Title:Association of EGF rs4444903 and XPD rs13181 Polymorphisms with Cutaneous Melanoma in Caucasians
VOLUME: 11 ISSUE: 6
Author(s):Jun Liu, Jia Song, Mei-Yan Wang, Lin He, Lei Cai and Kuo-Chen Chou
Affiliation:Gordon Life Science Institute, Boston, MA 02478, USA, Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiaotong University; 55 Guangyuan Xi Road, Shanghai 200240, China.
Keywords:Cutaneous melanoma, EGF, XPD, SNP.
Abstract:Cutaneous melanoma (CM) is a malignant skin cancer with the high incidence in whiteskinned
populations. Host genetic factors (such as: genes in nucleotide excision repair system or cell proliferation regulation
system) interacted with ultraviolet radiation are potential reasons for CM. Previous studies about associations between
CM and the rs4444903 (+61A>G) in the Epidermal growth factor gene (EGF) or rs13181 (+35931 A>C) in the
xeroderma pigmentosum group D gene (XPD) have produced inconsistent results. To clarify these associations, metaanalyses
of available candidate case-control association studies about Caucasians were performed. Data of each study
were gathered according to the “Quality-Evaluation Score” (Ver.1.0). Finally, the meta-analysis with 2167 cases/4211
controls showed that the EGF rs4444903 had no significant association with CM (p>0.05), while the analysis with 3,492
cases/5,381 controls indicated the A allele of XPD rs13181 was significantly associated with CM (odds ratio= 0.93, 95%
CI: 0.87–0.99; p=0.019). These results are also supported with linkage disequilibrium (LD) structure analysis. The current
meta-analyses results suggest that the XPD gene, but not the EGF gene, has contributed to CM susceptibility, and XPD is
a possible drug target.
