IngentaConnect Melanocortin 1 receptor (MC1R) genotype influences erythemal sens...

Authors: Smith, G.; Wilkie, M.J.V.; Deeni, Y.Y.; Farr, P.M.¹; Ferguson, J.¹; Wolf, C.R.; Ibbotson, S.H.²

Source: British Journal of Dermatology, Volume 157, Number 6, December 2007 , pp. 1230-1234(5)

Abstract:

Summary Background

The melanocortin 1 receptor (MC1R) is a highly polymorphic G protein-coupled receptor. Inheritance of various MC1R alleles has been associated with a red hair/fair skin phenotype, increased incidence of skin cancer and altered sensitivity to ultraviolet (UV) radiation. Objectives

To investigate whether MC1R genotype influences erythemal sensitivity to psoralen-UVA photochemotherapy (PUVA) in patients with psoriasis and other common skin diseases. Methods

Patients (n = 111) about to start PUVA were recruited to the study. Erythemal responses were assessed visually at 72 h and 96 h following PUVA by assessment of the minimal phototoxic dose (MPD). MC1R genotype was determined by direct sequencing. Results

Inheritance of the MC1R Arg₁₅₁Cys allele was associated with a red hair phenotype (odds ratio 25·19, P = 0·0004). In contrast, inheritance of the Val₆₀Leu and Arg₁₆₃Gln SNPs was associated with increased PUVA erythemal sensitivity (reduced MPD) 72 h following treatment in all patients (n = 111; Val₆₀Leu χ² = 5·764, P = 0·016; Arg₁₆₃Gln χ² = 5·469, P = 0·019) and in a subset of patients with psoriasis (n = 55; Val₆₀Leu χ² = 4·534, P = 0·033; Arg₁₆₃Gln χ² = 7·298, P = 0·007). Inheritance of two or more MC1R SNPs was also associated with increased PUVA erythemal sensitivity (reduced MPD) in both patient groups (n = 111; χ² = 8·166, P = 0·017; n = 55; χ² = 10·303, P = 0·016). Conclusions

Our data demonstrate that MC1R genotype influences PUVA erythemal sensitivity in patients with psoriasis and other common skin diseases.

Keywords: erythema; genotype; MC1R; psoralen-ultraviolet A photochemotherapy; ultraviolet radiation

Document Type: Research article

DOI: 10.1111/j.1365-2133.2007.08209.x

Affiliations: 1: Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, U.K. 2: Photobiology Unit, Ninewells Hospital and Medical School, Dundee DD1 9SY, U.K.

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Melanocortin 1 receptor (MC1R) genotype influences erythemal sensitivity to psoralen-ultraviolet A photochemotherapy