Analysis of CARD15/NOD2 haplotypes fails to identify common variants associated with rheumatoid arthritis susceptibility

Scandinavian Journal of Rheumatology

Volumn 34, Issue 3, 2005, Pages 198-203

  Addo, A ^a   Le, J ^a   Li, W ^b   Aksentijevich, I ^a   Balow Jr , J ^a   Lee, A ^b   Gregersen, P K ^b   Kastner, D L ^a   Remmers, Elaine F ^a,c  

^a NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^b Institute for Medical Research at North Shore LIJ   (United States)

^c MSC 0908 ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BACTERIUM LIPOPOLYSACCHARIDE; CASPASE RECRUITMENT DOMAIN PROTEIN 15; GENE PRODUCT; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; MURAMYL DIPEPTIDE;

ADULT; ARTICLE; CARD15 GENE; CAUCASIAN; CONTROLLED STUDY; CROHN DISEASE; DISEASE ASSOCIATION; ETHNIC GROUP; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE STRUCTURE; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; IMMUNE RESPONSE; MAJOR CLINICAL STUDY; MONOCYTE; NOD2 GENE; PRIORITY JOURNAL; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; ARTHRITIS, RHEUMATOID; EUROPEAN CONTINENTAL ANCESTRY GROUP; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; NOD2 SIGNALING ADAPTOR PROTEIN; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 22144433735     PISSN: 03009742     EISSN: None     Source Type: Journal    
DOI: 10.1080/03009740510018561     Document Type: Article

References (31)

1. Wilder RL. Rheumatoid arthritis: Epidemiology, pathology, and pathogenesis. In Schumacher RHJ, Klippel JH, Koopman WJ, editors. Primer on the rheumatic diseases. The Arthritis Foundation: Atlanta, 1993: 86-9.
2. MacGregor AJ, Snieder H, Rigby AS, et al. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins. Arthritis Rheum 2000;43:30-7.
3. Gregersen PK, Silver J, Winchester RJ. The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Arthritis Rheum 1987;30:1205-13.
4. Jawaheer D, Li W, Graham RR, et al. Dissecting the genetic complexity of the association between human leukocyte antigens and rheumatoid arthritis. Am J Hum Genet 2002;71:585-94.
5. Pascual M, Mataran L, Jones G, et al. HLA haplotypes and susceptibility to rheumatoid arthritis. More than class II genes. Scand J Rheumatol 2002;31:275-8.
6. Singal DP, Li J, Zhu Y. HLA class III region and susceptibility to rheumatoid arthritis. Clin Exp Rheumatol 2000;18: 485-91.
7. Zanelli E, Jones G, Pascual M, et al. The telomeric part of the HLA region predisposes to rheumatoid arthritis independently of the class II loci. Hum Immunol 2001;62:75-84.
8. Mulcahy B, Waldron-Lynch F, McDermott MF, et al. Genetic variability in the tumor necrosis factor-lymphotoxin region influences susceptibility to rheumatoid arthritis. Am J Hum Genet 1996;59:676-83.
9. Lee YH, Choi SJ, Ji JD, Song GG. No association of polymorphisms of the CTLA-4 exon 1(+49) and promoter(-318) genes with rheumatoid arthritis in the Korean population. Scand J Rheumatol 2002;31:266-70.
10. Fisher SA, Lanchbury JS, Lewis CM. Meta-analysis of four rheumatoid arthritis genome-wide linkage studies: confirmation of a susceptibility locus on chromosome 16. Arthritis Rheum 2003;48:1200-6.
11. Miceli-Richard C, Lesage S, Rybojad M, et al. CARD15 mutations in Blau syndrome. Nat Genet 2001;29:19-20.
12. Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001;411:603-6.
13. Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001;411:599-603.
14. Gravallese EM, Kantrowitz FG. Arthritic manifestations of inflammatory bowel disease. Am J Gastroenterol 1988; 83:703-9.
15. Rahman P, Bartlett S, Siannis F, et al. CARD15: a pleiotropic autoimmune gene that confers susceptibility to psoriatic arthritis. Am J Hum Genet 2003;73:677-81.
16. Lin JP, Cash JM, Doyle SZ, et al. Familial clustering of rheumatoid arthritis with other autoimmune diseases. Hum Genet 1998;103:475-82.
17. Mathew CG, Lewis CM. Genetics of inflammatory bowel disease: progress and prospects. Hum Mol Genet 2004;13 Spec No 1:R161-8.
18. Steer S, Fisher SA, Fife M, et al. Development of rheumatoid arthritis is not associated with two polymorphisms in the Crohn's disease gene CARD15. Rheumatology (Oxford) 2003;42:304-7.
19. Cuthbert AP, Fisher SA, Mirza MM, et al. The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. Gastroenterology 2002;122:867-74.
20. Lesage S, Zouali H, Cezard JP, et al. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet 2002;70:845-57.
21. Vermeire S, Wild G, Kocher K, et al. CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure. Am J Hum Genet 2002;71:74-83.
22. Sasieni PD. From genotypes to genes: doubling the sample size. Biometrics 1997;53:1253-61.
23. Jawaheer D, Seldin MF, Amos CI, et al. A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases. Am J Hum Genet 2001;68:927-36.
24. Jawaheer D, Seldin MF, Amos CI, et al. Screening the genome for rheumatoid arthritis susceptibility genes: a replication study and combined analysis of 512 multicase families. Arthritis Rheum 2003;48:906-16.
25. Stephens M, Donnelly P. A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003;73:1162-9.
26. Schneider S, Roessli D, Excoffier L. Arlequin version 2.000: a software for population genetic data analysis. Genetics and Biometry Laboratory, University of Geneva, Geneva, Switzerland, 1997, 111.
27. Lewontin RC. The interactions of selection and linkage. I. General considerations; heterotic models. Genetics 1964; 49:49-67.
28. Lewontin RC. On measures of gametic disequilibrium. Genetics 1988;120:849-52.
29. Abecasis GR, Cookson WO. GOLD - graphical overview of linkage disequilibrium. Bioinformatics 2000;16:182-3.
30. Qin ZS, Niu T, Liu JS. Partition-ligation-expectation-maximization algorithm for haplotype inference with single-nucleotide polymorphisms. Am J Hum Genet 2002; 71:1242-7.
31. Satagopan JM, Elston RC. Optimal two-stage genotyping in population-based association studies. Genet Epidemiol 2003;25:149-57.