The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients

Stuart, Katherine; Busfield, Frances; Jazwinska, Elizabeth C.; Gibson, Peter R.; Butterworth, L. A.; Cooksley, W. G. E.; Powell, Lawrie W.; Crawford, Darrell H. G.

doi:10.1016/s0168-8278(98)80313-9

Cited by 117 publications

(95 citation statements)

References 30 publications

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“…Roberts et al 4 found the C282Y mutation in 18 of 41 (44%) British patients with SPCT, 7 of whom (17%) were homozygous. Australian porphyria cutanea tarda (PCT) patients were studied by Stuart et al, 5 and the C282Y mutation was detected in 12 of 27 individuals (44%). Both studies failed to establish an association between SPCT and the H63D mutation.…”

Section: C282y and H63d Mutations In The Hfe Gene Are Not Associatedmentioning

confidence: 99%

“…A role for genetic hemochromatosis in the pathogenesis of iron overload in PCT has been also suggested, 3 and high association of HFE and PCT has been reported in Italian 4 as well as in British patients. 5 Although HH is common in populations of Northern European origin, with frequency of 1 of 200 to 1 of 300, 6 it is rare in African, Asian, and Australian populations. 6 We studied the occurrence of the 2 HFE mutations (C282Y and H63D) in Japanese patients with PCT.…”

Section: C282y and H63d Mutations In The Hfe Gene Are Not Associatedmentioning

confidence: 99%

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C282Y and H63D mutations in the HFE gene are not associated with porphyria cutanea tarda in bulgaria

et al. 1999

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Section: C282y and H63d Mutations In The Hfe Gene Are Not Associatedmentioning

confidence: 99%

Section: C282y and H63d Mutations In The Hfe Gene Are Not Associatedmentioning

confidence: 99%

C282Y and H63D mutations in the HFE gene are not associated with porphyria cutanea tarda in bulgaria

et al. 1999

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“…Existe una importante variedad geográfica en la prevalencia de la infección por el VHC en pacientes con PCT, con elevadas tasas en países mediterráneos y Sudamérica (70-90%) (4,(10)(11)(12), baja o intermedia (0-44%) en Europa Central y del Norte y en Australia (13)(14)(15)(16)(17). En Norteamérica, encontraron su asociación con el VHC en el 56% de los pacientes (18).…”

Section: Discussionunclassified

“…(18) encontraron en Norteamérica que el 73% de los pacientes con PCT tenían una o más mutaciones en el gen HFE (23% heterocigotos, 19% homocigotos C282Y; para H63D 23% heterocigotos y 8% homocigotos). Se han publicado hallazgos similares por otros autores (16,(26)(27)(28). En contraste Sampietro y cols.…”

Section: Discussionunclassified

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Porfiria cutánea tarda: asociación con mutaciones HFE, hepatitis virales, alcohol y otros factores de riesgo en Guipúzcoa, País Vasco

Castiella¹,

Zapata²,

Juan

et al. 2008

Rev. esp. enferm. dig.

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RESUMENObjetivo: estudiar la frecuencia de las mutaciones en el gen HFE (C282Y, H63D, S65C) en un grupo de 54 pacientes con porfiria cutánea tarda (PCT) y en un grupo de controles sanos (donantes de sangre) en Guipúzcoa. También analizar su relación con los virus de la hepatitis B y C (VHB, VHC), alcohol y otros factores de riesgo reconocidos.Métodos: el análisis de las mutaciones se hizo mediante PCR. Se compararon las frecuencias alélicas y genotípicas. Se determinaron la probabilidad y el test de Chi cuadrado.Resultados: no encontramos asociación entre C282Y y PCT (5,76 vs. 5% controles). Se observó una alta frecuencia alélica en la mutación H63D en PCT (34,25%), pero sin ser estadísticamen-te significativa (controles 29,31%), debido a la alta prevalencia de esta mutación en la población vasca. La mutación S65C fue menor en PCT que en controles. Encontramos una idéntica presencia de H63D en heterocigosis en ambos grupos (38,8 vs. 38,8%). La asociación con el VHC se objetivó en el 35,18% de los pacientes y la infección por VHB en el 7,4%. Un 55,55% de los pacientes tenía un hábito alcohólico de más de 60 g etanol día. Todos eran negativos para el virus de la inmunodeficiencia humana (VIH) y 1 de las 5 mujeres con PCT tomaba estrógenos.Conclusión: las mutaciones C282Y y H63D no tienen un papel relevante en los pacientes con PCT en Guipúzcoa. Los factores externos (consumo importante de alcohol y VHC) parecen jugar un papel fundamental en el desarrollo de la PCT en nuestra población.Palabras clave: Porfiria cutánea tarda. Enfermedades hepáticas. Gen HFE. ABSTRACTAim: to study the frequency of HFE gene mutations (C282Y, H63D, S65C) in a group of 54 sporadic PCT patients and in a group of healthy controls (blood donors) from Guipúzcoa, Spain. We studied the association of PCT with HCV, HBV, alcohol abuse, and other established risk factors.Methods: the analysis of mutations was made by PCR. Allelic and genotypic frequencies were compared. Probability was determined and a Chi-squared test was performed.Results: no association was observed between C282Y mutation and PCT (5.76 vs. 5% in controls). A high H63D mutation frequency was observed in PCT (34.25%) but was not statistically significant (controls 29.31%) because of the high prevalence of this mutation in the Basque general population. The S65C mutation was lower in PCT than in controls. There is a similar presence for H63D heterozygosis in PCT (38.8 vs. 38.8%). HCV association was observed in 35.18% of patients with PCT. HBV infected 7.4% of patients. Heavy alcohol intake (> 60 g/day) was present in 55.55% of patients. No HIV-infected patients were detected. The study of other risk factors revealed only one of the five women with PCT taking estrogens.Conclusion: our results found no relevant role for C282Y and H63D mutations. External factors such as HCV and alcohol could be determinant in the development of PCT in the Basque population.

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Hemochromatosis (HFE) Gene Mutations and Response to Chloroquine in Porphyria Cutanea Tarda

Stölzel¹,

Köstler²,

Schuppan³

et al. 2003

Arch Dermatol

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The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients

Cited by 117 publications

References 30 publications

C282Y and H63D mutations in the HFE gene are not associated with porphyria cutanea tarda in bulgaria

C282Y and H63D mutations in the HFE gene are not associated with porphyria cutanea tarda in bulgaria

Porfiria cutánea tarda: asociación con mutaciones HFE, hepatitis virales, alcohol y otros factores de riesgo en Guipúzcoa, País Vasco

Hemochromatosis (HFE) Gene Mutations and Response to Chloroquine in Porphyria Cutanea Tarda

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