Replication of associations between GWAS SNPs and melanoma risk in the population architecture using genomics and epidemiology (PAGE) study

Journal of Investigative Dermatology

Volumn 134, Issue 7, 2014, Pages 2049-2052

  Kocarnik, Jonathan M ^a   Park, Sungshim Lani ^b   Han, Jiali ^c,d   Dumitrescu, Logan ^e,f   Cheng, Iona ^g   Wilkens, Lynne R ^b   Schumacher, Fredrick R ^h   Kolonel, Laurence ^b   Carlson, Chris S ^a   Crawford, Dana C ^e,f   Goodloe, Robert J ^e   Dilks, Holli ^e   Baker, Paxton ^e   Richardson, Danielle ^e   Ambite, José Luis ⁱ   Song, Fengju ^c,j   Quresh, Abrar A ^c   Zhang, Mingfeng ^c   Duggan, David ^k   Hutter, Carolyn ^l   Hindorff, Lucia A ^m   Bush, William S ^e   Kooperberg, Charles ^a   Le Marchand, Loic ^b   Peters, Ulrike ^a   more..

^a Fred Hutchinson Cancer Research Center   (United States)

^b UNIVERSITY OF HAWAII CANCER CENTER   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^f VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g CANCER PREVENTION INSTITUTE OF CALIFORNIA   (United States)

^h UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

ⁱ UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^j TIANJIN MEDICAL UNIVERSITY   (China)

^k TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^l NATIONAL CANCER INSTITUTE   (United States)

^m NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; CANCER RISK; CANCER SURVIVAL; ELECTRONIC MEDICAL RECORD; FOLLOW UP; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEREDITY; HUMAN; LETTER; MELANOMA; PRIORITY JOURNAL; RADIATION EXPOSURE; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN PIGMENTATION;

AGED; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MELANOMA; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SKIN NEOPLASMS;

EID: 84902549610     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2014.53     Document Type: Letter

References (18)

1. Bishop DT, Demenais F, Iles MM et al. (2009) Genome-wide association study identifies three loci associated with melanoma risk. Nat Genet 41: 920-5
2. Brown KM, Macgregor S, Montgomery GW et al. (2008) Common sequence variants on 20q11.22 confer melanoma susceptibility. Nat Genet 40: 838-40
3. Cook AL, Chen W, Thurber AE et al. (2009) Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci. J Invest Dermatol 129: 392-405
4. Duffy DL, Zhao ZZ, Sturm RA et al. (2010) Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. J Invest Dermatol 130: 520-8
5. Falchi M, Bataille V, Hayward NK et al. (2009) Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. Nat Genet 41: 915-9
6. Fernandez LP, Milne RL, Pita G et al. (2008) SLC45A2: a novel malignant melanoma-associated gene. Hum Mutat 29: 1161-7
7. Gerstenblith MR, Shi J, Landi MT (2010) Genomewide association studies of pigmentation and skin cancer: a review and meta-analysis. Pigment Cell Melanoma Res 23: 587-606
8. Gruber SB, Armstrong BK (2006) Cutaneous and ocular melanoma. In: Schottenfeld D, Fraumeni JF (eds) Cancer Epidemiology and Prevention, 3rd edn. Oxford University Press: USA: New York, NY, 1126-229
9. Guedj M, Bourillon A, Combadieres C et al. (2008) Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. Hum Mutat 29: 1154-60
10. Howlader NNA, Krapcho M, Garshell J et al. (eds) (2013) SEER Cancer Statistics Review, 1975- 2010 , Accessed based on November 2012 SEER data submission, posted to the SEER website
11. Joosse A, de Vries E, Eckel R et al. (2011) Gender differences in melanoma survival: female patients have a decreased risk of metastasis. J Invest Dermatol 131: 719-26
12. Kim NH, Cheong KA, Lee TR et al. (2012) PDZK1 upregulation in estrogen-related hyperpigmentation in melasma. J Invest Dermatol 132: 2622-31
13. Kondo T, Hearing VJ (2011) Update on the regulation of mammalian melanocyte function and skin pigmentation. Expert Rev Dermatol 6: 97-108
14. Matise TC, Ambite JL, Buyske S et al. (2011) The Next PAGE in understanding complex traits: design for the analysis of Population Architecture Using Genetics and Epidemiology (PAGE) Study. Am J Epidemiol 174: 849-59
15. Randall JC, Winkler TW, Kutalik Z et al. (2013) Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet 9:e1003500
16. Scherer D, Kumar R (2010) Genetics of pigmentation in skin cancer-a review. Mutat Res 705: 141-53
17. Stokowski RP, Pant PV, Dadd T et al. (2007) A genomewide association study of skin pigmentation in a South Asian population. Am J Hum Genet 81: 1119-32
18. Tadokoro T, Rouzaud F, Itami S et al. (2003) The inhibitory effect of androgen and sexhormone- binding globulin on the intracellular cAMP level and tyrosinase activity of normal human melanocytes. Pigment Cell Res 16: 190-7