TY - JOUR
T1 - A Genome-Wide Scan of Pulmonary Function Measures in the National Heart, Lung, and Blood Institute Family Heart Study
AU - Wilk, Jemma B.
AU - DeStefano, Anita L.
AU - Arnett, Donna K.
AU - Rich, Stephen S.
AU - Djousse, Luc
AU - Crapo, Robert O.
AU - Leppert, Mark F.
AU - Province, Michael A.
AU - Cupples, L. Adrienne
AU - Gottlieb, Daniel J.
AU - Myers, Richard H.
PY - 2003/6/1
Y1 - 2003/6/1
N2 - Spirometric measures of pulmonary function exhibited high heritability in the National Heart, Lung, and Blood Institute Family Heart Study. A genome scan of FEV1, FVC, and the ratio of FEV1/FVC was performed to identify chromosomal regions influencing these measures. The pulmonary traits were adjusted through multiple linear regression techniques for the effects of age, age2, body mass index, height, smoking status, and pack-years of smoking. The distribution of FEV1/FVC was transformed to account for nonnormality, and standardized residuals were used as the quantitative trait for variance component linkage analysis in GENEHUNTER (Whitehead Institute, Cambridge, MA). The genome scan identified regions on chromosomes 4 and 18 with logarithm of the odds favoring linkage (LOD) scores above 2.5, and these two chromosomes were further evaluated by incorporating additional marker genotyping. The FEV1/FVC ratio was linked to chromosome 4 around 28 centimorgans (cM; D4S1511) with a LOD score of 3.5, and the transformed ratio was linked to the same region with a LOD of 2.0. FEV1 and FVC were suggestively linked to regions on chromosome 18 with multipoint LOD scores of 2.4 for FEV1 and 1.5 for FVC at 31 cM (D18S843) and a LOD of 2.9 for FVC at 79 cM (D18S858).
AB - Spirometric measures of pulmonary function exhibited high heritability in the National Heart, Lung, and Blood Institute Family Heart Study. A genome scan of FEV1, FVC, and the ratio of FEV1/FVC was performed to identify chromosomal regions influencing these measures. The pulmonary traits were adjusted through multiple linear regression techniques for the effects of age, age2, body mass index, height, smoking status, and pack-years of smoking. The distribution of FEV1/FVC was transformed to account for nonnormality, and standardized residuals were used as the quantitative trait for variance component linkage analysis in GENEHUNTER (Whitehead Institute, Cambridge, MA). The genome scan identified regions on chromosomes 4 and 18 with logarithm of the odds favoring linkage (LOD) scores above 2.5, and these two chromosomes were further evaluated by incorporating additional marker genotyping. The FEV1/FVC ratio was linked to chromosome 4 around 28 centimorgans (cM; D4S1511) with a LOD score of 3.5, and the transformed ratio was linked to the same region with a LOD of 2.0. FEV1 and FVC were suggestively linked to regions on chromosome 18 with multipoint LOD scores of 2.4 for FEV1 and 1.5 for FVC at 31 cM (D18S843) and a LOD of 2.9 for FVC at 79 cM (D18S858).
KW - Genome
KW - Linkage
KW - Spirometry
UR - http://www.scopus.com/inward/record.url?scp=0038808991&partnerID=8YFLogxK
U2 - 10.1164/rccm.200207-755OC
DO - 10.1164/rccm.200207-755OC
M3 - Article
C2 - 12637344
AN - SCOPUS:0038808991
SN - 1073-449X
VL - 167
SP - 1528
EP - 1533
JO - American journal of respiratory and critical care medicine
JF - American journal of respiratory and critical care medicine
IS - 11
ER -