Dataset Information

The genetics of sun sensitivity in humans.

ABSTRACT: Humans vary >100-fold in their sensitivity to the harmful effects of ultraviolet radiation. The main determinants of sensitivity are melanin pigmentation and less-well-characterized differences in skin inflammation and repair processes. Pigmentation has a high heritability, but susceptibility to cancers of the skin, a key marker of sun sensitivity, is less heritable. Despite a large number of murine coat-color mutations, only one gene in humans, the melanocortin 1 receptor (MC1R), is known to account for substantial variation in skin and hair color and in skin cancer incidence. MC1R encodes a 317-amino acid G-coupled receptor that controls the relative amounts of the two major melanin classes, eumelanin and pheomelanin. Most persons with red hair are homozygous for alleles of the MC1R gene that show varying degrees of diminished function. More than 65 human MC1R alleles with nonsynonymous changes have been identified, and current evidence suggests that many of them vary in their physiological activity, such that a graded series of responses can be achieved on the basis of (i) dosage effects (of one or two alleles) and (ii) individual differences in the pharmacological profile in response to ligand. Thus, a single locus, identified within a Mendelian framework, can contribute significantly to human pigmentary variation.

SUBMITTER: Rees JL

PROVIDER: S-EPMC1182105 | biostudies-literature | 2004 Nov

REPOSITORIES: biostudies-literature

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The genetics of sun sensitivity in humans.

Rees Jonathan L JL

American journal of human genetics 20040915 5

Humans vary >100-fold in their sensitivity to the harmful effects of ultraviolet radiation. The main determinants of sensitivity are melanin pigmentation and less-well-characterized differences in skin inflammation and repair processes. Pigmentation has a high heritability, but susceptibility to cancers of the skin, a key marker of sun sensitivity, is less heritable. Despite a large number of murine coat-color mutations, only one gene in humans, the melanocortin 1 receptor (MC1R), is known to ac ...[more]

PMID: 15372380

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Project description:ImportanceUnderstanding patterns of sun-protective behaviors and their association with sunburn can provide important insight into measurement approaches and intervention targets.ObjectiveTo assess whether decision-based modeling can be used to identify patterns of sun-protective behaviors associated with the likelihood of sunburn and to compare the predictive value of this method with traditional (ie, composite score) measurement approaches.Design, setting, and participantsThis cross-sectional study used a nationally representative sample of 31?162 US adults from the 2015 National Health Interview Survey, consisting of household interviews conducted in person and completed by telephone when necessary. Participants included civilian noninstitutionalized US adults. Data were collected from January 1 through December 31, 2015.Main outcomes and measuresThe associations among sun sensitivity, multiple sun-protective behaviors (ie, using sunscreen, seeking shade, wearing a hat, and wearing protective clothing), and sunburn were examined using a ?2 automatic interaction detection method for decision tree analysis. Results were compared with a composite score approach.ResultsIn our study population of 28?558 respondents with complete data (54.1% women; mean [SD] age, 49.0 [18.0] years), 20 patterns of sun protection were identified. Among 15?992 sun-sensitive individuals, those who used only sunscreen had the highest likelihood of sunburn (62.4%). The group with the lowest likelihood of sunburn did not report using sunscreen but engaged in the other 3 protective behaviors (24.3% likelihood of sunburn). Among 12?566 non-sun-sensitive individuals, those who engaged in all 4 protective behaviors had the lowest likelihood of sunburn (6.6%). The highest likelihood of sunburn was among those who only reported sunscreen use (26.2%). The decision tree model and the composite score approach correctly classified a similar number of cases; however, the decision tree model was superior in classifying cases with sunburn (44.3% correctly classified in the decision tree vs 25.9% with the composite score).Conclusions and relevanceThis innovative application of a decision tree analytic approach demonstrates the interactive and sometimes counterintuitive effects of multiple sun-protective behaviors on likelihood of sunburn. These data show where traditional measurement approaches of behavior may fall short and highlight the importance of linking behavior to a clinically relevant outcome. Given the scope of those affected and enormous associated health care costs, improving efforts in skin cancer prevention has the potential for a significant effect on public health.

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The genetics of sun sensitivity in humans.

Publications

The genetics of sun sensitivity in humans.

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