Increased frequency of the immunoglobulin enhancer HS1,2 allele 2 in coeliac disease

Scandinavian Journal of Gastroenterology

Volumn 39, Issue 11, 2004, Pages 1083-1087

  Frezza, Domenico ^a   Giambra, V ^b   Cianci, R ^b   Fruscalzo, A ^b   Giufre M ^b   Cammarota, G ^b   Martinez Labarga C ^b   Rickards, O ^b   Scibilia, G ^b   Sferlazzas, C ^b   Bartolozzi, F ^b   Starnino, S ^b   Magazzu G ^b   Gasbarrini, G B ^b   Pandolfi, F ^b  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b NONE

Author keywords

Coeliac disease; Genetic predisposition; Immunoglobulin dysregulation; Immunoglobulin enhancer HS1,2 A; Non HLA factors; Polymorphism

Indexed keywords

ENDOMYSIUM ANTIBODY; GLIADIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; IMMUNOGLOBULIN HEAVY CHAIN;

ADULT; ALLELE; ARTICLE; C ALPHA 1 GENE; CELIAC DISEASE; ENHANCER REGION; FEMALE; GENE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; HEREDITY; HOMOZYGOSITY; HS1 2 A GENE; HUMAN; HUMAN TISSUE; IMMUNE RESPONSE; MAJOR CLINICAL STUDY; MALE; NESTED POLYMERASE CHAIN REACTION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PENETRANCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REGULATOR GENE;

ADULT; CELIAC DISEASE; CHROMOSOMES, HUMAN, PAIR 14; ENHANCER ELEMENTS (GENETICS); FEMALE; GENE FREQUENCY; GENES, IMMUNOGLOBULIN; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; IMMUNOGLOBULIN HEAVY CHAINS; LOCUS CONTROL REGION; MALE; POLYMORPHISM, GENETIC;

EID: 8844224103     PISSN: 00365521     EISSN: None     Source Type: Journal    
DOI: 10.1080/00365520410007999     Document Type: Article

References (19)

1. Sollid LM, Lundin KE. Coeliac disease. An inappropriate immune response. Lancet 2001;358 Suppl:S13.
2. Sollid LM. Molecular basis of celiac disease. Annu Rev Immunol 2000;18:53-81.
3. Greenberg DA, Lange KL. A maximum likelihood test of the two locus model for coeliac disease. Am J Med Genet 1982;12:75-82.
4. Zhong F, McCombs CC, Olson JM, Elston RC, Stevens FM, McCarthy CF, et al. An autosomal screen for genes that pre-dispose to celiac disease in the western counties of Ireland. Nat Genet 1996:14:329-33.
5. King AL, Fraser JS, Moodie SJ, Curtis D, Dearlove AM, Ellis HJ, et al. Coeliac disease: follow-up linkage study provides further support for existence of a susceptibility locus on chromosome 11 p 11. Ann Hum Genet 2001;65:377-86.
6. Karell K, Korponay-Szabo I, Szalai ZS, Holopainen P, Mustalahti K, Collin P, et al. Genetic dissection between coeliac disease and dermatitis herpetiformis in sib pairs. Ann Hum Genet 2002;66:387-92.
7. Collin P, Maki M, Keyrilainen O, Hallstrom O, Reunala T, Pasternack A. Selective IgA deficiency and coeliac disease. Scand J Gastroenterol 1992;27:367-71.
8. Mills FC, Harindranath N, Mitchell M, Max EE. Enhancer complexes located downstream of both human immunoglobulin C alpha genes. J Exp Med 1997;186:845-58.
9. Hu Y, Pan Q, Pardali E, Mills FC, Bernstein RM, Max EE, et al. Regulation of germline promoters by the two human Ig heavy chain 3′ alpha- enhancers. J Immunol 2000;164:6380-6.
10. Chen C, Birshtein BK. Virtually identical enhancers containing a segment of homology to murine 3′ IgH-E (HS 1,2) lie down-stream of human Ig C alpha-1 and C alpha-2 genes. J Immunol 1997;159:1310-8.
11. Pinaud E, Aupetit C, Chauveau C, Cogne M. Identification of a homolog of the C alpha-3′/HS3 enhancer and of an allelic variant of the 3′IgH/HS1,2 enhancer downstream of the human immunoglobulin alpha-1 gene. Eur J Immunol 1997;27:2981-5.
12. Denizot Y, Pinaud E, Aupetit C, Le Morvan C, Magnoux E, Aldigier JC, et al. Polymorphism of the human alpha-1 immunoglobulin gene 3′ enhancer HS1,2 and its relation to gene expression. Immunol 2001;103:35-40.
13. Aupetit C, Drouet M, Pinaud E, Denizot Y, Aldigier JC, Bridoux F, et al. Alleles of the alpha-1 immunoglobulin gene 3′ enhancer control evolution of IgA nephropathy toward renal failure. Kidney Internat 2000;58:966-71.
14. Farrell RJ, Kelly CP. Celiac sprue. N Engl J Med 2002;346:180-5.
15. Begovich AB, Moonsamy PV, Mack SJ, Barcellos LF, Steiner LL, Grams S, et al. Genetic variability and linkage disequilibrium within the HLA-DP region: analysis of 15 different populations. Tissue Antigens 2001;57:424-39.
16. Pinaud E, Khamlichi AA, Le Morvan C, Drouet M, Nalesso V, Le Bert M, et al. Localization of the 3′ IgH locus elements that effect long-distance regulation of class switch recombination. Immunity 2001;15:187-99.
17. Stavnezer J. Molecular processes that regulate class switching. Curr Top Microbiol Immunol 2000;245:127-68.
18. Shanmugam A, Shi MJ, Yauch L, Stavnezer J, Kenter AL. Evidence for class-specific factors in immunoglobulin isotype switching. J Exp Med 2000;191:1365-80.
19. Karin M, Lin A. NF-kappaB at the crossroads of life and death. Nat Immunol 2002;3:221-7.