Understanding the population structure of North American patients with cystic fibrosis

Clinical Genetics

Volumn 79, Issue 2, 2011, Pages 136-146

  Li, W ^a   Sun, L ^b   Corey, M ^a,b   Zou, F ^c   Lee, S ^c   Cojocaru, A L ^a   Taylor, C ^a,b   Blackman, S M ^d   Stephenson, A ^e   Sandford, A J ^f   Dorfman, R ^a   Drumm, M L ^g   Cutting, G R ^d   Knowles, M R ^h   Durie, P ^a   Wright, F A ^c   Strug, L J ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c IL   (United States)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e ST MICHAEL'S HOSPITAL   (Canada)

^f UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^g CASE WESTERN RESERVE UNIVERSITY   (United States)

^h UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Ethnicity; Population stratification; Population substructure; Principal component analysis

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CYSTIC FIBROSIS; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; NORTH AMERICA; POPULATION STRUCTURE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CYSTIC FIBROSIS; DEMOGRAPHY; ETHNIC GROUPS; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; NORTH AMERICA; PRINCIPAL COMPONENT ANALYSIS;

EID: 78650898621     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01502.x     Document Type: Article

References (18)

1. Kerem E, Corey M, Kerem BS et al. The relation between genotype and phenotype in cystic fibrosis - analysis of the most common mutation (delta f508). N Engl J Med 1990: 323: 1517-1522.
2. Vanscoy LL, Blackman SM, Collaco JM et al. Heritability of lung disease severity in cystic fibrosis. Am J Respir Crit Care Med 2007: 175: 1036-1043.
3. Pritchard JK, Stephens M, Rosenberg NA, Donnelly P. Association mapping in structured populations. Am J Hum Genet 2000: 67: 170-181.
4. Devlin B, Roeder K. Genomic control for association studies. Biometrics 1999: 55: 997-1004.
5. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006: 38: 904-909.
6. Patterson N, Price AL, Reich D. Population structure and eigenanalysis. PLoS Genet 2006: 2: e190.
7. Drumm ML, Konstan MW, Schluchter MD et al. Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med 2005: 353: 1443-1453.
8. Ahmed N, Corey M, Forstner G et al. Molecular consequences of cystic fibrosis transmembrane regulator (cftr) gene mutations in the exocrine pancreas. Gut 2003: 52: 1159-1164.
9. Dorfman R, Nalpathamkalam T, Taylor C et al. Do common in silico tools predict the clinical consequences of amino-acid substitutions in the cftr gene? Clin Genet 2010: 77: 464-473.
10. Purcell S, Neale B, Todd-Brown K et al. Plink: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007: 81: 559-575.
11. The International Hapmap Consortium. The international hapmap project. Nature 2003: 426: 789-796.
12. Cattell RB. The screen test for the number of factors. Multivariate Behav Res 1966: 1 (2): 245-276.
13. R development core team 2008, R: A language and environment for statistical computing. R foundation for statistical computing, vienna, austria, isbn 3-900051-07-0.
14. Burnett MS, Strain KJ, Lesnick TG, de Andrade M, Rocca WA, Maraganore DM. Reliability of self-reported ancestry among siblings: Implications for genetic association studies. Am J Epidemiol 2006: 163 (5): 486-492.
15. Hahn RA, Truman BI, Barker ND. Identifying ancestry: the reliability of ancestral identification in the united states by self, proxy, interviewer, and funeral director. Epidemiology 1996: 7: 75-80.
16. Serre D, Montpetit A, Pare G et al. Correction of population stratification in large multi-ethnic association studies. PLoS One 2008: 3: e1382.
17. Mei-Zahav M, Durie P, Zielenski J et al. The prevalence and clinical characteristics of cystic fibrosis in south Asian Canadian immigrants. Arch Dis Child 2003: 90: 675-679.
18. Gorroochurn P, Hodge SE, Heiman GA, Greenberg DA. A unified approach for quantifying, testing and correcting population stratification in case-control association studies. Hum Hered 2007: 64: 149-159.