Association of TMPRSS2 gene polymorphism (rs12329760) in prostate cancer patients with consanguinity and family history of prostate cancer
DOI:
https://doi.org/10.52206/jsmc.2026.16.1.1096Abstract
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
References
Raychaudhuri R, Lin DW, Montgomery RB. Prostate cancer: a review. JAMA. 2025;333(16):1433-1446. https://doi.org/10.1001/jama.2025.0228
Nanda S, Dash DK, Sahu AK, Aboulthana WM, Tripathi V, Chanda R, et al. Prostate cancer: a short discussion. J Hosp Pharm. 2022;17(1):12-19.
Zheng G, Sundquist J, Sundquist K, Ji J. Prostate cancer incidence and survival in relation to prostate cancer as a second cancer in relatives. Cancer Med. 2022;11(10):2117-2124. https://doi.org/10.1002/cam4.4591
Bressi B, Iotti C, Cagliari M, Fugazzaro S, Cavuto S, Bergamaschi FA, et al. Physical exercise habits, lifestyle behaviors, and motivation to change among men with prostate cancer: a cross-sectional study. Support Care Cancer. 2022;30(6):5017-5026. https://doi.org/10.1007/s00520-022-06911-z
Berenguer CV, Pereira F, Câmara JS, Pereira JA. Underlying features of prostate cancer statistics, risk factors, and emerging methods for its diagnosis. Curr Oncol. 2023;30(2):2300-2321. https://doi.org/10.3390/curroncol30020178
Porcaro AB, Siracusano S, de Luyk N, Corsi P, Sebben M, Tafuri A, et al. Clinical factors stratifying the risk of tumor upgrading to high-grade disease in low-risk prostate cancer. Tumori. 2018;104(2):111-115. https://doi.org/10.5301/tj.5000580
Jeon J, Kim JH, Ha JS, Yang WJ, Cho KS, Kim DK. Impact of family history of prostate cancer on disease progression in patients undergoing active surveillance: a systematic review and meta-analysis. Investig Clin Urol. 2024;65(4):315-324. https://doi.org/10.4111/icu.20240053
Fang L, Li D, Yin J, Pan H, Ye H, Bowman J, et al. TMPRSS2-ERG promotes the initiation of prostate cancer by suppressing oncogene-induced senescence. Cancer Gene Ther. 2022;29(10):1463-1476. https://doi.org/10.1038/s41417-022-00454-5
Thunders M, Delahunt B. Gene of the month: TMPRSS2 (transmembrane serine protease 2). J Clin Pathol. 2020;73(12):773-776. https://doi.org/10.1136/jclinpath-2020-206987
The 1000 Genomes Project Consortium. A global reference for human genetic variation. Nature. 2015;526(7571):68-74. https://doi.org/10.1038/nature15393
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434-443. https://doi.org/10.1038/s41586-020-2308-7
Primer3Plus. Pick primers. https://www.primer3plus.com
Applied Biosystems. Veriti™ thermal cycler user guide. Foster City (CA): Thermo Fisher Scientific.
Allemailem KS, Almatroudi A, Alrumaihi F, Almansour NM, Aldakheel FM, Rather RA, et al. Single nucleotide polymorphisms in prostate cancer: implications in diagnostics and therapeutics. Am J Transl Res. 2021;13(4):3868-3889.
Bhanushali A, Rao P, Raman V, Kokate P. Status of TMPRSS2-ERG fusion in prostate cancer patients from India: correlation with clinicopathological details and TMPRSS2 Met160Val polymorphism. Prostate Int. 2018;6(4):145-150. https://doi.org/10.1016/j.prnil.2018.03.004
Tan SH, Petrovics G, Srivastava S. Prostate cancer genomics: recent advances and the prevailing underrepresentation from racial and ethnic minorities. Int J Mol Sci. 2018;19(4):1255. https://doi.org/10.3390/ijms19041255
Brook MN, Raghallaigh HN, Govindasami K, Dadaev T, Rageevakumar R, Keating D, et al. Family history of prostate cancer and survival outcomes in the UK Genetic Prostate Cancer Study. Eur Urol. 2023;83(3):257-266. https://doi.org/10.1016/j.eururo.2022.11.019
Ang M, Borg M, O’Callaghan ME. Survival outcomes in men with a positive family history of prostate cancer: a registry-based study. BMC Cancer. 2020;20(1):1-8. https://doi.org/10.1186/s12885-020-07174-9
Graham NJ. Family history, race/ethnicity, and genetic risk in prostate cancer detection and outcomes: considerations in PSA-based screening. Urol Oncol. 2025;43:29-40. https://doi.org/10.1016/j.urolonc.2024.06.002
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