Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma

被引：78

作者：

Asgari, Maryam M. ^{[1
,2
]}

Wang, Wei ^{[3
]}

Ioannidis, Nilah M. ^{[3
,4
]}

Itnyre, Jacqueline ^{[3
]}

Hoffmann, Thomas ^{[5
,6
]}

Jorgenson, Eric ^{[2
]}

Whittemore, Alice S. ^{[3
]}

机构：

[1] Massachusetts Gen Hosp, Dept Dermatol, Boston, MA 02114 USA

[2] Kaiser Permanente No Calif, Div Res, Oakland, CA USA

[3] Stanford Univ, Sch Med, Dept Hlth Res & Policy, Stanford, CA 94305 USA

[4] Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA

[5] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA

[6] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2016年 / 136卷 / 05期

关键词：

GENOME-WIDE ASSOCIATION; SKIN-CANCER RISK; GENETIC EPIDEMIOLOGY RESEARCH; MELANOMA SUSCEPTIBILITY; HUMAN PIGMENTATION; MALIGNANT-MELANOMA; COMMON VARIANTS; COLOR VARIATION; RECEPTOR GENE; ADULT HEALTH;

D O I：

10.1016/j.jid.2016.01.013

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

We report a genome-wide association study of cutaneous squamous cell carcinoma conducted among non-Hispanic white members of the Kaiser Permanente Northern California health care system. The study includes a genome-wide screen of 61,457 members (6,891 cases and 54,566 controls) genotyped on the Affymetrix Axiom European array and a replication phase involving an independent set of 6,410 additional members (810 cases and 5,600 controls). Combined analysis of screening and replication phases identified 10 loci containing single-nucleotide polymorphisms (SNPs) with P-values < 5 x 10(-8). Six loci contain genes in the pigmentation pathway; SNPs at these loci appear to modulate squamous cell carcinoma risk independently of the pigmentation phenotypes. Another locus contains HLA class II genes studied in relation to elevated squamous cell carcinoma risk following immunosuppression. SNPs at the remaining three loci include an intronic SNP in FOXP1 at locus 3p13, an intergenic SNP at 3q28 near TP63, and an intergenic SNP at 9p22 near BNC2. These findings provide insights into the genetic factors accounting for inherited squamous cell carcinoma susceptibility.

引用

页码：930 / 937

页数：8

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