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与中国汉族人群皮肤衰老相关的基因变异

Genetic variants associated with skin aging in the Chinese Han population.

作者信息

Gao Wenshan, Tan Jingze, Hüls Anke, Ding Anan, Liu Yu, Matsui Mary S, Vierkötter Andrea, Krutmann Jean, Schikowski Tamara, Jin Li, Wang Sijia

机构信息

Chinese Academy of Sciences Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, China; University of Chinese Academy of Sciences, Beijing 100049, China.

State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai 200438, China.

出版信息

J Dermatol Sci. 2017 Apr;86(1):21-29. doi: 10.1016/j.jdermsci.2016.12.017. Epub 2016 Dec 22.

Abstract

BACKGROUND

The progression and manifestation of human skin aging has a strong genetic basis; however, most of the supporting evidence has been gathered in Caucasian populations. The genetic contribution to the variation in skin aging in non-Caucasian populations is poorly understood.

OBJECTIVE

To investigate the genetic risk factors of relevance for skin aging in East Asians, we conducted the first candidate gene study for signs of skin aging in Han Chinese.

METHODS

We collected skin aging and genotype data in 502 female Han Chinese from the Taizhou cohort. We evaluated skin aging by the validated skin aging score SCINEXA™. Confounding factors were assessed through a questionnaire. We obtained the genotype data for 21 candidate SNPs and for a further 509 SNPs from 16 related candidate genes. Associations were tested by linear and logistic regression analyses and adjusted for potential confounders.

RESULTS

Our candidate study found a significant association between SNP rs2066853 in exon 10 of the aryl hydrocarbon receptor gene AHR and crow's feet. In addition, we found a significant association between SNP rs10733310 in intron 5 of BNC2 and pigment spots on the arms, and between SNP rs11979919, 3kb downstream of COL1A2, and laxity of eyelids.

CONCLUSIONS

Our results identified genetic risk factors for signs of skin aging (pigmentation, wrinkles or laxity) in Han Chinese. We also found that the manifestation of skin aging is further modified by anatomical site. Together with previous work, our results also suggest that different genetic variants could be responsible for distinct skin aging signs characteristic of Caucasians compared to East Asians.

摘要

背景

人类皮肤衰老的进程和表现具有强大的遗传基础;然而,大多数支持证据是在白种人群体中收集的。非白种人群体中皮肤衰老变异的遗传贡献尚不清楚。

目的

为了研究东亚人皮肤衰老相关的遗传风险因素,我们首次对汉族人群皮肤衰老迹象进行了候选基因研究。

方法

我们从泰州队列中收集了502名汉族女性的皮肤衰老和基因型数据。我们通过经过验证的皮肤衰老评分SCINEXA™评估皮肤衰老。通过问卷评估混杂因素。我们获得了21个候选单核苷酸多态性(SNP)以及来自16个相关候选基因的另外509个SNP的基因型数据。通过线性和逻辑回归分析测试关联,并对潜在混杂因素进行调整。

结果

我们的数据发现芳烃受体基因AHR第10外显子中的SNP rs2066853与鱼尾纹之间存在显著关联。此外,我们发现BNC2第5内含子中的SNP rs10733310与手臂上色素斑之间、以及COL1A2下游3kb处的SNP rs11979919与眼睑松弛之间存在显著关联。

结论

我们的结果确定了汉族人群皮肤衰老迹象(色素沉着、皱纹或松弛)的遗传风险因素。我们还发现皮肤衰老的表现在不同解剖部位存在差异。与之前的研究结果一起,我们的结果还表明,与东亚人相比,不同的基因变异可能导致白种人特有的不同皮肤衰老迹象。

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