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Cited by 304

The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.

The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma

Open access
Valverde, P·1996·Human Molecular Genetics
DOI 10.1093/hmg/5.10.1663
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Abstract

Melanocyte stimulating hormone (MSH) plays an important role in determining the cutaneous response to ultraviolet radiation and may also influence melanoma progression. We have previously shown that variants of the melanocortin receptor present on melanocytes, MC1R, are associated with sun sensitivity and red hair in a UK population and therefore now consider the gene as a candidate for melanoma susceptibility. We have compared the frequency of known MC1R variants in the second and seventh transmembrane domains in 43 melanoma cases and 44 controls. MC1R variants were more common in cases than controls (chi 2 = 6.75, 1 d.f.; P = 0.0094) with a relative risk to carriers of variant alleles compared with normal homozygotes of 3.91 (95% c.l.: 1.48-10.35), and a population risk attributable to carriers of 34.6% (95% c.i. 10.7-52.1%). The Asp84Glu variant was only present in melanoma cases and appears to be of particular significance. The contribution of variant MC1R alleles was largely independent of skin type. Variants of the MC1R gene are likely to be causally associated with the development of melanoma.

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Metadata

Authors
Valverde, P.
Venue
Human Molecular Genetics
Publisher
Oxford University Press (OUP)
Published
1996-10-01
Volume
5
Issue
10
Pages
1663-1666
ISSN
  • 0964-6906 (ISSN-L)
  • 1460-2083
DOI
10.1093/hmg/5.10.1663
OpenAlex
W2137370771
Cited by
304
References
27
FWCI
3.41
Type
journal article
Language
en
Open access
green

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