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Abstract
BackgroundGenome wide association study (GWAS) has become the major means to screen for the genetic variants associated with risk and prognosis of different diseases. A recent GWAS has discovered three novel intronic single nucleotide polymorphisms in genes LRFN2 (rs2494938), DNAH11 (rs2285947) and PLCXD2 (rs2399395) that are associated with altered risk of esophageal squamous cell carcinoma (ESCC) among Han Chinese populations. However, the prognostic significance of these variations in ESCC remains unclear.MethodsTo investigate the association of three novel single nucleotide polymorphisms (rs2494938, rs2285947, rs2399395) with the prognosis of ESCC patients, we recruited 287 ESCC patients treated with surgical resection and evaluated the potential significance of the three polymorphisms through Kaplan-Meier survival analysis, log-rank test, and Cox proportional hazards regression models.ResultsThe ESCC patients carrying genotype AA at rs2494938 had worse survival and genotype GG at 2285947 had better prognosis (Log-rank P = 0.003 and Log-rank P = 0.037, respectively). In addition, rs2494938 at 6p21.1 was independently associated with overall survival of ESCC patients in recessive model [AA vs. GG/GA, HR = 3.12, 95% CI = 1.43–6.83, P = 0.004], rs2285947 at 7p15.3 was independently associated with overall survival of ESCC patients in both dominant model [AA/GA vs. GG, HR = 1.59, 95% CI = 1.02–2.49, P = 0.042] and additive model [AA vs. GA vs. GG, HR = 1.45, 95% CI = 1.05–2.01, P = 0.025].ConclusionsThis study demonstrated that the polymorphisms rs2494938 at 6p21.1 and rs2285947 at 7p15.3 may serve as independent prognostic biomarkers for ESCC, implying the potential biological role of their related genes (LRFN2 and DNAH11) in the process of ESCC development.
Highlights
Genome wide association study (GWAS) has become the major means to screen for the genetic variants associated with risk and prognosis of different diseases
Data generated by GWAS have expanded our understanding of genetic variants that can act as prognostic markers for multiple cancers [4], such as the Single nucleotide polymorphism (SNP) rs10484761 in gastric cancer [5], SNP of XRCC1 Arg399Gln both in non-small cell lung cancer [6] and breast cancer [7], the GNAS1 T393C polymorphism in gastric cancer [8], laryngeal carcinoma [9] and breast cancer
We further explored the association between three SNPs and overall survival in esophageal squamous cell carcinoma (ESCC) and discovered that rs2494938 in LRFN2 and rs2285947 in DNAH11 might emerge as potential prognostic factors of ESCC in a Chinese population
Summary
Genome wide association study (GWAS) has become the major means to screen for the genetic variants associated with risk and prognosis of different diseases. As a powerful and universal strategy, genome-wide association studies (GWAS) has been used to uncover the susceptibility of complex diseases including malignancies [2, 3]. Data generated by GWAS have expanded our understanding of genetic variants that can act as prognostic markers for multiple cancers [4], such as the SNP rs10484761 in gastric cancer [5], SNP of XRCC1 Arg399Gln both in non-small cell lung cancer [6] and breast cancer [7], the GNAS1 T393C polymorphism in gastric cancer [8], laryngeal carcinoma [9] and breast cancer. Polymorphisms of several genes are expected to be potential markers for diagnosis and prognosis of ESCC, which will contribute to the development of novel therapeutic strategies for this disease. Genome-wide association study identified several polymorphisms in SLC39A6 that were associated with length of survival in ESCC [13]
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