Association between the MHC class I gene HFE polymorphisms and longevity: A study in Sicilian population

Genes and Immunity

Volumn 3, Issue 1, 2002, Pages 20-24

  Lio, D ^a   Balistreri, C R ^a   Colonna Romano, G ^a   Motta, M ^b   Franceschi, C ^c,d   Malaguarnera, M ^b   Candore, G ^a   Caruso, C ^a  

^a UNIVERSITY OF PALERMO   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d INRCA   (Italy)

Author keywords

Centenarians; HFE; HLA; Immune response; Longevity

Indexed keywords

HFE PROTEIN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; PRIMER DNA; HFE PROTEIN, HUMAN; HLA ANTIGEN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA POLYMORPHISM; ENVIRONMENTAL FACTOR; FEMALE; GENDER; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; HEREDITY; HETEROZYGOSITY; HUMAN; IRON INTAKE; ITALY; LIFESPAN; LONGEVITY; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEX DIFFERENCE; STATISTICAL SIGNIFICANCE; ALLELE; COMPARATIVE STUDY; GENE; GENETIC POLYMORPHISM; GENETICS; HAPLOTYPE; MIDDLE AGED;

POMACANTHUS MACULOSUS;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; FEMALE; GENE FREQUENCY; GENES, MHC CLASS I; HAPLOTYPES; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; LONGEVITY; MALE; MEMBRANE PROTEINS; MIDDLE AGED; POLYMORPHISM, GENETIC; SICILY;

EID: 0036484319     PISSN: 14664879     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.gene.6363823     Document Type: Article

References (50)

