Association of TMPRSS2 gene polymorphism (rs12329760) in prostate cancer patients with consanguinity and family history of prostate cancer

Background: Consanguinity and family history of a disease are found to be a risk factor for many congenital diseases. Prostate cancer relationship with consanguineous marriages and family history of prostate cancer has shown mixed results in previous studies. Objective: To find out the association of consanguinity and positive family history of prostate cancer with TMPRSS2 gene polymorphism (rs12329760). Study Design: A case-control study Place and Duration of study: It was carried out at the Biochemistry department of Islamic International Medical College Rawalpindi. Data collection was done from Railway Hospital Rawalpindi and National Instituite of Rehabilitative Medicine Islamabad from October-2021 to September-2022. Methodology: Sample size was 200, with 100 cases of prostate cancer and 100 controls. Age group was above 50 years. DNA was extracted by Chelax method after blood sampling. Polymerase chain reaction was carried out to find out the desired allele frequencies using specific designed primers. Results: Significant association was found with CT-genotype of TMPRSS2 gene (rs12329760) and family history of prostate cancer with OR: 3.23(95% CI: 1.17—8.90) and p- value 0.03.Similarly CT-genotype of this gene had shown significant association with parental consanguinity having OR: 2.89 (95% CI: 1.09-7.6) and p-value 0.03. Conclusion: This study found significant association of consanguinity and family history of prostate cancer in prostate cancer patients with TMPRSS2 gene polymorphism (rs12329760). Key Words: Prostate Cancer ,TMPRSS2 Gene, Consanguinity, Family History of Prostate Cancer