FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1991102022> ?p ?o ?g. }

• W1991102022 endingPage "513" @default.
• W1991102022 startingPage "512" @default.
• W1991102022 abstract "To the Editor: We were interested to read the recent paper byIchii-Jones et al., 1998Ichii-Jones F. Lear J.T. Heagerty A.H.M. et al.Susceptibility to melanoma: influence of skin type and polymorphism in the melanocyte stimulating hormone receptor gene.J Invest Dermatol. 1998; 111: 218-221Abstract Full Text Full Text PDF PubMed Scopus (64) Google Scholar published in the Journal of Investigative Dermatology. The authors searched for particular variants of the melanocortin 1 receptor (MC1R) using restriction fragment length polymorphism analysis and performed a case control study with skin type and melanoma. Essentially the authors failed to find any significant relationship between the particular variants they examined and phenotype. We would contend that there are strong associations between particular variants of the MC1R and skin type and possibly with melanoma. We suggest two reasons that may have contributed to the apparent discrepancy between the authors’ results and those previously published by ourselves and colleagues (Valverde et al., 1995Valverde P. Healy E. Jackson I. Rees J.L. Thody A.J. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans.Nature Genet. 1995; 11: 328-330Crossref PubMed Scopus (837) Google Scholar,Valverde et al., 1996Valverde P. Healy E. Sikkink S. et al.The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma.Hum Mol Genet. 1996; 5: 1663-1666Crossref PubMed Scopus (276) Google Scholar;Box et al., 1997Box N.F. Wyeth J.R. O’Gorman L.E. Martin N.G. Sturm R.A. Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.Hum Mol Genet. 1997; 6: 1891-1897Crossref PubMed Scopus (302) Google Scholar;Smith et al., 1998Smith R. Healy E. Siddiqui S. et al.Melanocortin 1 receptor variants in an Irish population.J Invest Dermatol. 1998; 111: 119-122Abstract Full Text Full Text PDF PubMed Scopus (220) Google Scholar). There are over 20 known variants of the MC1R. In our original Nature Genetics paper (Valverde et al., 1995Valverde P. Healy E. Jackson I. Rees J.L. Thody A.J. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans.Nature Genet. 1995; 11: 328-330Crossref PubMed Scopus (837) Google Scholar) we detected some but not all of these. As was appropriate for an initial survey, putative associations required confirmation and Ichii-Jones et al’s paper is a welcome contribution to this. Subsequent work by ourselves and by others has shown that three particular variants, the Arg151Cys, Arg160Trp, and Asp294His variants, are strongly associated with red hair with a majority of individuals with red hair being either compound heterozygotes or homozygotes for one of these three alleles. To this extent red hair approximates to a Mendelian recessive model (Smith et al., 1998Smith R. Healy E. Siddiqui S. et al.Melanocortin 1 receptor variants in an Irish population.J Invest Dermatol. 1998; 111: 119-122Abstract Full Text Full Text PDF PubMed Scopus (220) Google Scholar). Importantly the relative risks for red hair and possession of one of these alleles are actually quite high (8–15-fold). We would therefore suggest that the results of Ichii-Jones et al. can be accounted for in two ways. First, previous study by ourselves failed to find any association between the codon 92 variant or the codon 84 variant and skin type or hair color (Valverde et al., 1996Valverde P. Healy E. Sikkink S. et al.The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma.Hum Mol Genet. 1996; 5: 1663-1666Crossref PubMed Scopus (276) Google Scholar). This was confirmed in the study byBox et al., 1997Box N.F. Wyeth J.R. O’Gorman L.E. Martin N.G. Sturm R.A. Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.Hum Mol Genet. 1997; 6: 1891-1897Crossref PubMed Scopus (302) Google Scholar and more recently bySmith et al., 1998Smith R. Healy E. Siddiqui S. et al.Melanocortin 1 receptor variants in an Irish population.J Invest Dermatol. 1998; 111: 119-122Abstract Full Text Full Text PDF PubMed Scopus (220) Google Scholar. The failure of Ichii-Jones et al. to detect a statistically significant association between the Asp294His variant and hair color or skin type is perhaps more surprising. One possibility is that Ichii-Jones et al. carried out much of their phenotypic assessment in busy outpatients where (as they state) insufficient time meant that not all clinical data were obtained from all patients. Furthermore the authors report that many different individuals carried out the skin typing and assessment of hair color. We think use of standardized hair charts together with a more rigorous assessment of skin type is preferable. We suspect that this is the likely explanation for their failure to detect a relation between the 294 variant and hair color or skin type. The recent publication of evidence of functional impairment of the Arg151Cys variant (Frändberg et al., 1998Frändberg P.A. Doufexis M. Kapas S. Chhajlani V. Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor.Biochem Biophys Res Commun. 1998; 245: 490-492Crossref PubMed Scopus (103) Google Scholar) together with our own unpublished observations on the Asp294His and Arg151Cys, strongly support a role for these particular variants in the red hair/skin type I phenotype. In their study,Ichii-Jones et al., 1998Ichii-Jones F. Lear J.T. Heagerty A.H.M. et al.Susceptibility to melanoma: influence of skin type and polymorphism in the melanocyte stimulating hormone receptor gene.J Invest Dermatol. 1998; 111: 218-221Abstract Full Text Full Text PDF PubMed Scopus (64) Google Scholar reported that allele frequencies were not different in melanoma cases and controls for any of the three MC1R variants investigated, but that after correction for imbalances in age, gender, and skin type, the association of the Asp84Glu allele with increased risk of melanoma approached significance (p = 0.069, odds ratio = 3.0, 95% CI = 0.9–9.6); however, because of the large number of MC1R variants that exist and because in our previous study on MC1R variants in subjects with melanoma only the second and seventh transmembrane domains were sequenced (Valverde et al., 1996Valverde P. Healy E. Sikkink S. et al.The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma.Hum Mol Genet. 1996; 5: 1663-1666Crossref PubMed Scopus (276) Google Scholar), the question still remains open whether many of the numerous MC1R variants predispose to melanoma, or whether certain variants confer higher risk than others. Subsequently we have examined the entire coding region of the MC1R gene by bidirectional automated sequencing in 26 individuals, 20 of whom were included in our original study and who did not contain the Asp84Glu variant. In addition, the frequency of the Asp84Glu variant was investigated by restriction fragment length polymorphism analysis in another 26 individuals from a similar U.K. population, none of whom were included in our original study. DNA was extracted from blood, paraffin-embedded skin or paraffin-embedded melanoma from subjects with cutaneous melanoma [in our original study variants that were present in the melanoma were also always present in the germline, and chromosome arm 16q where the MC1R gene is located does not seem to be a target for loss of heterozygosity in cutaneous melanoma (Healy et al., 1996Healy E. Belgaid C.E. Takata M. Vahlquist A. Rehman I. Rigby H. Rees J.L. Allelotypes of primary cutaneous melanoma and benign melanocytic nevi.Cancer Res. 1996; 56: 589-593PubMed Google Scholar)]. MC1R variants were identified in 16 of the 26 melanoma cases that were sequenced for the entire coding region of the MC1R gene [with the Val60Leu variant observed in 11 cases (Table 1)]; however, the Asp84Glu variant was identified in only two of the 32 patients who were not included in our previous study, suggesting that the Asp84Glu variant is not as frequent as previously suspected in melanoma patients, and that this variant is unlikely to be a major risk factor for the development of cutaneous melanoma. The overall frequency of MC1R variants in the 26 melanoma patients in whom the gene was sequenced does not differ significantly from that detected by our group, and recently reported in the Journal of Investigative Dermatology (Smith et al., 1998Smith R. Healy E. Siddiqui S. et al.Melanocortin 1 receptor variants in an Irish population.J Invest Dermatol. 1998; 111: 119-122Abstract Full Text Full Text PDF PubMed Scopus (220) Google Scholar), in a fair skinned Caucasian population (16 of 26 melanoma cases versus 53 of 71 Irish individuals, Chi2 = 0.278, p = 0.597). It seems likely that the variation between the studies is primarily due to population sampling because of the large number of variants that exist in the MC1R gene, and we are reluctant at this stage to attribute any special importance to the association of the Val60Leu variant with melanoma for instance.Table 1MC1R variants detected by sequencing the entire MC1R coding region in 26 individuals with cutaneous melanomaVariantNumber of cases with variantVal60Leu11Val92Met3Arg142His2Arg151Cys3Arg160Trp1Arg163Gln1 Open table in a new tab We would suggest that, at the current time, sequencing of the entire MC1R gene is essential in investigations relating to many variants with particular phenotypes. Study of selected restriction fragment length polymorphisms may miss significant associations, as we would contend with the Ichii-Jones study. MC1R variants are associated with red hair and fair skin, phenotypic characteristics that render individuals susceptible to cutaneous melanoma, but further work is required to dissect out whether MC1R variants in melanoma act independently of the skin type phenotype." @default.
• W1991102022 created "2016-06-24" @default.
• W1991102022 creator A5013675331 @default.
• W1991102022 creator A5017056436 @default.
