Actinic damage on the back is significantly determined by
            <i>MC1R</i>
            variants and previous sun exposure compared with other body sites in a multivariate analysis

Wendt, Judith; Rauscher, Sabine; Burgstaller‐Mühlbacher, S.; Roka, Florian; Faé, Ingrid; Fischer, Gottfried; Pehamberger, Hubert; Okamoto, Ichiro

doi:10.1111/bjd.12994

Cited by 4 publications

(17 citation statements)

References 31 publications

(46 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…All 1668 histologically confirmed patients with melanoma who were recruited from 2008 to 2015 as part of the M3 case–control study were included . The participants originated mainly from Vienna, the province of Lower Austria, and Burgenland (Table S1; see Supporting Information).…”

Section: Methodsmentioning

confidence: 99%

“…Sequencing data were available for CDKN2A from 474 participants, for exon 2 of CDK4 from 109 patients and for MC1R from 875 participants, as described previously . Additionally, 93 new cases were sequenced for CDKN2A , 123 for CDK4 and MITF , and 89 for MC1R .…”

Section: Methodsmentioning

confidence: 99%

“…Additionally, 93 new cases were sequenced for CDKN2A , 123 for CDK4 and MITF , and 89 for MC1R . MC1R was analysed in all cases of melanoma (964 in total) as part of an association study . Among those 964 patients genotyped for MC1R , 452 high‐risk patients and 115 cases of sporadic melanoma were sequenced for CDKN2A .…”

Section: Methodsmentioning

confidence: 99%

See 2 more Smart Citations

Characterization of patients at high risk of melanoma in Austria

et al. 2016

Self Cite

View full text Add to dashboard Cite

show abstract

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

Characterization of patients at high risk of melanoma in Austria

et al. 2016

Self Cite

View full text Add to dashboard Cite

show abstract

“…More detailed information about the study population has been reported previously. 11 Written consent was obtained from all participants. This study was approved by the ethics committee of the MUV.…”

Section: Study Populationmentioning

confidence: 99%

“…): Wrinkling on the face was defined as deep skin lines occurring on the forehead, periorbital, and perioral region, whereas wrinkling on the neck was defined as deep skin lines, commonly appearing in a characteristic rhomboid pattern. 11 Freckling was defined as persistent areas of hyperpigmentation, resulting in a mottled, irregular skin appearance; 12,13 and solar lentigines were defined as brown, macular lesions with sharp margins. Dependent on their severity, these signs of actinic skin damage were graded, as described elsewhere, 14 as absent, mild, moderate, or severe.…”

Section: Assessment Of Sunburn History and Signs Of Actinic Skin Damagementioning

confidence: 99%

Human Determinants and the Role of Melanocortin-1 Receptor Variants in Melanoma Risk Independent of UV Radiation Exposure

Wendt

Rauscher

Burgstaller-Muehlbacher

et al. 2016

JAMA Dermatol

View full text Add to dashboard Cite

IMPORTANCE Despite the unquestioned relationship of UV radiation (UVR) exposure and melanoma development, UVR-independent development of melanoma has only recently been described in mice. These findings in mice highlight the importance of the genetic background of the host and could be relevant for preventive measures in humans. OBJECTIVE To study the role of the melanocortin-1 receptor (MC1R) and melanoma risk independently from UVR in a clinical setting. DESIGN, SETTING, AND PARTICIPANTS Hospital-based case-control study, including genetic testing, questionnaires, and physical data (Molecular Markers of Melanoma Study data set) including 991 melanoma patients (cases) and 800 controls. MAIN OUTCOMES AND MEASURES Association of MC1R variants and melanoma risk independent from sun exposure variables. RESULTS The 1791 participants included 991 with a diagnosis of melanoma and 800 control patients (mean [SD] age, 59.2 [15.6] years; 50.5% male). Compared with wild-type carriers, carriers of MC1R variants were at higher melanoma risk after statistically adjusting for previous UVR exposure (represented by prior sunburns and signs of actinic skin damage identified by dermatologists), age, and sex compared with wild-type carriers (Ն2 variants, OR, 2.13 [95% CI, 1.66-2.75], P < .001; P for trend <.001). After adjustment for sex, age, sunburns in the past, and signs of actinic skin damage, the associations remained significant (OR, 1.65 [95% CI, 1.

