Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis

被引：95

作者：

Gerstenblith, Meg R. ^{[1
]}

Shi, Jianxin ^{[2
]}

Landi, Maria Teresa ^{[1
]}

机构：

[1] NCI, Genet Epidemiol Branch, Div Canc Epidemiol & Genet, NIH,Dept Hlth & Human Serv, Bethesda, MD 20892 USA

[2] NCI, Biostat Branch, Div Canc Epidemiol & Genet, NIH,Dept Hlth & Human Serv, Bethesda, MD 20892 USA

来源：

PIGMENT CELL & MELANOMA RESEARCH | 2010年 / 23卷 / 05期

关键词：

GWAS (genome-wide association study); pigmentation; skin cancer; melanoma; basal cell carcinoma; nevi; meta-analysis; MELANOCORTIN-1 RECEPTOR MC1R; BASAL-CELL CARCINOMA; CUTANEOUS MALIGNANT-MELANOMA; GENE VARIANTS; KIT-LIGAND; EYE-COLOR; SUSCEPTIBILITY LOCI; PANCREATIC-CANCER; GERMLINE MUTATION; SEQUENCE VARIANTS;

D O I：

10.1111/j.1755-148X.2010.00730.x

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

P>Recent genome-wide association studies (GWAS) identified genetic loci associated with pigmentation, nevi, and skin cancer. We performed a review and meta-analysis of GWAS results, grouping them into four categories: (i) loci associated with pigmentation (hair, eye, and/or skin color), cutaneous UV-response (sun sensitivity and/or freckling), and skin cancer; (ii) loci associated with nevi and melanoma; (iii) loci associated with pigmentation and/or cutaneous UV-response but not skin cancer; and (iv) loci associated distinctly with skin cancer, mostly basal cell carcinoma, but not pigmentation or cutaneous UV-response. These findings suggest at least two pathways for melanoma development (via pigmentation and via nevi), and two pathways for basal cell carcinoma development (via pigmentation and independent of pigmentation). However, further work is necessary to separate the association with skin cancer from the association with pigmentation. As with any GWAS, the identified loci may not include the causal variants and may need confirmation by direct genome sequencing.

引用

页码：587 / 606

页数：20

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