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成年双胞胎队列中痣模式的遗传性:一项横断面研究。

Heritability of naevus patterns in an adult twin cohort from the Brisbane Twin Registry: a cross-sectional study.

机构信息

Dermatology Research Centre, The University of Queensland, School of Medicine, Translational Research Institute, Brisbane, Australia.

QIMR Berghofer Medical Research Institute, Brisbane, Australia.

出版信息

Br J Dermatol. 2016 Feb;174(2):356-63. doi: 10.1111/bjd.14291. Epub 2016 Jan 22.

Abstract

BACKGROUND

Heritability of naevi counts is widely acknowledged as a potential surveillance parameter for prevention purposes. The contribution of heritability to the changes seen in naevus number and morphology over time and their corresponding dermoscopic characteristics is unknown, but is important to understand in order to account for adequate prevention measures.

OBJECTIVES

To identify naevus characteristics that are strongly influenced by heritability.

METHODS

This cross-sectional study included 220 individuals [76 monozygotic (MZ), 144 dizygotic (DZ)], recruited from the Brisbane Twin Naevus Study. Participants received full body imaging and dermoscopy of naevi ≥ 5 mm in diameter. Dermoscopic type, total naevus count (TNC), change in TNC with age, and naevus distribution, size, colour and profile were compared between MZ and DZ twins. Heritability of these traits was assessed via Falconer's estimate.

RESULTS

Significant differences were found in comparing MZ and DZ twins for TNC, numbers of naevi 5·0-7·9 mm in diameter, counts of light-brown naevi, naevi on the back and sun-protected sites, and naevi with the 'nonspecific' dermoscopic pattern.

CONCLUSIONS

This study strongly supports a heritable component to TNC, as well as changes in TNC, and the number of medium-sized naevi, light-brown naevi, specific sites and certain dermoscopic features in adults. These characteristics should be taken into account by naevus surveillance programmes and further studied to identify candidate gene associations for clinical and dermoscopic patterns in conjunction with melanoma risk stratification.

摘要

背景

痣计数的遗传性被广泛认为是预防目的的潜在监测参数。遗传力对痣数量和形态随时间的变化及其相应的皮肤镜特征的贡献尚不清楚,但了解这一点对于制定适当的预防措施很重要。

目的

确定受遗传力强烈影响的痣特征。

方法

本横断面研究纳入了 220 名个体[76 对同卵(MZ),144 对异卵(DZ)],均来自布里斯班双胞胎痣研究。参与者接受了全身成像和直径≥5 毫米的痣的皮肤镜检查。比较 MZ 和 DZ 双胞胎之间的皮肤镜类型、总痣计数(TNC)、TNC 随年龄的变化以及痣的分布、大小、颜色和形态。通过 Falconer 估计评估这些特征的遗传力。

结果

在比较 MZ 和 DZ 双胞胎时,TNC、直径为 5.0-7.9 毫米的痣数量、浅褐色痣的计数、背部和防晒部位的痣、以及具有“非特异性”皮肤镜模式的痣存在显著差异。

结论

本研究强烈支持 TNC 以及 TNC 变化、中等大小痣的数量、浅褐色痣、特定部位和某些皮肤镜特征具有遗传成分。这些特征应被痣监测计划考虑,并进一步研究以确定候选基因与临床和皮肤镜模式相关联,同时进行黑色素瘤风险分层。

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