• MUHAMMAD WAQAR MAZHAR Department of Biotechnology and Bioinformatics, Government College University, Faisalabad, Pakistan.
  • HIRA TAHIR Department of Biotechnology and Bioinformatics, Government College University, Faisalabad, Pakistan.
  • JAVARIA MAHMOOD Department of Biotechnology and Bioinformatics, Government College University, Faisalabad, Pakistan.
  • MASOOMA BATOOL SHAHZADI Department of Biotechnology and Bioinformatics, Government College University, Faisalabad, Pakistan.
  • SAIRA SAIF Department of Biotechnology and Bioinformatics, Government College University, Faisalabad, Pakistan.


PSA, VDR gene polymorphisms, ApaI polymorphism, PCa


Prostate cancer is the third most common malignancy in Pakistani males. Vitamin D receptor (VDR) gene has been a subject of extensive pharmacogenetic research recently. Association studies between different types of cancers including prostate cancer (PCa) and VDR gene polymorphism have also great importance. Vitamin D has an anticancer effect, so VDR gene polymorphisms have got much attention. It is proposed that vitamin D deficiency may underlie the major risk factors for prostate cancer, including age, black race and genetic variation in vitamin D-binding protein. Clinical diagnosis of prostate cancer can be done by PSA and biopsy. The clinical diagnosis does not provide a definitive diagnosis of progression of PCa. Most common symptoms of prostate cancer are Nocturia (increased urination at night), difficulty in urination, Hematuria (blood in urine), and Dysuria (frequent and painful urination). It may influence sexual function, for instance, trouble in accomplishing an erection or agonizing discharge. Advance prostate cancer may spread to other organs of the body, causing pain in pelvis or ribs. In Benign prostate hyperplasia, prostate enlarges and cause urinary symptoms. Diagnosis of prostate cancer can be done by needle biopsy or DRE (digital rectal examination). In benign prostatic hypertrophy/hyperplasia (BPH), prostate continues to enlarge over time. Prostate-specific antigen (PSA) is a glycoprotein, produced by epithelial prostate cells and is unique to the prostate gland. We found ApaI CC genotypes to increase the prostate cancer risk while CA and AA show less than 50% association with the disease. ApaI polymorphism has a strong correlation with PCa than TaqI. Different VDR gene polymorphisms seem to have an association with the PCa but not consistent with other ethnic groups.


Ahmad, M., Khan, A.H., Mansoor, A. (1991): The pattern of malignant tumours in northern Pakistan. The Journal of the Pakistan Medical Association 41(11): 270-273.

Bashir, M.N. (2015): Epidemiology of Prostate Cancer. – Asian Pacific Journal of Cancer Prevention 16(13): 5137-5141.

Bhurgri, Y., Bhurgri, A., Pervez, S., Bhurgri, M., Kayani, N., Ahmed, R., Usman, A., Hasan, S.H. (2005): Cancer profile of hyderabad, Pakistan 1998-2002. – Asian Pacific Journal of Cancer Prevention 6(4): 474-480.

Bunting, P.S. (2002): Screening for prostate cancer with prostate-specific antigen: beware the biases. – Clinica Chimica Acta 315(1-2): 71-97.

Carpenter, D. (2007): 13 Research Ethics Relating to Cancer. – The Biology of Cancer 153p.

Catalona, W.J., Richie, J.P., deKernion, J.B., Ahmann, F.R., Ratliff, T.L., Dalkin, B.L., Kavoussi, L.R., MacFarlane, M.T., Southwick, P.C. (1994): Comparison of prostate specific antigen concentration versus prostate specific antigen density in the early detection of prostate cancer: receiver operating characteristic curves. – The Journal of Urology 152(6): 2031-2036.

Catalona, W.J., Smith, D.S., Ratliff, T.L., Dodds, K.M., Coplen, D.E., Yuan, J.J., Petros, J.A., Andriole, G.L. (1991): Measurement of prostate-specific antigen in serum as a screening test for prostate cancer. – New England Journal of Medicine 324(17): 1156-1161.

Chauhan, B., Sakharkar, P. (2017): Role of Vitamin D Receptor (VDR) gene polymorphism. – World Journal of Pharmacy and Pharmaceutical Sciences 6(7): 1083-1095.

Chen, R., Ren, S., Sun, Y. (2013): Genome-wide association studies on prostate cancer: the end or the beginning? – Protein & Cell 4(9): 677-686.

