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oesophageal cancer; TP53 polymorphism; polymorphism; haplotype; linkage disequilibrium.

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.

VASUDHA SAMBYAL¹ SUKHPREET KAUR¹ MRIDU MANJARI² MANJIT SINGH UPPAL³ NEETI RAJAN SINGH³ MEENA SUDAN⁴ KAMLESH GULERIA¹

1. Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University, Amritsar 143 005, India
2. Department of Pathology, Sri Guru Ram Das Institute of Medical Sciences and Research, Amritsar 143 005, India
3. Department of Surgery, Sri Guru Ram Das Institute of Medical Sciences and Research, Amritsar 143 005, India
4. Department of Radiotherapy, Sri Guru Ram Das Institute of Medical Sciences and Research, Amritsar 143 005, India

Published

16 July 2020

Manuscript received

5 October 2019

Manuscript revised

15 May 2020

Accepted

19 May 2020

• 0062_suppl.docx