Published ahead of print on June 5, 2003, doi:10.1164/rccm.200303-410OC
Am. J. Respir. Crit. Care Med., Volume 168, Number 5, September 2003, 556-561
A more recent version of this article appeared on September 1, 2003
Submitted on March 21, 2003
Accepted on June 4, 2003
Further evidence for the role of genes on chr2 and chr5 in the inheritance of pulmonary function
Alka Malhotra1*, Andy P Peiffer1, Darin T Ryujin2, Tami Elsner1, Richard E Kanner3, Mark F Leppert1, and Sandra J Hasstedt1
1 Human Genetics, University of Utah, Salt Lake City, Utah, USA,
2 Family andPreventive Medicine, University of Utah, Salt Lake City, Utah, USA; Pulmonary Division, Internal Medicine, University of Utah, Salt Lake City, Utah, USA,
3 Pulmonary Division, Internal Medicine, University of Utah, Salt Lake City, Utah, USA
* To whom correspondence should be addressed. E-mail: amalhotr{at}genetics.utah.edu.
The spirometric measurements FEV1 (Forced Expiratory Volume in 1 second), FVC (Forced Vital Capacity), 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 (CEPH) 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 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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