Journal
NATURE GENETICS
Volume 43, Issue 6, Pages 539-U67Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.838
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Funding
- US National Heart, Lung and Blood Institute [R01HL068927, R01HL068890, R01HL095396]
- US National Institute of Diabetes and Digestive and Kidney Diseases [R01DK066368, K23DK083551, P30DK027651]
- US National Institute of Mental Health [SOLAR-MH059490]
- US National Human Genome Research Institute [HG-0004314]
- US Cystic Fibrosis Foundation [CUTTIN00A0, CUTTIN06P0, COLLAC07A0, RDP-R025-CR07, KNOWLE00A0, RDP-R026-CR07, DRUMM0A00, GENOMEQUEBEC07DDS0]
- Flight Attendant Medical Research Institute [FAMRI2006]
- Lawson Wilkins Pediatric Endocrine Society
- Canadian Cystic Fibrosis Foundation
- Genome Canada through the Ontario Genomics Institute [2004-OGI-3-05]
- Ontario Research Fund
- Lloyd Carr-Harris Foundation
- Canadian Institutes of Health Research
- Ontario Women's Health Council
- US Cystic Fibrosis Foundation (CFF)
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A combined genome-wide association and linkage study was used to identify loci causing variation in cystic fibrosis lung disease severity. We identified a significant association (P = 3.34 x 10(-8)) near EHF and APIP (chr11p13) in p. Phe508del homozygotes (n = 1,978). The association replicated in p. Phe508del homozygotes (P = 0.006) from a separate family based study (n = 557), with P = 1.49 x 10(-9) for the three-study joint meta-analysis. Linkage analysis of 486 sibling pairs from the family based study identified a significant quantitative trait locus on chromosome 20q13.2 (log(10) odds = 5.03). Our findings provide insight into the causes of variation in lung disease severity in cystic fibrosis and suggest new therapeutic targets for this life-limiting disorder.
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