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Biomedical Research Journal

Volume 3, Issue 1, April 2016, Pages 88-103

Analysis of AR, PSA (KLK) and ER-β Genetic Variants and Benign Prostate Hyperplasia (BPH) Pathogenesis in Indian Population

Akhilesh Prajapati1, Gaurav Chauhan1, Sharad Gupta2, Parth Pandya1, Sukhbir Kaur1 and Sarita Gupta1*

1 Department of Biochemistry, Faculty of Science, The Maharaja Sayajirao University of Baroda, Vadodara –390005, India.

2 Gupta Pathological Laboratory, Vadodara - 390001, India.

Benign Prostate Hyperplasia (BPH) pathogenesis exhibitsinter-individual variation in the genome as polymorphisms in the steroid hormone genes AR, PSA (KLK) and ERβ with profound effects in altering BPH disease progression rate. Single nucleotide polymorphisms (SNPs) designated 1754 A/G exon-1 in AR, Promotor-158 A/G in PSA(KLK) and 1730 A/G 3′UTR in Exon-8 in ER-β have been associated with BPH pathogenesis. In the current study, AR-1754 A/G exon-1, PSA-ARE1 Promotor-158 A/G and 1730 A/G 3′UTR in Exon-8 in ER-β were analysed in Indian population.The polymorphisms in BPH patients and healthy individuals were evaluated by PCR, RFLP–PCR and genotype–phenotype correlation. In the study AR and ER-β SNPs demonstrated significant association [55.7% (OR 3.0 (95% CI 1.67–5.46) (p0.0002)] and [52.6 % (OR 6.5, 95% CI 3.27–12.74) (p 0.0001)] with BPH pathogenesis in patients as compared to control. With both the polymorphisms indicating a trend towards an association of the G allele with an increased risk of BPH pathogenesis. The A/G genotype frequency of PSA was 54 % in patients was not associated with BPH pathogenesis. Further genotype–phenotype correlation study has provided evidence that gene–gene interactions play an important role in the etiology of BPH.Although susceptibility to pathogenesis cannot be dependent on a single or small number of genetic variants, it is noteworthy that AR, PSA and ER-β variants have been correlated globally with BPH pathogenesis. Hence, the higher frequency of AR and ER-β variants in the Indian population may be critical in BPH pathogenesis.

Key words:

Benign prostate hyperplasia, Single nucleotide polymorphisms, Androgen receptor, Prostate specific antigen, Estrogen receptor-β, Genotype–phenotype correlation.

*Corresponding Author:

Sarita Gupta, Department of Biochemistry, Faculty of Science, The Maharaja Sayajirao University of Baroda, Vadodara – 390005, India. E-mail: sglmescrl@gmail.com; saritagupta9@gmail.com

Cite this article as:

Prajapati A, Chauhan G, Gupta S, Pandya P, Kaur S, Gupta S. Analysis of AR, PSA (KLK) and ER-β Genetic Variants and Benign Prostate Hyperplasia (BPH) Pathogenesis in Indian Population. Biomed Res J 2016;3(1):88-103.

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