{"doi":"10.1378/chest.130.5.1441","title":"CFTR Genotype as a Predictor of Prognosis in Cystic Fibrosis","abstract":null,"journal":"Chest","year":2006,"id":657177,"datarank":12.121246608733525,"base_score":5.308267697401205,"endowment":5.308267697401205,"self_citation_contribution":0.7962401546101808,"citation_network_contribution":11.325006454123344,"self_endowment_contribution":0.7962401546101808,"citer_contribution":11.325006454123344,"corpus_percentile":null,"corpus_rank":null,"citation_count":201,"citer_count":191,"citers_with_citation_signal":159,"citers_with_endowment":159,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":460724,"name":"Christopher H. Goss","orcid":"0000-0001-8602-0309","position":1,"is_corresponding":false},{"id":380114,"name":"Moira L. Aitken","orcid":null,"position":2,"is_corresponding":false},{"id":620304,"name":"Edward F. McKone","orcid":"0000-0002-5455-8208","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"CFTR Genotype as a Predictor of Prognosis in Cystic Fibrosis","abstract":"<h4>Study rationale</h4>Certain CFTR genotypes are associated with reduced mortality. The accuracy of using CFTR genotype as a predictor of survival and the mechanisms through which CFTR genotype influences survival are unknown.<h4>Participants</h4>All patients with cystic fibrosis (CF) enrolled in the US Cystic Fibrosis Foundation national registry between 1993 and 2002.<h4>Design</h4>We examined the prognostic value of CFTR genotype, grouped into \"high-risk\" and \"low-risk\" categories based on the effect of their CFTR genotype on phenotype and protein production.<h4>Measurements and results</h4>Clinical and genetic data were available from 15,651 patients with CF. Patients with a high-risk CFTR genotype had a greater than twofold increased risk of death compared to patients with a low-risk CFTR genotype (relative risk, 2.25; 95% confidence interval [CI], 1.77 to 2.84; p < 0.001). This association was partly explained by lung function, nutritional status, pancreatic insufficiency, and Pseudomonas aeruginosa colonization. Of the 1,672 patients who died, median age at death for the high-risk CFTR genotype was 24.2 years (interquartile range, 18.4 to 32.0 years) and for the low-risk CFTR genotype was 37.6 years (interquartile range, 28.8 to 47.9 years; p < 0.001). The positive predictive value of this classification method as a test to identify patients who died before or after their 30th birthday was 69% (95% CI, 67 to 72%) with a negative predictive value of 71% (95% CI, 60 to 80%).<h4>Conclusions</h4>Grouping patients into high-risk and low-risk CFTR genotype categories is associated with significant differences in survival and median age at death. These differences are not fully explained by lung function, nutritional measures, pancreatic insufficiency, or P aeruginosa colonization. Modest reassurance about the likelihood of a milder than average course can be provided for CF patients with a low-risk CFTR genotype, although it should be acknowledged that substantial phenotypic variability exists.","is_dataset_classified":null,"base_score":5.308267697401205,"endowment":5.308267697401205,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"17099022","pmcid":null,"openalex_id":"https://openalex.org/W2002352467","authors":[],"funders":[{"funder_name":"NHLBI NIH HHS","grant_id":"K23 HL/70849-01","title":null}],"total_grants":1,"fwci":4.7475,"citation_percentile":0.94891844,"influential_citations":0,"citation_trend":[{"year":2012,"count":15},{"year":2013,"count":8},{"year":2014,"count":8},{"year":2015,"count":11},{"year":2016,"count":10},{"year":2017,"count":16},{"year":2018,"count":13},{"year":2019,"count":10},{"year":2020,"count":9},{"year":2021,"count":17},{"year":2022,"count":17},{"year":2023,"count":12},{"year":2024,"count":5},{"year":2025,"count":4}],"oa_status":"closed","license":"https://www.elsevier.com/tdm/userlicense/1.0/","oa_locations":[{"url":"https://api.elsevier.com/content/article/PII:S0012369215373219?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0012369215373219?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1378/chest.130.5.1441","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/17099022","host_type":"repository"}],"fields_of_study":["Cystic Fibrosis Research Advances","Neonatal Respiratory Health Research","Biological Research and Disease Studies"],"mesh_terms":["Adolescent","Adult","Cystic Fibrosis","Female","Genotype","Humans","Lung","Male","Middle Aged","Predictive Value of Tests","Prognosis","Pseudomonas aeruginosa","Retrospective Studies","Cohort Studies","Survival Rate","Risk Assessment","Cystic Fibrosis Transmembrane Conductance Regulator"],"keywords":["Medicine","Cystic fibrosis","Genotype","Internal medicine","Genetics","Gene"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Zero hunger"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-12T00:05:57.972895Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}