Journal Article

Linkage and association with pulmonary function measures on chromosome 6q27 in the Framingham Heart Study

Jemma B. Wilk, Anita L. DeStefano, Oscar Joost, Richard H. Myers, L. Adrienne Cupples, Karen Slater, Larry D. Atwood, Nancy L. Heard-Costa, Alan Herbert, George T. O'Connor and Daniel J. Gottlieb

in Human Molecular Genetics

Volume 12, issue 21, pages 2745-2751
Published in print November 2003 | ISSN: 0964-6906
Published online November 2003 | e-ISSN: 1460-2083 | DOI:
Linkage and association with pulmonary function measures on chromosome 6q27 in the Framingham Heart Study

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Spirometric measures of pulmonary function have been shown to be highly heritable and evidence for major genes influencing forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) have been reported. A genome scan of pulmonary traits in the Framingham Heart Study identified a region on chromosome 6qter with evidence for linkage to FEV1 and the FEV1/FVC ratio. For this study, additional markers were genotyped in the region to refine the location of linkage and test for association. Variance component linkage analysis was performed using GENEHUNTER, and family-based association tests were performed using FBAT. The chromosome 6 telomeric region provided significant evidence of linkage with the additional markers, resulting in a maximum multipoint LOD score of 5.0 for FEV1 at 184.5 cM. LOD scores for FVC and the FEV1/FVC ratio were also above 1.0 in this region. Evidence for association with FEV1 and FVC was observed with D6S281 at 190 cM. The strongest effect was seen with the 224 allele, which was associated with higher levels of FEV1 and FVC in allele carriers compared with those carrying other alleles. This study supports the presence of a gene influencing pulmonary function on the q-terminus of chromosome 6 in the region of 184 cM (D6S503) to 190 cM (D6S281).

Journal Article.  5665 words.  Illustrated.

Subjects: Genetics and Genomics

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