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Titolo:
Contribution of different HFE genotypes to iron overload disease: a pooledanalysis
Autore:
Burke, W; Imperatore, G; McDonnell, SM; Baron, RC; Khoury, MJ;
Indirizzi:
Univ Washington, Dept Med Hist & Eth, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 ed Hist & Eth, Seattle, WA 98195 USA Univ Washington, Dept Med, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 ton, Dept Med, Seattle, WA 98195 USA Ctr Dis Control & Prevent, Natl Ctr Chron Dis Prevent & Hlth Promot, Atlanta, GA USA Ctr Dis Control & Prevent Atlanta GA USA & Hlth Promot, Atlanta, GA USA Ctr Dis Control & Prevent, Epidemiol Program Off, Atlanta, GA USA Ctr Dis Control & Prevent Atlanta GA USA ol Program Off, Atlanta, GA USA Ctr Dis Control & Prevent, Off Genet & Dis Prevent, Atlanta, GA USA Ctr Dis Control & Prevent Atlanta GA USA & Dis Prevent, Atlanta, GA USA
Titolo Testata:
GENETICS IN MEDICINE
fascicolo: 5, volume: 2, anno: 2000,
pagine: 271 - 277
SICI:
1098-3600(200009/10)2:5<271:CODHGT>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
CELL-SURFACE EXPRESSION; HEREDITARY HEMOCHROMATOSIS; PHENOTYPIC-EXPRESSION; GENERAL-POPULATION; HLA-H; MUTATIONS; PREVALENCE; BETA(2)-MICROGLOBULIN; DIAGNOSIS; CYS282TYR;
Keywords:
hemochromatosis; iron overload; HFE gene; C282Y mutation; H63D mutation; penetrance;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
42
Recensione:
Indirizzi per estratti:
Indirizzo: Burke, W Univ Washington, Dept Med Hist & Eth, Box 357120,1959 NE Pacific,Room A204, Seattle, WA 98195 USA Univ Washington Box 357120,1959 NE Pacific,Room A204 Seattle WA USA 98195
Citazione:
W. Burke et al., "Contribution of different HFE genotypes to iron overload disease: a pooledanalysis", GENET MED, 2(5), 2000, pp. 271-277

Abstract

Purpose: To determine the contribution of the C282Y and H63D mutations in the HFE gene to clinical expression of hereditary hemochromatosis. Methods:Pooled analysis of 14 case-control studies reporting HFE genotype data, toevaluate the association of different HFE genotypes with iron overload. Inaddition, we used data from the pooled analysis and published data to estimate the penetrance of the C282Y/C282Y genotype. Results: Homozygosity for the C282Y mutation carried the largest risk for iron overload (OR = 4383, 95% CI 1374 to >10,000) and accounted for the majority of hemochromatosis cases (attributable fraction (AF) = 0.73). Risks for other genotypes were much smaller: OR = 32 for genotype C282Y/H63D (95% CI 18.5 to 55.4, AF = 0.06); OR = 5.7 for H63D/H63D (95% CI 3.2 to 10.1, AF = 0.01); OR = 4.1 for C282Y heterozygosity (95% CI 2.9 to 5.8, with heterogeneity in study results, making this association uncertain); and OR = 1.6 for H63D heterozygosity (95% CI 1 to 2.6, AF = 0.03). Estimates of penetrance for the C282Y/C282Y genotype were highly sensitive to estimates of the prevalence of iron overload disease. At a prevalence of 2.5 per 1000 or less, penetrance of the C282Y/C282Y genotype is unlikely to exceed 50%. Penetrance of other HFE genotypes is much lower. Conclusions: C282Y homozygosity confers the highest risk foriron overload but the H63D mutation is also associated with increased risk. Our data indicate a gradient of risk associated with different HFE genotypes and thus suggest the presence of other modifiers, either genetic or environmental, that contribute to the clinical expression of hemochromatosis.

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Documento generato il 11/07/20 alle ore 21:07:16