Remapping the type i diabetes association of the CTLA4 locus

Genes and Immunity

Volumn 10, Issue SUPPL. 1, 2009, Pages

  Qu, H Q ^a,b   Bradfield, J P ^c   Grant, S F A ^c   Hakonarson, H ^c   Polychronakos, C ^a,b  

^a MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Autoimmune disease; CTLA4; genetic susceptibility; linkage disequilibrium; single nucleotide polymorphism; type I diabetes

Indexed keywords

CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; CYTOTOXIC T-LYMPHOCYTE ANTIGEN 4; LEUKOCYTE ANTIGEN;

ARTICLE; GENE LOCUS; GENETIC PREDISPOSITION; GENETICS; HUMAN; IMMUNOLOGY; INSULIN DEPENDENT DIABETES MELLITUS; SINGLE NUCLEOTIDE POLYMORPHISM;

ANTIGENS, CD; DIABETES MELLITUS, TYPE 1; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 75649136609     PISSN: 14664879     EISSN: 14765470     Source Type: Journal    
DOI: 10.1038/gene.2009.88     Document Type: Article

References (24)

1. Alegre M-L, Frauwirth KA, Thompson CB. T-cell regulation by CD28 and CTLA-4. Nat Rev Immunol 2001; 1: 220-228. (Pubitemid 33741960)
2. van der Merwe PA, Bodian DL, Daenke S, Linsley P, Davis SJ. CD80 (B7-1) binds both CD28 and CTLA-4 with a low affinity and very fast kinetics. J Exp Med 1997; 185: 393-403. (Pubitemid 27078358)
3. Ostrov DA, Shi W, Schwartz J-CD, Almo SC, Nathenson SG. Structure of murine CTLA-4 and its role in modulating T cell responsiveness. Science 2000; 290: 816-819.
4. Lee K-M, Chuang E, Griffin M, Khattri R, Hong DK, Zhang W et al. Molecular basis of T cell inactivation by CTLA-4. Science 1998; 282: 2263-2266. (Pubitemid 29004076)
5. Maurer M, Loserth S, Kolb-Maurer A, Ponath A, Wiese S, Kruse N et al. A polymorphism in the human cytotoxic T-lymphocyte antigen 4 ( CTLA4) gene (exon 1 +49) alters T-cell activation. Immunogenetics 2002; 54: 1-8. (Pubitemid 34492947)
6. Kouki T, Sawai Y, Gardine CA, Fisfalen ME, Alegre ML, DeGroot LJ. CTLA-4 Gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves0 disease. J Immunol 2000; 165: 6606-6611.
7. Nistico L, Buzzetti R, Pritchard LE, Van der Auwera B, Giovannini C, Bosi E et al. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian diabetes registry. Hum Mol Genet 1996; 5: 1075-1080. (Pubitemid 26232296)
8. Van Der Auwera BJ, Vandewalle CL, Schuit FC, Winnock F, De Leeuw IH, Van Imschoot S et al. CTLA-4 gene polymorphism confers susceptibility to insulin-dependent diabetes mellitus (IDDM) independently from age and from other genetic or immune disease markers. Clin Exp Immunol 1997; 110: 98-103. (Pubitemid 27428521)
9. Krokowski M, Bodalski J, Bratek A, Machejko P, Caillat-Zucman S. CTLA-4 gene polymorphism is associated with predisposition to IDDM in a population from central Poland. Diabetes Metab 1998; 24: 241-243. (Pubitemid 28290090)
10. Takara M, Komiya I, Kinjo Y, Tomoyose T, Yamashiro S, Akamine H et al. Association of CTLA-4 gene A/G polymorphism in Japanese type 1 diabetic patients with younger age of onset and autoimmune thyroid disease. Diabetes Care 2000; 23: 975-978. (Pubitemid 30480026)
11. Lee Y-J, Huang F-Y, Lo F-S,WangW-C, Hsu C-H, Kao H-A et al. Association of CTLA4 gene A-G polymorphism with type 1 diabetes in Chinese children. Clin Endocrinol 2000; 52: 153-157. (Pubitemid 30108260)
12. Osei-Hyiaman D, Hou L, Zhiyin R, Zhiming Z, Yu H, Amankwah AA et al. Association of a novel point mutation (C159G) of the CTLA4 gene with Type 1 diabetes in West Africans but not in Chinese. Diabetes 2001; 50: 2169-2171. (Pubitemid 33643688)
13. Gough SC. The genetics of Graves' disease. Endocrinol Metab Clin North Am 2000; 29: 255-266. (Pubitemid 30396229)
14. Barreto M, Santos E, Ferreira R, Fesel C, Fontes MF, Pereira C et al. Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus. Eur J Hum Genet 2004; 12: 620-626. (Pubitemid 39172422)
15. Ueda H, Howson JMM, Esposito L, Heward J, Snook, Chamberlain G et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003; 423: 506-511. (Pubitemid 36648570)
16. Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT et al. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature 2007; 448: 591-594. (Pubitemid 47206935)
17. Anjos S, Nguyen A, Ounissi-Benkalha H, Tessier M-C, Polychronakos C. A common autoimmunity predisposing signal peptide variant of the cytotoxic T-lymphocyte antigen 4 results in inefficient glycosylation of the susceptibility allele. J Biol Chem 2002; 277: 46478-46486. (Pubitemid 35417644)
18. Brown WM, Pierce JJ, Hilner JE, Perdue LH, Lohman K, Lu L et al. and the Type I Diabetes Genetics Consortium. Overview of the Rapid Response data. Genes Immun 2009; 10(Suppl 1): S5-S15.
19. Koeleman BPC, Dudbridge F, Cordell HJ, Todd JA. Adaptation of the extended transmission/disequilibrium test to distinguish disease associations of multiple loci: the Conditional Extended Transmission/Disequilibrium Test. Ann Hum Genet 2000; 64: 207-213.
20. Dudbridge F. Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 2003; 25: 115-121. (Pubitemid 37064867)
21. Qin ZS, Niu T, Liu JS. Partition-ligation-expectation-maximization algorithm for haplotype inference with single-nucleotide polymorphisms. Am J Hum Genet 2002; 71: 1242-1247. (Pubitemid 35305248)
22. Patterson N, Price AL, Reich D. Population structure and eigenanalysis. PLoS Genet 2006; 2: e190.
23. 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. (Pubitemid 44141658)
24. Horvath S, Xu X, Laird NM. The family based association test method: strategies for studying general genotype-phenotype associations. Eur J Hum Genet 2001; 9: 301-306. (Pubitemid 32366699)