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Further Evidence for the Role of Genes on Chromosome 2 and Chromosome 5 in the Inheritance of Pulmonary Function

Department of Human Genetics, and Pulmonary Division, Department of Internal Medicine, University of Utah, Salt Lake City, Utah

Correspondence and requests for reprints should be addressed to Alka Malhotra, University of Utah, Department of Human Genetics, 15 North 2030 East, Room 2100, Salt Lake City, UT 84112–5330. E-mail: amalhotr{at}genetics.utah.edu

The spirometric measurements FEV₁, FVC, and the ratio FEV₁/FVC are used in the diagnosis of lung function disorders. Therefore, understanding the genetics underlying these spirometric measurements will increase our knowledge of the genetics of pulmonary function. FEV₁ and FVC were measured on 264 members of 26 Utah Genetic Reference pedigrees, originally collected for the Centre d'Etude du Polymorphisme Humain genetic mapping project. Using segregation analysis, we inferred major locus inheritance of the FEV₁/FVC ratio, although we could not distinguish between a dominant or recessive mode of inheritance. No evidence of major locus inheritance was found for either FEV₁ or FVC. Suggestive evidence of linkage for the ratio FEV₁/FVC was found on chromosome 2 (heterogeneity lod = 2.36, dominant model) and chromosome 5 (heterogeneity lod = 2.23, recessive model), replicating linkages from other studies. In addition, nonparametric variance component linkage analysis showed linkage of FEV₁/FVC in both of these regions, providing further support to the results. No nonparametric lod scores over 1.5 were obtained for either FEV₁ or FVC.

Key Words: spirometric measurements • segregation analysis • linkage analysis

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