Genetic variants in the calcium signaling pathway genes are associated with cutaneous melanoma-specific survival.
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Remodeling or deregulation of the calcium signaling pathway is a relevant hallmark of cancer including cutaneous melanoma (CM). In the present study, using data from a published genome-wide association study (GWAS) from The University of Texas M.D. Anderson Cancer Center, we assessed the role of 41,377 common single nucleotide polymorphisms (SNPs) of 167 calcium signaling pathway genes in CM survival. We used another GWAS from Harvard University as the validation dataset. In the single-locus analysis, 1,830 SNPs were found to be significantly associated with CM-specific survival (CMSS) (P ≤ 0.050 and false-positive report probability ≤ 0.2), of which nine SNPs were validated in the Harvard study (P ≤ 0.050). Among these, three independent SNPs (i.e., PDE1A rs6750552 T>C, ITPR1 rs6785564 A>G and RYR3 rs2596191 C>A) had a predictive role in CMSS, with a meta-analysis derived hazards ratio (HR) of 1.52 [95% confidence interval (CI) = 1.19-1.94, P = 7.21×10-4]], 0.49 (0.33-0.73, 3.94×10-4) and 0.67 (0.53-0.86, 0.0017), respectively. Patients with an increasing number of protective genotypes had remarkably improved CMSS. Additional expression quantitative trait loci (eQTL) analysis showed that these genotypes were also significantly associated with mRNA expression levels of the genes. Taken together, these results may help us to identify prospective biomarkers in the calcium signaling pathway for CM prognosis.
Published Version (Please cite this version)10.1093/carcin/bgy188
Publication InfoXie, Jichun; Wei, Qingyi; Wang, Xiaomeng; Liu, Hongliang; Xu, Yinghui; Zhu, Dakai; ... Song, Yanqiu (2018). Genetic variants in the calcium signaling pathway genes are associated with cutaneous melanoma-specific survival. Carcinogenesis. 10.1093/carcin/bgy188. Retrieved from https://hdl.handle.net/10161/18497.
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Professor in Population Health Sciences
Qingyi Wei, MD, PhD, Professor in the Department of Medicine, is Associate Director for Cancer Control and Population Sciences, Co-leader of CCPS and Co-leader of Epidemiology and Population Genomics (Focus Area 1). He is a professor of Medicine and an internationally recognized epidemiologist focused on the molecular and genetic epidemiology of head and neck cancers, lung cancer, and melanoma. His research focuses on biomarkers and genetic determinants for the DNA repair deficient phenotype and
Associate Professor of Biostatistics & Bioinformatics
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