1. Candore G, Lio D, Colonna Romano G, Caruso C. Pathogenesis of autoimmune diseases associated with 8.1 ancestral haplotype: effect of multiple gene interactions. Autoimmun Rev 2002; 1: (in press).
2. Caruso C, Candore G, Colonna Romano G et al. Immunogenetics of longevity. Is major histocompatibility complex polymorphism relevant to the control of human longevity? A review of literature data. Mech Ageing Dev 2001; 122: 445-462.
3. Feder JN, Gnirke A, Thomas W et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13: 399-408.
4. Klein J, Sato A. The HLA system. Second of two parts. N Engl J Med 2000; 343: 782-790.
5. Salter-Cid L, Brunmark A, Peterson PA, Yang Y. The major histocompatibility complex-encoded class I-like HFE abrogates endocytosis of transferrin receptor by inducing receptor phosphorylation. Genes Immun 2000; 1: 409-417.
6. Salter-Cid L, Peterson PA, Yang Y. The major histocompatibility complex-encoded HFE in iron homeostasis and immune function. Immunol Res 2000; 22: 43-59.
7. Oppenheimer SJ. Iron and its relation to immunity and infectious disease. J Nutr 2001; 131: 616S-633S.
8. Kuvibidila SR, Porretta C, Baliga BS. Iron deficiency alters the progression of mitogen-treated murine splenic lymphocytes through the cell cycle. J Nutr 2001; 131: 2028-2033.
9. Waheed A, Parkkila S, Zhou XY et al. Hereditary hemochromatosis effects of C282Y and H63D mutations on association with beta-2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc Nat Acad Sci 1997; 94: 12384-12389.
10. Bassett ML, Halliday JW, Brittenham GM. Genetic haemochromatosis. Sem Liver Dis 1994; 4: 217-227.
11. Mura C, Raguenes O, Ferec C. HFE mutations analysis in 711 hemochromatosis probands evidence for S65C implication in mild form of hemochromatosis. Blood 1999; 1593: 2502-2505.
12. Rochette J, Pointon J, Fisher J et al. Multicentric origin of hemochromatosis gene (HFE) mutations. Am J Hum Genet 1999; 64: 1056-1062.
13. Campo S, Restuccia T, Villari D et al. Analysis of haemochromatosis gene mutations in a population from the Mediterranean Basin. Liver 2001; 21: 233-236.
14. Chang JG, Liu TC, Lin SF. Rapid diagnosis of the HLA-H gene Cys 282 Tyr mutation in hemochromatosis by polymerase chain reaction a very rare mutation in the Chinese population. Blood 1997; 89: 3492-3493.
15. Fabrega E, Castro B, Sanchez-Castro L, Benito A, Fernandez-Luna JL, Pons-Romero F. The prevalence of the Cys282Tyr mutation in the hemocromatosis gene in Cantabiria in patients diagnosed with hereditary hemochromatosis. Med Clin (Barc) 1999; 112: 451-453.
16. Hallberg L, Bjorn-Rasmussen E, Jungner I. Prevalence of hereditary hemochromatosis in two Swedish urban areas. J Intern Med 1989; 225: 249-255.
17. Jonsson JJ, Johannesson GM, Sigfusson N, Magnusson B, Thjodleiffson B, Magnusson S. Prevalence of iron deficiency and iron overload in the adult Icelandic population. J Clin Epidemiol 1991; 44: 1289-1297.
18. Karlsson M, Ikkala E, Reunanen A, Takkunen H, Vuori E, Makinen J. Prevalence of hemochromatosis in Finland. Acta Med Scand 1988; 224: 385-390.
19. Papanikolaou G, Politou M, Terpos E, Fourlemadis S, Sakellaropoulos N, Loukopoulos D. Hereditary hemochromatosis HFE mutation analysis in Greeks reveals genetic heterogeneity. Blood Cells Mol Dis 2000; 26: 163-168.
20. Pozzato G, Zorat F, Nascimben F et al. Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry. Eur J Hum Genet 2001; 9: 445-451.
21. Ryan E, O'Keane C, Crowe J. Hemochromatosis in Ireland and HFE. Blood Cells Molecules Dis 1998; 24: 428-432.
22. Smith BN, Kantrowitz W, Grace ND et al. Prevalence of hereditary hemochromatosis in a Massachusetts Corporation is Celtic origin a risk factor? Hepatology 1997; 25: 1439-1446.
23. Sohda T, Yanai J, Soejima H, Tamura K. Frequencies in the Japanese population of HFE gene mutations. Biochem Genet 1999; 37: 63-68.
24. Velati C, Piperno A, Fargion S, Colombo S, Fiorelli G. Prevalence of idiopathic hemochromatosis in Italy study of 1301 blood donors. Haematologica 1990; 74: 525-530.
25. Dawkins R, Leelayuwat C, Gaudieri S et al. Genomics of the major histocompatibility complex: haplotypes, duplication, retroviruses and disease. Immunol Rev 1999; 167: 275-304.
26. Simon M, Alexandre JL, Fauchet R, Genetet B, Bourel M. The genetics of hemochromatosis. Prog Med Genet 1980; 4: 135-168.
27. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJH. Global prevalence of putative haemochromatosis mutations. J Med Genet 1997; 34: 275-278.
28. Remacha AF, Barcelo MJ, Sarda MP, Blesa I, Altes A, Baiget M. The S65C mutation in Spain. Implications for iron overload screening. Haematologica 2000; 85: 1324-1325.
29. Oberkanins C, Moritz A, de Villiers JN, Kotze MJ, Kury F. A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations. Genet Test 2000; 4: 121-124.
30. Camaschella C, Roetto A, Cali A et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 2000; 25: 14-15.
31. Conte D, Manachino D, Colli A et al. Prevalence of genetic hemochromatosis in a cohort of Italian patients with diabetes mellitus. Ann Intern Med 1998; 128: 370-373.
32. Fargion S, Fracanzani AL, Romano R et al. Genetic hemochromatosis in Italian patients with porphyria cutanea tarda possible explanation for iron overload. J Hepatol 1996; 24: 564-569.
33. Sampietro M, Caputo L, Casatta A et al. The hemochromatosis gene affects the age of onset of sporadic Alzheimer's disease. Neurobiol Aging 2001; 22: 563-568.
34. Moalem S, Percy ME, Andrews DF et al. Are hereditary hemochromatosis mutations involved in Alzheimer disease? Am J Med Genet 2000; 393: 58-66.
35. Bulaj ZJ, Griffen LM, Jorde LB, Edwards CQ, Kushner JP. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med 1996; 335: 1799-1805.
36. Beutler E, Felitti V, Gelbart T, Ho N. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann Intern Med 2000; 133: 329-337.
37. Collins HL, Kaufmann SHE. The many faces of host responses to tuberculosis. Immunology 2001; 103: 1-9.
38. Herskind AM, Mcgue M, HoIm NV, Sorensen TIA, Harvald B, Vaupel JW. The heritability of human longevity a population-based study of 2872 Danish twin pairs born 1870-1900. Hum Genet 1996; 97: 319-323.
39. Ljungquist B, Berg S, Lanke J, McClearn GE, Pedersen NL. The effect of genetic factors for longevity a comparison of identical and fraternal twins in the Swedish Twin Registry. J Gerontol A Biol Sci Med Sci 1998; 53: M441-M446.
40. Schachter F, Cohen D, Kirkwood T. Prospects for the genetics of human longevity. Hum Genet 1993; 91: 519-526.
41. Mack Smith D. A history of Sicily. Medieval Sicily 800-1713. Modern Sicily after 1713. Chatto and Windus: London, 1968.
42. Robine JM, Kiirkwood TBL, Allard M. Sex and Longevity. Sexuality, Gender, Reproduction, Parenthood. Springer-Verlag: Berlin, 2001.
43. Franceschi C, Motta L, Valensin S et al. Do men and women follow different trajectories to reach extreme longevity? Italian Multicenter Study on Centenarians. Aging (Milan) 2000; 12: 77-84.
44. Bonafè M, Olivieri F, Cavallone L et al. A gender-dependent genetic predisposition to produce high levels of IL-6 is detrimental for longevity. Eur J Immunol 2001; 31: 2357-2361.
45. Lio D, Scola L, Crivello A et al. Allele frequencies of +874T→A single nucleotide polymorphism at the first intron of Interferon-γ gene in a group of Italian centenarians. Exper Gerontol 2002; 37: (in press).
46. Lio D, Scola L, Crivello A et al. Gender-specific association between -1082 IL-10 promoter polymorphism and longevity. Genes Immun 2002; 3: 30-33.
47. Shorter E. A History of Women's Bodies. Basic Books, Inc: New York, 1982.
48. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acid Res 1988; 16: 1215.
49. Takeuchi T, Soejima H, Faed JM, Yun K. Efficient large-scale screening for the hemochromatosis susceptibility gene mutation. Blood 1997; 90: 2848-2849.
50. Mullighan CG, Bunce M, Fanning GC, Marshall SE, Welsh KI. A rapid method of haplotyping HFE mutations and linkage disequilibrium in a Caucasoid population. Gut 1998; 42: 566-569.