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首页> 外文期刊>Journal of genetics >Linkage disequilibrium and haplotypes of five TP53 polymorphisms in oesophageal cancer patients
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Linkage disequilibrium and haplotypes of five TP53 polymorphisms in oesophageal cancer patients

机译：在食管癌患者中的五个TP53多态性的联动不平衡和单倍型

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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, argininea??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. A1A2a??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, PPa??GA genotype combination (P = 0.02) of p.R72P and r.13494g[a polymorphisms and RPa??A1A1a??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.
机译：本研究的目的是评估p.R72P，PIN3 INS16BP，P.P47s，P.R213R和R.3494G和TP53的多态性与旁遮普患者的癌症癌症风险的多态性的联系不平衡（LD）及其单倍型癌症风险，西北印度。分析了共有466个样品，其中包括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协会。在雌性组中，P.R72P多态性的脯氨酸（RP）基因型（P = 0.08）和P等位基因（P = 0.07）与摄影癌症的风险增加略微相关。 A1A2基因型（P = 0.06）和A2等位基因（P = 0.07）的PIN3 INS16BP多态性与男性组中食管癌的风险降低略微相关。 A1A2A ?? GA基因型组合（P = 0.04）PIN3和R.13494G [多态性与男性组食管癌的风险显着显着相关。在雌性组，PPA ?? GA基因型组合（P = 0.02）的p.R72P和R.13494G [多态性和RPAΔωA1a1aΔωa1a1aΔω，p.r72p，pin3和r的gg基因型组合（p = 0.04）。 13494g [多态性与摄影癌症的风险增加显着相关。我们观察到两种内部多态性PIN3 INS16BP和R.13494G之间的中等LD [A（Dα'= 0.90; R2 = 0.68）。单倍型分析表明，当考虑两者的人们都有时，没有单倍型组合与食管癌风险有关。基于性别的基础上分层显示，P.R72P，PIN3 INS16BP，P.P47s，P.R213R和R.3494G和R.3494G的P-A2-PAA单倍型[r>多态性与男性组中的食管癌风险降低略微相关（P = 0.08）。在独立队列中对这些发现的复制可能对TP53在食管癌发病机制中的作用可能是有洞察力的。

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