Wachsmuth Rachel C, Turner Faye, Barrett Jennifer H, Gaut Rupert, Randerson-Moor Juliette A, Bishop D Timothy, Bishop Julia A Newton
Genetic Epidemiology Division, Cancer Research UK, St James's University Hospital, Leeds, UK.
J Invest Dermatol. 2005 Jan;124(1):56-62. doi: 10.1111/j.0022-202X.2004.23548.x.
We report a study of 221 teenage twin pairs to examine the genetic and environmental determinants of nevi representing the most potent phenotypic risk factor for melanoma. Our published heritability analysis estimated that nevi are mainly genetically determined. In this paper we examine the role of sun exposure. We report a correlation between nevus density and sun exposure, particularly that acquired in hotter countries than in the UK (mean nevus density 41 per m2 in those in the highest quartile of exposure vs 24 per m2 in those with no exposure, p<0.0001). We were not able to demonstrate a protective effect for either sun protection cream or shirt wearing. By including phenotypic variables and reported sun exposure into the heritability analysis, we conclude that 66% of the total variance of nevus count is attributable to genetic effects: 7% associated to eye color, 6% to hair color, and 1% to reported skin type, which leaves 52% as to yet unidentified genetic factors. Of the 25% of variation attributable to environmental influences, one-third is estimated to be because of sun exposure on hot holidays.
我们报告了一项针对221对青少年双胞胎的研究,以探究痣的遗传和环境决定因素,痣是黑色素瘤最主要的表型风险因素。我们已发表的遗传力分析估计,痣主要由遗传决定。在本文中,我们研究阳光照射的作用。我们报告了痣密度与阳光照射之间的相关性,特别是在比英国气候更炎热的国家所受到的阳光照射(暴露程度处于最高四分位数的人群中,痣的平均密度为每平方米41颗,而未暴露人群中为每平方米24颗,p<0.0001)。我们未能证明防晒霜或穿衬衫有保护作用。通过将表型变量和报告的阳光照射纳入遗传力分析,我们得出结论,痣数量总变异的66%可归因于遗传效应:7%与眼睛颜色相关,6%与头发颜色相关,1%与报告的皮肤类型相关,其余52%归因于尚未明确的遗传因素。在可归因于环境影响的25%的变异中,估计三分之一是由于在炎热假期受到的阳光照射。