In:
Pigment Cell & Melanoma Research, Wiley, Vol. 26, No. 5 ( 2013-09), p. 666-676
Abstract:
The presence of a high nevus number is the strongest phenotypic predictor of melanoma risk. Here, we describe the results of a three‐stage study directed at identifying risk variants for the high nevus phenotype. At the first stage, 263 melanoma cases from Barcelona were genotyped for 223 single‐nucleotide polymorphisms ( SNP s) in 39 candidate genes. Seven SNP s in the PAX 3 gene were found to be significantly associated with nevus number under the additive model. Next, the associations for seven PAX 3 variants were evaluated in 1217 melanoma cases and 475 controls from Leeds; and in 3054 healthy twins from Twins UK . Associations with high nevus number were detected for rs6754024 (P values 〈 0.01) in the Barcelona and Leeds datasets and for rs2855268 (P values 〈 0.01) in the Barcelona and the Twins UK sets. Associations (P values 〈 0.001) in the opposite direction were detected for rs7600206 and rs12995399 in the Barcelona and Twins UK sets. This study suggests that SNP s in PAX 3 are associated with nevus number, providing support for PAX 3 as a candidate nevus gene. Further studies are needed to examine the role of PAX 3 in melanoma susceptibility.
Type of Medium:
Online Resource
ISSN:
1755-1471
,
1755-148X
DOI:
10.1111/pcmr.2013.26.issue-5
Language:
English
Publisher:
Wiley
Publication Date:
2013
detail.hit.zdb_id:
2425880-5