The D84E variant of the α-MSH receptor 1 gene is associated with cutaneous malignant melanoma early onset

de-Misa, R F; Hernández-Jiménez, J; Hernández, G. Carretero; Pérez‐Méndez, Lina; Aguirre‐Jaime, Armando; Flores, Carlos; Hernández, José Suárez; Molinero, A. Perera; Claverie-Martı́n, Félix

doi:10.1016/j.jdermsci.2008.06.001

Cited by 4 publications

(2 citation statements)

References 32 publications

(47 reference statements)

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“…These results were consistent with the findings from previous studies in Australian and European populations (Matichard et al, 2004; Palmer et al, 2000; Sturm, 2002), although slightly different from the results of a recent study, in which there was a weak risk association between higher frequency of high degree primary CM and c.451T variant genotypes and a borderline association for c.478T and c.880C variant genotypes (Kanetsky et al, 2006). Furthermore, no significant association with the c.252A variant genotypes was found in our present and others studies (Ichii-Jones et al, 1998; Palmer et al, 2000), which is inconsistent with two other publications (R et al, 2008; Valverde et al, 1996). There may be ethnic and geographic differences in the etiology of melanoma in addition to CM risk associated with this variant.…”

Section: Discussioncontrasting

confidence: 99%

“…In addition, no significant association with the c.252A variant genotypes was found in our present and The numbers in bold are statistically significant. , 1998;Palmer et al, 2000), which is inconsistent with the findings from two other publications (F- de-Misa et al, 2008;Valverde et al, 1996). There may be ethnic and geographic differences in the etiology of melanoma in addition to CM risk associated with this variant.…”

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confidence: 82%

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Variants in melanocortin 1 receptor gene contribute to risk of melanoma – a direct sequencing analysis in a Texas population

Guan

Niu

Liu

et al. 2013

Pigment Cell Melanoma Res

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Summary In this study, we directly sequenced the Melanocortin 1 Receptor (MC1R) gene in 2,212 individuals to detect all variants and assessed their associations with cutaneous melanoma (CM) risk in a hospital-based study of 1,106 CM patients and 1,106 control subjects. Of 61 MC1R variants identified, 16 rare variants have not been previously reported by others; three MC1R variants were associated with a significant CM risk [c.451C>T (OR = 1.78, 95% CI = 1.44–2.20), c.478C>T (OR = 1.31, 95% CI = 1.05–1.63), and c.880G>C (OR = 1.69, 95% CI = 1.15–2.48)]; and two with borderline CM risk [c.942A>G (OR =1.23, 95% CI =1.00–1.51, and c.274G>A (OR = 1.23,95% CI = 0.99–1.53)] under a dominant model. When combined these five MC1R variants for cumulative effect analysis, we found that subjects with an increased number of variant genotypes from any of these five variants had significantly increased risk of CM with ORs of 1.68 (95% CI = 1.39–2.04), 1.61 (95% CI = 1.27–2.04), and 2.64 (95% CI = 1.72–4.05) for one, two, and three or more variant genotypes, respectively (trend test: P <0.001). Further haplotype and diplotype analyses based on the above-mentioned five SNPs suggested that the c.451T allele contributed to the high risk of CM and that the five variants may have joint effects on the risk of CM. Additional analysis suggests that the three most significant SNPs may be the molecular mechanisms underlying the known risk factors of the colors of the eyes, skin and hair in this study population. In conclusion, our study provided confirmatory evidence that both common and rare variants in the MC1R coding region may be biomarkers for susceptibility to CM in US populations.

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confidence: 99%

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confidence: 82%

Variants in melanocortin 1 receptor gene contribute to risk of melanoma – a direct sequencing analysis in a Texas population

Guan

Niu

Liu

et al. 2013

Pigment Cell Melanoma Res

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MC1R gene variants and sporadic malignant melanoma susceptibility in the Canary Islands population

et al. 2013

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Several MC1R variants are associated with increased risk of malignant melanoma (MM) in a variety of populations. We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and the synonymous polymorphism T314T) on the MM risk in a population from the Canary Islands. Overall, 1,046 Caucasian individuals were included in the study. A thousand of them were genotyped for MC1R variants: 509 were sporadic MM patients and 491 were healthy control subjects from general population. The analysis was adjusted for age, sex, hair colour, eye colour, skin phototype and ancestry. We found that carriers of the R151C and R163Q variants were at an increased risk for melanoma OR 2.76 (1.59-4.78) and OR 5.62 (2.54-12.42), respectively. The risk of carrying RHC variants was 3.04 (1.90-4.86). Current study confirms the increased MM risk for R151C carriers. It also supports the association between R163Q variant and MM risk in the population on the Canary Islands, as opposed to reported on northern populations. These results highlight the importance of the sample population selection in this kind of studies.

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Chapter 4 The Melanocortin‐1 Receptor Gene Polymorphism and Association with Human Skin Cancer

Beaumont¹,

Liu²,

Sturm³

2009

Progress in Molecular Biology and Translational Science

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The D84E variant of the α-MSH receptor 1 gene is associated with cutaneous malignant melanoma early onset

Cited by 4 publications

References 32 publications

Variants in melanocortin 1 receptor gene contribute to risk of melanoma – a direct sequencing analysis in a Texas population

Variants in melanocortin 1 receptor gene contribute to risk of melanoma – a direct sequencing analysis in a Texas population

MC1R gene variants and sporadic malignant melanoma susceptibility in the Canary Islands population

Chapter 4 The Melanocortin‐1 Receptor Gene Polymorphism and Association with Human Skin Cancer

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