Association of NOD2 and IL23R with inflammatory bowel disease in Puerto Rico

PLoS ONE

Volumn 9, Issue 9, 2014, Pages

  Ballester, Veroushka ^a   Guo, Xiuqing ^c   Vendrell, Roberto ^a   Haritunians, Talin ^b   Klomhaus, Alexandra M ^c   Li, Dalin ^b   McGovern, Dermot P B ^b   Rotter, Jerome I ^c   Torres, Esther A ^a   Taylor, Kent D ^c  

^a UNIVERSITY OF PUERTO RICO SCHOOL OF MEDICINE   (Puerto Rico)

^b CEDARS SINAI MEDICAL CENTER   (United States)

^c LOS ANGELES BIOMEDICAL RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; CRK ASSOCIATED SUBSTRATE PROTEIN; INTERLEUKIN 23 RECEPTOR; IL23R PROTEIN, HUMAN; INTERLEUKIN RECEPTOR; NOD2 PROTEIN, HUMAN;

ADULT; AFRICA; ARTICLE; BAZ1A GENE; BCAR1 GENE; CFDP1 GENE; CONTROLLED STUDY; CROHN DISEASE; DENND1A GENE; DISEASE ASSOCIATION; EUROPE; FEMALE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GPR65 GENE; HAPLOTYPE; HUMAN; IL23R GENE; LCE1E GENE; MAJOR CLINICAL STUDY; MAJOR HISTOCOMPATIBILITY COMPLEX; MALE; NOD2 GENE; PROMOTER REGION; PUERTO RICO; SINGLE NUCLEOTIDE POLYMORPHISM; TMEM170A GENE; ULCERATIVE COLITIS; WESTERN HEMISPHERE; GENETIC PREDISPOSITION; GENETICS; INFLAMMATORY BOWEL DISEASE; MIDDLE AGED; QUANTITATIVE TRAIT LOCUS; RISK FACTOR; YOUNG ADULT;

ADULT; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HUMANS; INFLAMMATORY BOWEL DISEASES; MALE; MIDDLE AGED; NOD2 SIGNALING ADAPTOR PROTEIN; POLYMORPHISM, SINGLE NUCLEOTIDE; PUERTO RICO; QUANTITATIVE TRAIT LOCI; RECEPTORS, INTERLEUKIN; RISK FACTORS; YOUNG ADULT;

EID: 84907907763     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0108204     Document Type: Article

References (37)

