Erythropoietic protoporphyria
At a minimum, these SNPs are known to be related, and others may also be
EPP is a metabolic disease that causes photosensitivity, and more specifically, a painful skin reaction to sunlight. It is caused by a defect in the Ferrochelatase enzyme (coded for by the FECH gene), the final step in synthesizing heme.
EPP is generally considered to be inherited as an autosomal recessive condition, typically associated with compound heterozygosity. However, inheriting a null allele along with a low-expressing allele can resemble autosomal dominance with incomplete penetrance (according to OMIM).
In late 2014, the European Medicines Agency recommended approval of the peptide drug Scenesse for the treatment of EPP; the manufacturer, Clinuvel, plans to file for approval in the US in 2015 as well as to develop the drug as a repigmentary agent for vitiligo, a condition with far more patients worldwide than EPP.
FECH gene SNPs in SNPedia associated with erythropoietic protoporphyria, and the microarrays testing them when known, include:
| SNP Rs# | Common synonym | On microarray? |
|---|---|---|
| rs3848519 | GLY55CYS | FamilyTreeDNA, 23andMe v4, Ancestry v2c, 23andMe v3, FTDNA2, HumanOmni1Quad, 23andMe v1, 23andMe v2, Illumina Human 1M, Ancestry v2d |
| rs118204037 | MET267ILE | Ancestry v2c, Ancestry v2d |
| rs118204039 | PHE417SER | Ancestry v2, Ancestry v2c, Ancestry v2d |
| rs118204040 | VAL363GLY | Ancestry v2, Ancestry v2c, Ancestry v2d |
| rs267606804 | ASN408LYS, PRO409SER, AND CYS411GLY | Ancestry v2, Ancestry v2c, Ancestry v2d |
| rs2272783 | IVS3AS, T-C, -48 | 23andMe v4, Ancestry v2, Ancestry v2c, 23andMe v3, Affy GenomeWide 6, FTDNA2, HumanOmni1Quad, 23andMe v1, 23andMe v2, Illumina Human 1M, Ancestry v2d |
| rs397514476 | ALA185THR | Ancestry v2, Ancestry v2d |
