects
  • Pulmonary function
  • Regressive models
  • Residual FEV

ASJC Scopus subject areas

  • Epidemiology


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