show abstract

Contributions byMC1RVariants to Melanoma Risk in Males and Females

et al. 2018

View full text Add to dashboard Cite

revious studies have shown population-specific differences in pigmentation phenotype between males and females regarding phototype, tanning ability, and eye color. [1][2][3][4][5] Recently, a Spanish group described a stronger effect of melanocortin-1-receptor (MC1R) variants on skin phototype in females compared with males 6 : in females, MC1R variants were associated with lower phototypes compared with male carriers of the same variants. This finding is of interest because MC1R is known to be highly polymorphic-with more than 80 variants described-and is the main regulator of pigmentation phenotype, including hair color, skin pigmentation, and sun sensitivity at the same time. [7][8][9][10] Activation and subsequent signaling of this G-protein coupled receptor result in 2 different types of melanin: the lighter, yellowreddish pheomelanin and the darker, brown to black eumelanin. The ratio of eumelanin and pheomelanin is determined by the variants an individual carries and results in particular phenotypes. Variants that were found to be associated with red hair and fair skin were classified as "R" (high-risk) and "r" (lowrisk) variants. These variants also have been well described as being associated with melanoma risk, which is plausible owing to less effective protection of pheomelanin against UV radiation 7,8,10-12 as well as pro-oxidant properties. Only recently, MC1R red hair variants were associated with melanoma, even independent of sun exposure. 13 Differences between the sexes do not affect only skin pigmentation. There are also differences in age at onset, incidence rates, site of tumor occurrence, and survival between male and female patients with melanoma. [14][15][16][17][18][19] Despite these well-acknowledged differences, an explanation for those differences is still missing. It thus seems of particular interest to elucidate the role of genetic risk factors (eg, MC1R) and melanoma risk in males and females separately to better understand possible underlying sex-dependent differences in mela-IMPORTANCE Recently, the red hair variants of MC1R were found to contribute differently to pigmentation phenotype in males and females.OBJECTIVE To investigate the role of these variants in melanoma risk in males and females separately because carriers of the red hair variants of MC1R are at increased risk of melanoma. DESIGN, SETTING, AND PARTICIPANTSIn this hospital-based, case-control study, we evaluated the effect of MC1R and melanoma risk for males and females separately by performing multivariate logistic regression analyses. MAIN OUTCOMES AND MEASURES Association of MC1R variants and melanoma risk in males and females.RESULTS A total of 905 females (473 melanoma cases, 432 controls) and 886 males (518 melanoma cases, 368 controls) were included in the analyses. The mean (SD) age of the study population was 59.2 (15.6). In females, carrying any MC1R red hair variants remained an independent risk factor of melanoma in a multivariable analysis (adjusted odds ratio [OR], 2.19 [95% CI, 1.60-2.99]), whereas in...

show abstract

Actinic damage on the back is significantly determined by MC1R variants and previous sun exposure compared with other body sites in a multivariate analysis

Abstract: The particular effect of MC1R variants and sun exposure during recreational time on dorsal actinic damage indicates that actinic damage on the back is more informative regarding susceptibility to sunlight and past sun exposure associated with melanoma risk.

Cited by 4 publications

References 31 publications

Characterization of patients at high risk of melanoma in Austria

Characterization of patients at high risk of melanoma in Austria

Human Determinants and the Role of Melanocortin-1 Receptor Variants in Melanoma Risk Independent of UV Radiation Exposure

Contributions byMC1RVariants to Melanoma Risk in Males and Females

Contact Info

Product

Resources

About