ArticleAmerican journal of human genetics2006
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.
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Who cites it
63 citing papers in PubMed, 1 synthesis or guideline pooled it, 183 citations in OpenAlex.
- The CommonDiabetes · 2018Pooled it
- Afamelanotide for Erythropoietic Protoporphyria.The New England journal of medicine · 2015Trial
- Acquired Erythropoietic Protoporphyria Associated With Myelodysplastic Syndrome: A "Two-Hit" Mechanism Involving 18q21 Abnormality.The Journal of dermatology · 2026Article
- Understanding the Clinical Spectrum of the Cutaneous and Acute Hepatic Porphyrias.American journal of clinical dermatology · 2026Review
- Homozygous variegate porphyria: Two cases misdiagnosed as erythropoietic protoporphyria.Molecular genetics and metabolism reports · 2026Article
- Key role of Levitt's carbon monoxide breath test in revealing coexistent Gilbert syndrome and erythropoietic protoporphyria: A case report.World journal of clinical cases · 2026Article
- Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review.Orphanet journal of rare diseases · 2025Review
- Haematological parameters in erythropoietic protoporphyria: A multi-national study.British journal of haematology · 2025Article
- Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management.Liver international : official journal of the International Association for the Study of the Liver · 2025Review
- Article
- Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria.Journal of the American Academy of Dermatology · 2023Article
- Peptide Conjugates of a 2'-ACS omega · 2023Article
- Article
- An Enigmatic Case of Jaundice and Photosensitivity in an Adolescent.ACG case reports journal · 2023Article
- Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria: A case report.Liver research (Beijing, China) · 2022Article
- Future Perspectives in Oxidative Stress in Trisomy 13 and 18 Evaluation.Journal of clinical medicine · 2022Review
- Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients.Frontiers in physiology · 2022Article
- A Case Series of Pediatric Intestinal Ganglioneuromatosis With Novel Phenotypic and Genotypic Profile.Frontiers in medicine · 2022Article
- Porphyrias in the Age of Targeted Therapies.Diagnostics (Basel, Switzerland) · 2021Review
- Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain-a patient-reported outcome efficacy measure.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
3 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Erythropoietic protoporphyria (EPP) is an inherited disorder of heme biosynthesis that results from a partial deficiency of ferrochelatase (FECH). Recently, we have shown that the inheritance of the common hypomorphic IVS3-48C allele trans to a deleterious mutation reduces FECH activity to below a critical threshold and accounts for the photosensitivity seen in patients. Rare cases of autosomal recessive inheritance have been reported. We studied a cohort of 173 white French EPP families and a group of 360 unrelated healthy subjects from four ethnic groups. The prevalences of the recessive and dominant autosomal forms of EPP are 4% (95% confidence interval 1-8) and 95% (95% confidence interval 91-99), respectively. In 97.9% of dominant cases, an IVS3-48C allele is co-inherited with the deleterious mutation. The frequency of the IVS3-48C allele differs widely in the Japanese (43%), southeast Asian (31%), white French (11%), North African (2.7%), and black West African (<1%) populations. These differences can be related to the prevalence of EPP in these populations and could account for the absence of EPP in black subjects. The phylogenic origin of the IVS3-48C haplotypes strongly suggests that the IVS3-48C allele arose from a single recent mutational event. Estimation of the age of the IVS3-48C allele from haplotype data in white and Asian populations yields an estimated age three to four times younger in the Japanese than in the white population, and this difference may be attributable either to differing demographic histories or to positive selection for the IVS3-48C allele in the Asian population. Finally, by calculating the KA/KS ratio in humans and chimpanzees, we show that the FECH protein sequence is subject to strong negative pressure. Overall, EPP looks like a Mendelian disorder, in which the prevalence of overt disease depends mainly on the frequency of a single common single-nucleotide polymorphism resulting from a unique mutational event that occurred 60,000 years ago.
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