1. Franke A, McGovern DP, Barrett JC, Wang K, Radford-Smith GL, et al. (2010) Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nature genetics 42: 1118-1125.
2. Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M, et al. (2011) Metaanalysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nature genetics 43: 246-252.
3. Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, et al. (2012) Hostmicrobe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 491: 119-124.
4. Yamazaki K, McGovern D, Ragoussis J, Paolucci M, Butler H, et al. (2005) Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. Human molecular genetics 14: 3499-3506.
5. Kakuta Y, Ueki N, Kinouchi Y, Negoro K, Endo K, et al. (2009) TNFSF15 transcripts from risk haplotype for Crohn's disease are overexpressed in stimulated T cells. Human molecular genetics 18: 1089-1098.
6. Zaahl MG, Winter T, Warnich L, Kotze MJ (2005) Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007fs) in South African colored patients with inflammatory bowel disease. Molecular and cellular probes 19: 278-281.
7. Ng SC, Tsoi KK, Kamm MA, Xia B, Wu J, et al. (2012) Genetics of inflammatory bowel disease in Asia: systematic review and meta-analysis. Inflammatory bowel diseases 18: 1164-1176.
8. Elson CO, Cong Y, McCracken VJ, Dimmitt RA, Lorenz RG, et al. (2005) Experimental models of inflammatory bowel disease reveal innate, adaptive, and regulatory mechanisms of host dialogue with the microbiota. Immunol Rev 206: 260-276.
9. Khor B, Gardet A, Xavier RJ (2011) Genetics and pathogenesis of inflammatory bowel disease. Nature 474: 307-317.
10. Jimenez de Wagenheim O (1998) Puerto Rico: An Interpretive History from Pre-Columbian Times to 1900. Princeton, NJ: Weiner.
11. Mann CC (2005) 1491: New Revelations of the Americas Before Columbus. New York: Random House.
12. Bryc K, Velez C, Karafet T, Moreno-Estrada A, Reynolds A, et al. (2010) Colloquium paper: genome-wide patterns of population structure and admixture among Hispanic/Latino populations. Proc Natl Acad Sci U S A 107 Suppl 2: 8954-8961.
13. Manichaikul A, Palmas W, Rodriguez CJ, Peralta CA, Divers J, et al. (2012) Population structure of Hispanics in the United States: the multi-ethnic study of atherosclerosis. PLoS Genet 8: e1002640.
14. Cortes A, Brown MA (2011) Promise and pitfalls of the Immunochip. Arthritis Res Ther 13: 101.
15. Nguyen GC, Torres EA, Regueiro M, Bromfield G, Bitton A, et al. (2006) Inflammatory bowel disease characteristics among African Americans, Hispanics, and non-Hispanic Whites: characterization of a large North American cohort. Am J Gastroenterol 101: 1012-1023.
16. Dassopoulos T, Nguyen GC, Bitton A, Bromfield GP, Schumm LP, et al. (2007) Assessment of reliability and validity of IBD phenotyping within the National Institutes of Diabetes and Digestive and Kidney Diseases (NIDDK) IBD Genetics Consortium (IBDGC). Inflamm Bowel Dis 13: 975-983.
17. Melendez JD, Larregui Y, Vazquez JM, Carlo VL, Torres EA (2011) Medication profiles of patients in the University of Puerto Rico inflammatory bowel disease registry. P R Health Sci J 30: 3-8.
18. Torres EA, Cruz A, Monagas M, Bernal M, Correa Y, et al. (2012) Inflammatory Bowel Disease in Hispanics: The University of Puerto Rico IBD Registry. Int J Inflam 2012: 574079.
19. Cavalli-Sforza LL (2005) The Human Genome Diversity Project: past, present and future. Nat Rev Genet 6: 333-340.
20. Rosenberg NA (2006) Standardized subsets of the HGDP-CEPH Human Genome Diversity Cell Line Panel, accounting for atypical and duplicated samples and pairs of close relatives. Ann Hum Genet 70: 841-847.
21. Li JZ, Absher DM, Tang H, Southwick AM, Casto AM, et al. (2008) Worldwide human relationships inferred from genome-wide patterns of variation. Science 319: 1100-1104.
22. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
23. Patterson N, Price AL, Reich D (2006) Population structure and eigenanalysis. PLoS Genet 2: e190.
24. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38: 904-909.
25. Alexander DH, Lange K (2011) Enhancements to the ADMIXTURE algorithm for individual ancestry estimation. BMC Bioinformatics 12: 246.
26. Alexander DH, Novembre J, Lange K (2009) Fast model-based estimation of ancestry in unrelated individuals. Genome Res 19: 1655-1664.
27. Chen MH, Yang Q (2010) GWAF: an R package for genome-wide association analyses with family data. Bioinformatics 26: 580-581.
28. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
29. Pasaniuc B, Sankararaman S, Kimmel G, Halperin E (2009) Inference of locusspecific ancestry in closely related populations. Bioinformatics 25: i213-221.
30. Baran Y, Pasaniuc B, Sankararaman S, Torgerson DG, Gignoux C, et al. (2012) Fast and accurate inference of local ancestry in Latino populations. Bioinformatics 28: 1359-1367.
31. Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68: 978-989.
32. Stephens M, Scheet P (2005) Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet 76: 449-462.
33. Scheet P, Stephens M (2006) A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet 78: 629-644.
34. Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, et al. (2001) Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411: 599-603.
35. Hugot JP, Zaccaria I, Cavanaugh J, Yang H, Vermeire S, et al. (2007) Prevalence of CARD15/NOD2 mutations in Caucasian healthy people. Am J Gastroenterol 102: 1259-1267.
36. Lesage S, Zouali H, Cezard JP, Colombel JF, Belaiche J, et al. (2002) CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet 70: 845-857.
37. Stuart PE, Nair RP, Ellinghaus E, Ding J, Tejasvi T, et al. (2010) Genome-wide association analysis identifies three psoriasis susceptibility loci. Nat Genet 42: 1000-1004.