ArticleBMC medical genetics2019
Intronic polymorphisms in genes LRFN2 (rs2494938) and DNAH11 (rs2285947) are prognostic indicators of esophageal squamous cell carcinoma.
Article in BMC medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 11 citations in OpenAlex.
- PLCXD2 expression relates to the immune microenvironment and prognosis of head and neck squamous cell carcinoma: a retrospective cohort study.Translational cancer research · 2025Article
- Tiny Fighter, Fierce Disease: Coexistence of Anaplastic Large Cell Lymphoma with Situs Inversus Totalis.Indian journal of surgical oncology · 2025Article
- Two novel SNPs rs1736952 and rs17354984 are highly associated with uveitis in ankylosing spondylitis.Journal of the Chinese Medical Association : JCMA · 2025Article
- Impact of genomic and epigenomic alterations of multigene on a multicancer pedigree.Cancer medicine · 2024Article
- Single Nucleotide Polymorphisms (SNPs) in the Shadows: Uncovering their Function in Non-Coding Region of Esophageal Cancer.Current pharmaceutical biotechnology · 2024Review
- LRFN2 binding to NMDAR inhibits the progress of ESCC via regulating the Wnt/β-Catenin and NF-κB signaling pathway.Cancer science · 2022Article
- Epithelial-mesenchymal transition-related long noncoding RNAs in gastric carcinoma.Frontiers in molecular biosciences · 2022Review
- Gallbladder Adenosquamous Cancer with Situs Inversus Totalis: A Case Report and Literature Review.OncoTargets and therapy · 2021Article
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7 authors at 2 institutions in 1 country.
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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.
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