Cohen, R.J., Shannon, B.A., Phillips, M., Moorin, R.E., Wheeler, T.M., Garrett, K.L. (2008): Central Zone Carcinoma of the Prostate Gland: A Distinct Tumor Type With Poor Prognostic Features. – The Journal of Urology 179(5): 1762-1767.

Fan, Y., Murphy, T.B., Byrne, J.C., Brennan, L., Fitzpatrick, J.M., Watson, R.W.G. (2011): Applying random forests to identify biomarker panels in serum 2D-DIGE data for the detection and staging of prostate cancer. – Journal of Proteome Research 10(3): 1361-1373.

Ferlay, J., Parkin, D., Steliarova-Foucher, E. (2010): Estimates of cancer incidence and mortality in Europe in 2008. – European Journal of Cancer 46(4): 765-781.

Gjertson, C.K., Albertsen, P.C. (2011): Use and assessment of PSA in prostate cancer. – Medical Clinics 95(1): 191-200.

Guo, Z., Wen, J., Kan, Q., Huang, S., Liu, X., Sun, N., Li, Z. (2013): Lack of association between vitamin D receptor gene FokI and BsmI polymorphisms and prostate cancer risk: an updated meta-analysis involving 21,756 subjects. – Tumor Biology 34(5): 3189-3200.

Hilal, L., Shahait, M., Mukherji, D., Charafeddine, M., Farhat, Z., Temraz, S., Khauli, R., Shamseddine, A. (2015). – Prostate cancer in the Arab world: A view from the inside. – Clinical Genitourinary Cancer 13(6): 505-511.

Hsing, A.W., Chokkalingam, A.P. (2006): Prostate cancer epidemiology. – Frontiers in Bioscience 11(5): 1388-1413.

Iqbal, M.U.N., Khan, T.A. (2017): Association between vitamin D receptor (Cdx2, Fok1, Bsm1, Apa1, Bgl1, Taq1, and Poly (A)) gene polymorphism and breast cancer: a systematic review and meta-analysis. – Tumor Biology 39(10): 1-9.

Jain, S., Saxena, S., Kumar, A. (2014): Epidemiology of prostate cancer in India. – Meta Gene 2: 596-605.

John, E.M., Schwartz, G.G., Koo, J., Van Den Berg, D., Ingles, S.A. (2005): Sun exposure, vitamin D receptor gene polymorphisms, and risk of advanced prostate cancer. – Cancer Research 65(12): 5470-5479.

Juran, B.D., Lazaridis, K.N. (2011): Genomics in the post-GWAS era. – In Seminars in Liver Disease 31(2): 215-222.

Khan, H. (2011): Determinants of Prostate Cancer. – University of Birmingham 219p.

Khan, T.A., Maqbool, S.A. (2015): Vitamin D receptor Cdx-2 polymorphism and premenopausal breast cancer risk in southern Pakistani patients. – PLOS One 10(3): 12p.

Kitagawa, Y., Mizokami, A., Namiki, M. (2013): Trends of clinical symptoms and prognosis of middle-aged prostate cancer patients after instigation of prostate specific antigen-based population screening. – Prostate International 1(2): 65-68.

Köstner, K., Denzer, N., Mueller, C.S., Klein, R., Tilgen, W., Reichrath, J. (2009): The relevance of vitamin D receptor (VDR) gene polymorphisms for cancer: a review of the literature. – Anticancer Research 29(9): 3511-3536.

Kronenwetter, C., Weidner, G., Pettengill, E., Marlin, R., Crutchfield, L., McCormac, P., Raisin, C.J., Ornish, D. (2005): A qualitative analysis of interviews of men with early stage prostate cancer: the Prostate Cancer Lifestyle Trial. – Cancer Nursing 28(2): 99-107.

Leissner, K.H., Tisell, L.E. (1979): The Weight of the Human Prostate. – Scandinavian Journal of Urology and Nephrology 13(2): 137-142.

Llewellyn, D.J., Lang, I.A., Langa, K.M., Muniz-Terrera, G., Phillips, C.L., Cherubini, A., Ferrucci, L., Melzer, D. (2010): Vitamin D and risk of cognitive decline in elderly persons. – Archives of Internal Medicine 170(13): 1135-1141.

Medeiros, R., Morais, A., Vasconcelos, A., Costa, S., Pinto, D., Oliveira, J., Lopes, C. (2002): The role of vitamin D receptor gene polymorphisms in the susceptibility to prostate cancer of a southern European population. – Journal of Human Genetics 47(8): 413-418.

