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ERAP1

HGNC:18173 5q15 MIM.606832

Tuesday 29 November 2011

Genetic variation of the antigen processing machinery (APM) components TAP2, LMP7, and ERAP1 is related to cervical carcinoma risk, although the relation with expression and clinical outcome remains unknown.

The location of the ERAP1-127 SNP in the peptidase M1 domain of the ERAP1 aminopeptidase suggests the possibility of direct functional consequences of variation at this locus.

Pathology

- cervical peidermoid carcinoma (cervical cancer)

  • Genetic variation in APM component genes, particularly ERAP1, is an important contributing factor in cervical carcinogenesis, progressive tumor growth and survival.

- Genome-wide association analysis identifies new susceptibility loci for Beh├žet’s disease and epistasis between HLA-B*51 and ERAP1. doi : 10.1038/ng 2520

References

- Single nucleotide polymorphisms in antigen processing machinery component ERAP1 significantly associate with clinical outcome in cervical carcinoma. Mehta AM, Jordanova ES, Corver WE, van Wezel T, Uh HW, Kenter GG, Jan Fleuren G. Genes Chromosomes Cancer. 2009 May;48(5):410-8. PMID: 19202550