• W1991102022 creator A5029430064 @default.
• W1991102022 creator A5070906741 @default.
• W1991102022 creator A5083469770 @default.
• W1991102022 date "1999-04-01" @default.
• W1991102022 modified "2023-10-18" @default.
• W1991102022 title "Skin Type, Melanoma, and Melanocortin 1 Receptor Variants" @default.
• W1991102022 cites W1981605211 @default.
• W1991102022 cites W2051112657 @default.
• W1991102022 cites W2058363605 @default.
• W1991102022 cites W2116893702 @default.
• W1991102022 cites W2133235730 @default.
• W1991102022 cites W2137370771 @default.
• W1991102022 doi "https://doi.org/10.1046/j.1523-1747.1999.00554.x" @default.
• W1991102022 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10201538" @default.
• W1991102022 hasPublicationYear "1999" @default.
• W1991102022 type Work @default.
• W1991102022 sameAs 1991102022 @default.
• W1991102022 citedByCount "24" @default.
• W1991102022 countsByYear W19911020222014 @default.
• W1991102022 crossrefType "journal-article" @default.
• W1991102022 hasAuthorship W1991102022A5013675331 @default.
• W1991102022 hasAuthorship W1991102022A5017056436 @default.
• W1991102022 hasAuthorship W1991102022A5029430064 @default.
• W1991102022 hasAuthorship W1991102022A5070906741 @default.
• W1991102022 hasAuthorship W1991102022A5083469770 @default.
• W1991102022 hasBestOaLocation W19911020221 @default.
• W1991102022 hasConcept C104317684 @default.
• W1991102022 hasConcept C127716648 @default.
• W1991102022 hasConcept C16005928 @default.
• W1991102022 hasConcept C170493617 @default.
• W1991102022 hasConcept C182843373 @default.
• W1991102022 hasConcept C18903297 @default.
• W1991102022 hasConcept C2777241137 @default.
• W1991102022 hasConcept C2777299769 @default.
• W1991102022 hasConcept C2777658100 @default.
• W1991102022 hasConcept C2779993316 @default.
• W1991102022 hasConcept C43790157 @default.
• W1991102022 hasConcept C502942594 @default.
• W1991102022 hasConcept C54355233 @default.
• W1991102022 hasConcept C71924100 @default.
• W1991102022 hasConcept C86803240 @default.
• W1991102022 hasConceptScore W1991102022C104317684 @default.
• W1991102022 hasConceptScore W1991102022C127716648 @default.
• W1991102022 hasConceptScore W1991102022C16005928 @default.
• W1991102022 hasConceptScore W1991102022C170493617 @default.
• W1991102022 hasConceptScore W1991102022C182843373 @default.
• W1991102022 hasConceptScore W1991102022C18903297 @default.
• W1991102022 hasConceptScore W1991102022C2777241137 @default.
• W1991102022 hasConceptScore W1991102022C2777299769 @default.
• W1991102022 hasConceptScore W1991102022C2777658100 @default.
• W1991102022 hasConceptScore W1991102022C2779993316 @default.
• W1991102022 hasConceptScore W1991102022C43790157 @default.
• W1991102022 hasConceptScore W1991102022C502942594 @default.
• W1991102022 hasConceptScore W1991102022C54355233 @default.
• W1991102022 hasConceptScore W1991102022C71924100 @default.
• W1991102022 hasConceptScore W1991102022C86803240 @default.
• W1991102022 hasIssue "4" @default.
• W1991102022 hasLocation W19911020221 @default.
• W1991102022 hasLocation W19911020222 @default.
• W1991102022 hasLocation W19911020223 @default.
• W1991102022 hasOpenAccess W1991102022 @default.
• W1991102022 hasPrimaryLocation W19911020221 @default.
• W1991102022 hasRelatedWork W2061954544 @default.
• W1991102022 hasRelatedWork W2089588566 @default.
• W1991102022 hasRelatedWork W2091836794 @default.
• W1991102022 hasRelatedWork W2103773578 @default.
• W1991102022 hasRelatedWork W2164015875 @default.
• W1991102022 hasRelatedWork W2164831606 @default.
• W1991102022 hasRelatedWork W2277897110 @default.
• W1991102022 hasRelatedWork W2624067056 @default.
• W1991102022 hasRelatedWork W2905727253 @default.
• W1991102022 hasRelatedWork W2978737227 @default.
• W1991102022 hasVolume "112" @default.
• W1991102022 isParatext "false" @default.
• W1991102022 isRetracted "false" @default.
• W1991102022 magId "1991102022" @default.
• W1991102022 workType "article" @default.