Mohammadi, Z., Fayyazbakhsh, F., Ebrahimi, M., Amoli, M.M., Khashayar, P., Dini, M., Zadeh, R.N., Keshtkar, A., Barikani, H.R (2014): Association between vitamin D receptor gene polymorphisms (Fok1 and Bsm1) and osteoporosis: a systematic review. – Journal of Diabetes & Metabolic Disorders 13(1): 9p.

Mukhtar, M., Batool, A., Wajid, A., Qayyum, I. (2017): Vitamin D receptor gene polymorphisms influence T1D susceptibility among Pakistanis. – International Journal of Genomics 7p.

Mukhtar, M., Sheikh, N., Suqaina, S.K., Batool, A., Fatima, N., Mehmood, R., Nazir, S. (2019): Vitamin D Receptor Gene Polymorphism: An Important Predictor of Arthritis Development. – BioMed Research International 8p.

Murtaza, M., Salih, A., Illzam, E., Sharifa, A. (2016): Prostate Cancer: Pathophysiology, Diagnosis, and Prognosis. – IOSR Journal of Dental and Medical Sciences 15: 122-126.

Mutti, D.O., Cooper, M.E., Dragan, E., Jones-Jordan, L.A., Bailey, M.D., Marazita, M.L., Murray, J.C., Zadnik, K., CLEERE Study Group (2011): Vitamin D receptor (VDR) and group-specific component (GC, vitamin D–binding protein) polymorphisms in myopia. – Investigative Ophthalmology & Visual Science 52(6): 3818-3824.

Pearson, J.D., Luderer, A.A., Metter, E.J., Partin, A.W., Chan, D.W., Fozard, J.L., Carter, H.B. (1996): Longitudinal analysis of serial measurements of free and total PSA among men with and without prostatic cancer. – Urology 48(6): 4-9.

Petros, A.M., Swann, S.L., Song, D., Swinger, K., Park, C., Zhang, H., Wendt, M.D., Kunzer, A.R., Souers, A.J., Sun, C. (2014): Fragment-based discovery of potent inhibitors of the anti-apoptotic MCL-1 protein. Bioorganic & Medicinal Chemistry Letters 24(6): 1484-1488.

Pienta, K.J., Esper, P.S. (1993): Risk factors for prostate cancer. – Annals of Internal Medicine 118(10): 793-803.

Powe, C.E., Evans, M.K., Wenger, J., Zonderman, A.B., Berg, A.H., Nalls, M., Tamez, H., Zhang, D., Bhan, I., Karumanchi, S.A., Powe, N.R. (2013): Vitamin D–binding protein and vitamin D status of black Americans and white Americans. – New England Journal of Medicine 369(21): 1991-2000.

Schlomm, T., Erbersdobler, A., Mirlacher, M., Sauter, G. (2007): Molecular staging of prostate cancer in the year 2007. – World Journal of Urology 25(1): 19-30.

SCl'lWARTZ, G.G., Hulka, S. (1990): Is vitamin D deficiency a risk factor for prostate cancer? (Hypothesis). – Anticancer Research 10: 807-1312.

Sriprasad, S., Feneley, M.R., Thompson, P.M. (2009): History of prostate cancer treatment. – Surgical Oncology 18(3): 185-191.

Uitterlinden, A.G., Fang, Y., van Meurs, J.B., Pols, H.A., van Leeuwen, J.P. (2004): Genetics and biology of vitamin D receptor polymorphisms. – Gene 338(2): 143-156.

Vanessa, O., Asani, F.F., Jeffery, T.J., Saccone, D.S., Bornman, L. (2013): Vitamin D receptor gene expression and function in a South African population: Ethnicity, vitamin D and FokI. – PLOS One 8(6): 10p.

Wang, X., Gotoh, O. (2010): Inference of cancer-specific gene regulatory networks using soft computing rules. – Gene Regulation and Systems Biology 4: 19-34.




How to Cite

MAZHAR, M. W., TAHIR, H., MAHMOOD, J., SHAHZADI, M. B., & SAIF, S. (2021). APAI POLYMORPHISM FREQUENCIES AND PROSTATE CANCER PATIENTS IN PUNJAB, PAKISTAN. Quantum Journal of Medical and Health Sciences, 1(4), 1–13. Retrieved from https://qjmhs.com/index.php/qjmhs/article/view/11