Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University, Amritsar 143 005, India.
J Genet. 2020;99.
The aim of present study was to evaluate the linkage disequilibrium (LD) of p.R72P, PIN3 Ins16bp, p.P47S, p.R213R and r.13494g[a polymorphism of and their haplotypes association with oesophageal cancer risk in patients from Punjab, northwest India. A total of 466 samples, including 233 oesophageal cancer patients and 233 healthy individuals were analysed. Data analysis revealed the gender specific association. In female group, arginine-proline (RP) genotype ( = 0.08) and allele ( = 0.07) of p.R72P polymorphism was marginally associated with increased risk of oesophageal cancer. A1A2 genotype ( = 0.06) and A2 allele ( = 0.07) of PIN3 Ins16bp polymorphism was marginally associated with decreased risk of oesophageal cancer in male group. A1A2-GA genotype combination ( = 0.04) of PIN3 and r.13494g[a polymorphisms was significantly associated with decreased risk of oesophageal cancer in male group. In female group, PP-GA genotype combination ( = 0.02) of p.R72P and r.13494g[a polymorphisms and RP-A1A1-GG genotype combination ( = 0.04) of p.R72P, PIN3 and r.13494g[a polymorphisms was significantly associated with increased risk of oesophageal cancer. We observed moderate LD between two intronic polymorphisms PIN3 Ins16bp and r.13494g[a (D´ = 0.90; r = 0.68). Haplotype analysis revealed that none of the haplotype combination was associated with oesophageal cancer risk when both the genders were considered. Stratification on the basis of gender showed that P-A2-P-A-A haplotype of p.R72P, PIN3 Ins16bp, p.P47S, p.R213R and r.13494g[a polymorphisms was marginally associated with reduced oesophageal cancer risk in male group ( = 0.08). Replication of these findings in independent cohorts may be insightful for the role of in oesophageal cancer pathogenesis.
本研究旨在评估 p.R72P、PIN3Ins16bp、p.P47S、p.R213R 和 r.13494g[a 多态性与印度西北部旁遮普邦食管癌患者风险的连锁不平衡 (LD) 及其单倍型关联。共分析了 466 例样本，包括 233 例食管癌患者和 233 例健康个体。数据分析显示存在性别特异性关联。在女性组中，p.R72P 多态性的精氨酸-脯氨酸 (RP) 基因型 ( = 0.08) 和 等位基因 ( = 0.07) 与食管癌风险增加呈边缘相关。在男性组中，PIN3Ins16bp 多态性的 A1A2 基因型 ( = 0.06) 和 A2 等位基因 ( = 0.07) 与食管癌风险降低呈边缘相关。在男性组中，PIN3 和 r.13494g[a 多态性的 A1A2-GA 基因型组合 ( = 0.04) 与食管癌风险降低显著相关。在女性组中，p.R72P 和 r.13494g[a 多态性的 PP-GA 基因型组合 ( = 0.02) 和 p.R72P、PIN3 和 r.13494g[a 多态性的 RP-A1A1-GG 基因型组合 ( = 0.04) 与食管癌风险增加显著相关。我们观察到两个内含子多态性 PIN3Ins16bp 和 r.13494g[a (D´ = 0.90; r = 0.68) 之间存在中度 LD。单倍型分析显示，当考虑两个性别时，没有任何单倍型组合与食管癌风险相关。基于性别的分层显示，p.R72P、PIN3Ins16bp、p.P47S、p.R213R 和 r.13494g[a 多态性的 P-A2-P-A-A 单倍型与男性组食管癌风险降低呈边缘相关 ( = 0.08)。在独立队列中复制这些发现可能有助于了解 在食管癌发病机制中的作用。
