Melanocortin 1 receptor variants in an Irish population

Smith, Rachel, Healy, Eugene, Siddiqui, Shazia, Flanagan, Niamh, Steijlen, Peter M., Rosdahl, Inger, Jacques, Jon P., Rogers, Sarah, Turner, Richard, Jackson, Ian J., Birch-Machin, Mark A. and Rees, Jonathan L. (1998) Melanocortin 1 receptor variants in an Irish population Journal of Investigative Dermatology, 111, (1), pp. 101-104. (doi:10.1046/j.1523-1747.1998.00252.x). (PMID:9665397).


Full text not available from this repository.


The identification of an association between variants in the human melanocortin 1 receptor (MC1R) gene and red hair and fair skin, as well as the relation between variants of this gene and coat color in animals, suggests that the MC1R is an integral control point in the normal pigmentation phenotype. In order to further define the contribution of MC1R variants to pigmentation in a normal population, we have looked for alterations in this gene in series of individuals from a general Irish population, in whom there is a preponderance of individuals with fair skin type. Seventy-five per cent contained a variant in the MC1R gene, with 30% containing two variants. The Arg151Cys, Arg160Trp, and Asp294His variants were significantly associated with red hair (p = 0.0015, p < 0.001, and p < 0.005, respectively). Importantly, no individuals harboring two of these three variants did not have red hair, although some red-haired individuals only showed one alteration. The same three variants were also over-represented in individuals with light skin type as assessed using a modified Fitzpatrick scale. Despite these associations many subjects with dark hair/darker skin type harbored MC1R variants, but there was no evidence of any particular association of variants with the darker phenotype. The Asp294His variant was similarly associated with red hair in a Dutch population, but was infrequent in red-headed subjects from Sweden. The Asp294His variant was also significantly associated with nonmelanoma skin cancer in a U.K. population. The results show that the Arg151Cys, Arg160Trp, and Asp294His variants are of key significance in determining the pigmentary phenotype and response to ultraviolet radiation, and suggest that in many cases the red-haired component and in some cases fair skin type are inherited as a Mendelian recessive.

Item Type: Article
Digital Object Identifier (DOI): doi:10.1046/j.1523-1747.1998.00252.x
ISSNs: 0022-202X (print)
Related URLs:
Keywords: genetics, hair color, pigmentation, skin type

Organisations: Clinical & Experimental Sciences
ePrint ID: 334246
Date :
Date Event
July 1998Published
Date Deposited: 13 Mar 2012 12:38
Last Modified: 17 Apr 2017 17:27
Further Information:Google Scholar

Actions (login required)

View Item View Item