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 TP53 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 (P= 0.08) and P allele (P = 0.07) of p.R72P polymorphism was marginally associated with increased risk of oesophageal cancer. A1A2 genotype (P= 0.06) and A2 allele (P= 0.07) of PIN3 Ins16bp polymorphism was marginally associated with decreased risk of oesophageal cancer in male group. A1A2–GA genotype combination (P= 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 (P= 0.02) of p.R72P and r.13494g>a polymorphisms and RP–A1A1–GG genotype combination (P= 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; r2 = 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 (P= 0.08). Replication of these findings in independent cohorts may be insightful for the role of TP53 in oesophageal cancer pathogenesis.

中文翻译：

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食管癌患者 5 个 TP53 多态性的连锁不平衡和单倍型

本研究的目的是评估 p.R72P、PIN3 Ins16bp、p.P47S、p.R213R 和 r.13494g 的连锁不平衡（LD）> TP53 多态性及其单倍型与旁遮普省患者食管癌风险的关联，印度西北部。共分析了 466 个样本，包括 233 名食管癌患者和 233 名健康个体。数据分析揭示了性别特异性关联。在女性组中，p.R72P 多态性的精氨酸-脯氨酸 (RP) 基因型 (P = 0.08) 和 P 等位基因 (P = 0.07) 与食管癌风险增加略有关联。PIN3 Ins16bp 多态性的 A1A2 基因型（P=0.06）和 A2 等位基因（P=0.07）与男性组食管癌风险降低略有相关。PIN3 和 r.13494g 的 A1A2-GA 基因型组合（P=0.04）> a 多态性与男性组食管癌风险降低显着相关。在女性组中，p.R72P和r.13494g的PP-GA基因型组合（P=0.02）>a多态性，p.R72P、PIN3和r.13494g的RP-A1A1-GG基因型组合（P=0.04）>a多态性与食管癌风险增加显着相关。我们观察到两个内含子多态性 PIN3 Ins16bp 和 r.13494g>a（D' = 0.90；r2 = 0.68）之间的中度 LD。单倍型分析显示，当考虑性别时，没有一种单倍型组合与食管癌风险相关。基于性别的分层显示 p.R72P、PIN3 Ins16bp、p.P47S、p.R213R 和 r.13494g>a 多态性的 P-A2-PAA 单倍型与男性组食管癌风险降低略有相关（P= 0.08）。