|melanoma, squamous cell carcinoma|
|| 3x increased risk of melanoma
|| 1.7x increased risk of melanoma; increased risk of squamous cell carcinoma
|?|| (A;A) (A;G) (G;G) ||28|
[PMID 18488026] A total of 2,019 cutaneous melanoma cases and 2,105 controls (Australians of European descent) were included in this genome-wide pooling association study. Using pooling, a new melanoma risk locus was identified on chromosome 20 (rs910873 and rs1885120; combined P < 1E-15. The per allele odds ratio was 1.75 (95% CI, 1.53-2.01), with evidence for stronger association in early-onset cases (age ≤40 OR, 1.83 (95% CI, 1.39-2.41); age >40 OR, 1.30 (95% CI, 1.00-1.69)).
|| [PMID 18488026]
| Risk Allele
| 95% CI
|Desc||MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7; CMM7|
] This study, which was conducted within the Nurses' Health Study, included 492 cases of non-melanoma skin cancer (NMSC; basal cell and squamous cell carcinomas) and 619 controls. The subjects were all Caucasian women, and the follow-up period was 28 years. rs910873, an ASIP gene-related SNP, was found to be associated with an increased number of NMSCs: age-adjusted odds ratio (OR): 1.43 (95% CI, 1.09–1.89) (p = 0.01). A pooled analysis of 1507 NMSC cases and 4335 controls confirmed that rs910873 was associated with an increased risk of NMSC (age-adjusted OR, 1.35; 95% CI, 1.20-1.53; p = 8.4E-7).
[PMID 19209086] Polymorphisms in the syntaxin 17 gene are not associated with human cutaneous malignant melanoma.
[PMID 19578364] Genome-wide association study identifies three loci associated with melanoma risk.
[PMID 19995372] Similarly to the study mentioned above (
[PMID 21221757] ) this nested case-control study was based on the Nurses Health Study (NHS) and examined the correlation between rs910873 and skin cancer in a Caucasian population. This study included 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCS) cases, and 870 age-matched controls. rs910873 was found to be significantly associated with increased risks of melanoma and SCC (but not BSC) in both additive (additive OR for melanoma, 1.67; 95% CI, 1.19–2.34; additive OR for SCC, 1.51; 95% CI, 1.09-2.10) and dominant models (G;A or A;A; dominant OR for melanoma, 1.81; 95% CI, 1.23-2.67; dominant OR for SCC, 1.70; 95% CI, 1.19-2.43). P for trends = 0.01 and 0.003 for melanoma and SCC, respectively.
[PMID 20224305] Modest association of malignant melanoma with the rs910873 and rs1885120 markers on chromosome 20: a population-based study.
|| Insufficiently evaluated pathogenic
[PMID 23393597] Replication and Predictive Value of SNPs Associated with Melanoma and Pigmentation Traits in a Southern European Case-Control Study
[PMID 22628150] Variants at chromosome 20 (ASIP locus) and melanoma risk.