Porphyria cutanea tarda, C282Y, H63D and S65C HFE Gene Mutations and Hepatitis C Infection: A Study from Southern France

Chiavérini, C.; Halimi, Gilles; Ouzan, Denis; Halfon, Philippe; Ortonne, Jean-Paul; Lacour, Jean‐Philippe

doi:10.1159/000068895

Cited by 27 publications

(23 citation statements)

References 26 publications

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“…This difference was significant for both C282Y (27.1 vs. 10.1%) and H63D (40.7 vs. 20.3%). Our study confirms that both mutations are risk factors for PCT, whereas a study carried out in southern France only did not find an increased prevalence of H63D [11]. In Montpellier, the rate of C282Y was higher than in controls, but not the rate of H63D [26], whereas patients from Lyon had high rates of both C282Y and H63D [27].…”

Section: Discussionsupporting

confidence: 80%

“…Interestingly, a third HFE mutation, S65C, has been suggested as a possible risk factor [26]. Nevertheless, 2 studies carried out in the south of France failed to show a significant link between S65C and PCT [11, 26]. A more recent hypothesis was that of transferrin receptor 1 genes mutations, but there are still discrepancies in this field.…”

Section: Discussionmentioning

confidence: 99%

“…This has been confirmed by many further studies, but the role of other HFE mutations, i.e. H63D and S65C, is not always significant in PCT [11]. However, a large meta-analysis showed that both major mutations in HFE gene – C282Y and H63D, either homozygous or heterozygous – are associated with an increased risk of developing PCT [12].…”

Section: Introductionmentioning

confidence: 87%

“…Since the discovery of HFE mutations in hemochromatosis, a high prevalence of C282Y mutations has been shown in both sporadic and familial PCT [10,11,12,13]. This has been confirmed by many further studies, but the role of other HFE mutations, i.e.…”

Section: Introductionmentioning

confidence: 87%

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Porphyria Cutanea Tarda, Hepatitis C, Uroporphyrinogen Decarboxylase and Mutations of HFE Gene

Cribier¹,

Chiavérini²,

Dali‐Youcef³

et al. 2008

Dermatology

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Background: Hemochromatosis gene (HFE) mutations and the hepatitis C virus (HCV) are known risk factors for porphyria cutanea tarda (PCT), but interactions with erythrocytic uroporphyrinogen decarboxylase (UROD) have seldom been addressed. Objective: In order toexamine the links between these factors, we conducted a multicentre prospective case-control study. Methods: PCT patients with (n = 32) or without HCV (n = 28) were matched to HCV+ (n = 32) and HCV– controls (n = 28). HFE mutations (C282Y and H63D) were analyzed by PCR. Results: PCT+/HCV+ patients were younger than PCT+/HCV– patients (46.9 vs. 58.2 years, p < 0.001). UROD values were not significantly different in HCV+ and HCV– patients. Both C282Y and H63D were more frequent in PCT+ patients than in controls, but there was no difference in HFE genotype according to HCV seropositivity. Mean UROD was lower in case of HFE mutations in both PCT patients and controls. Conclusion: In French patients, HCV infection is probably the major causal factor of PCT. It is not linked with HFE mutations, although they are significantly associated with PCT. A low erythrocytic UROD might be a predisposing factor. The UROD value was lower in patients with HFE mutations, suggesting a possible interaction between HFE genotype and UROD levels.

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Section: Discussionsupporting

confidence: 80%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 87%

Section: Introductionmentioning

confidence: 87%

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Porphyria Cutanea Tarda, Hepatitis C, Uroporphyrinogen Decarboxylase and Mutations of HFE Gene

Cribier¹,

Chiavérini²,

Dali‐Youcef³

et al. 2008

Dermatology

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“…An increased frequency of the haemochromatosis gene (HFE) C282Y mutation in patients with PCT has been widely reported (3)(4)(5)(6). The association between the H63D mutation and PCT has also been described in studies from the Mediterranean area (7,8).…”

mentioning

confidence: 97%

Haemochromatosis Gene Mutations and Response to Chloroquine in Sporadic Porphyria Cutanea Tarda

Toll¹,

Celis²,

Ozalla³

et al. 2006

Acta Derm Venereol

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Porphyria Diagnostics—Part 1: A Brief Overview of the Porphyrias

2015

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The porphyria diseases are a group of metabolic disorders caused by abnormal functioning of heme biosynthesis enzymes and characterized by the excessive accumulation and excretion of porphyrins and their precursors. Precisely which of these chemicals builds up depends on the type of porphyria. Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), delta-aminolevelunic acid dehyratase deficiency porphyria (ADP), porphyria cutanea tarda (PCT), hepatoerythropoetic porphyria (HEP), congenital erythropoetic porphyria (CEP), erythropoetic protoporphyria (EPP), and X-linked protoporphyria (XLP). Each porphyria results from overproduction of heme precursors secondary to partial deficiency or, in XLP, increased activity of one of the enzymes of heme biosynthesis. Taken together, all forms of porphyria afflict fewer than 200,000 people in the United States. Based on European studies, the prevalence of the most common porphyria, PCT, is 1 in 10,000, the most common acute porphyria, AlP, is about 1 in 20,000, and the most common erythropoietic porphyria, EPP, is estimated at 1 in 50,000 to 75,000. CEP is extremely rare with prevalence estimates of 1 in 1,000,000 or less. Only 6 cases of ADP are documented. The current porphyria literature is very exhaustive and a brief overview of porphyria diseases is essential in order for the reader to better appreciate the relevance of this area of research prior to undertaking biochemical diagnostics procedures. This unit summarizes the current knowledge on the classification, clinical features, etiology, pathogenesis, and genetics of these porphyria diseases.

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Porphyria cutanea tarda, C282Y, H63D and S65C HFE Gene Mutations and Hepatitis C Infection: A Study from Southern France

Cited by 27 publications

References 26 publications

Porphyria Cutanea Tarda, Hepatitis C, Uroporphyrinogen Decarboxylase and Mutations of HFE Gene

Porphyria Cutanea Tarda, Hepatitis C, Uroporphyrinogen Decarboxylase and Mutations of HFE Gene

Haemochromatosis Gene Mutations and Response to Chloroquine in Sporadic Porphyria Cutanea Tarda

Porphyria Diagnostics—Part 1: A Brief Overview of the Porphyrias

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