Association of Interferon Regulatory Factor-4 Polymorphism rs12203592 With Divergent Melanoma Pathways

被引：27

作者：

Gibbs, David C. ^{[1
]}

Orlow, Irene ^{[3
]}

Bramson, Jennifer I. ^{[4
]}

Kanetsky, Peter A. ^{[5
]}

Luo, Li ^{[6
]}

Kricker, Anne ^{[7
]}

Armstrong, Bruce K. ^{[7
]}

Anton-Culver, Hoda ^{[8
]}

Gruber, Stephen B. ^{[9
]}

Marrett, Loraine D. ^{[10
]}

Gallagher, Richard P. ^{[11
]}

Zanetti, Roberto ^{[12
]}

Rosso, Stefano ^{[12
]}

Dwyer, Terence ^{[13
]}

Sharma, Ajay ^{[3
]}

La Pilla, Emily ^{[3
]}

From, Lynn ^{[14
]}

Busam, Klaus J. ^{[3
]}

Cust, Anne E. ^{[7
]}

Ollila, David W. ^{[2
,4
]}

Begg, Colin B. ^{[3
]}

Berwick, Marianne ^{[6
]}

Thomas, Nancy E. ^{[1
,2
]}

机构：

[1] Univ N Carolina, Dept Dermatol, 405 Mary Ellen Jones Bldg,CB 7287, Chapel Hill, NC 27599 USA

[2] Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USA

[3] Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, New York, NY 10065 USA

[4] Univ N Carolina, Dept Surg, Chapel Hill, NC 27599 USA

[5] H Lee Moffitt Canc Ctr & Res Inst, Dept Canc Epidemiol, Tampa, FL 33612 USA

[6] Univ New Mexico, Ctr Canc, Dept Internal Med, Albuquerque, NM 87131 USA

[7] Univ Sydney, Sydney Sch Publ Hlth, Sydney, NSW, Australia

[8] Univ Calif Irvine, Dept Epidemiol, Irvine, CA 92697 USA

[9] Univ Southern Calif, USC Norris Comprehens Canc Ctr, Los Angeles, CA 90033 USA

[10] Canc Care Ontario, Dept Populat Studies & Surveillance, Toronto, ON, Canada

[11] British Columbia Canc Agcy, Canc Control Res, Vancouver, BC, Canada

[12] Ctr Epidemiol & Prevent Oncol Piedmont, Piedmont Canc Registry, Turin, Italy

[13] Univ Oxford, Oxford Martin Sch Publ Hlth, George Inst Global Hlth, Oxford, England

[14] Womens Coll Hosp, Dept Pathol, Toronto, ON, Canada

来源：

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE | 2016年 / 108卷 / 07期

关键词：

GENOME-WIDE ASSOCIATION; MELANOCYTIC NEVI; CUTANEOUS MELANOMA; SUN EXPOSURE; SUSCEPTIBILITY LOCUS; IDENTIFIES; AMBIENT UV; BODY SITE; RISK; IRF4;

D O I：

10.1093/jnci/djw004

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Background: Solar elastosis and neval remnants are histologic markers characteristic of divergent melanoma pathways linked to differences in age at onset, host phenotype, and sun exposure. However, the association between these pathway markers and newly identified low-penetrance melanoma susceptibility loci remains unknown. Methods: In the Genes, Environment and Melanoma (GEM) Study, 2103 Caucasian participants had first primary melanomas that underwent centralized pathology review. For 47 single-nucleotide polymorphisms (SNPs) previously identified as low-penetrant melanoma risk variants, we used multinomial logistic regression to compare melanoma with solar elastosis and melanoma with neval remnants simultaneously to melanoma with neither of these markers, excluding melanomas with both markers. All statistical tests were two-sided. Results: IRF4 rs12203592 was the only SNP to pass the false discovery threshold in baseline models adjusted for age, sex, and study center. rs12203592*T was associated positively with melanoma with solar elastosis (odds ratio [OR] = 1.47, 95% confidence interval [CI] = 1.18 to 1.82) and inversely with melanoma with neval remnants (OR = 0.65, 95% CI = 0.48 to 0.87) compared with melanoma with neither marker (P-global = 3.78 x 10(-08)). Adjusting for phenotypic characteristics and total sun exposure hours did not materially affect rs12203592's associations. Distinct early-and late-onset age distributions were observed in patients with IRF4 rs12203592 [CC] and [TT] genotypes, respectively. Conclusions: Our findings suggest a role of IRF4 rs12203592 in pathway-specific risk for melanoma development. We hypothesize that IRF4 rs12203592 could underlie in part the bimodal age distribution reported for melanoma and linked to the divergent pathways.

引用

页数：9

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