Analysis of AR, PSA (KLK) and ER-β genetic variants and Benign Prostate Hyperplasia (BPH) pathogenesis in Indian population
Benign Prostate Hyperplasia (BPH) pathogenesis exhibitsinter-individual variation in the genome as polymorphisms in the steroid hormone genes AR, PSA (KLK) and ER-β profound effects in altering BPH disease progression rate. Single nucleotide polymorphisms (SNPs) designated 1754 A/G exon-1 in AR, Pro...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2016-01-01
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| Series: | Biomedical Research Journal |
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| Online Access: | http://www.brjnmims.org/article.asp?issn=2349-3666;year=2016;volume=3;issue=1;spage=88;epage=103;aulast=Prajapati;type=0 |
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| author | Akhilesh Prajapati Gaurav Chauhan Sharad Gupta Parth Pandya Sukhbir Kaur Sarita Gupta |
| author_facet | Akhilesh Prajapati Gaurav Chauhan Sharad Gupta Parth Pandya Sukhbir Kaur Sarita Gupta |
| author_sort | Akhilesh Prajapati |
| collection | DOAJ |
| description | Benign Prostate Hyperplasia (BPH) pathogenesis exhibitsinter-individual variation in the genome as polymorphisms in the steroid hormone genes AR, PSA (KLK) and ER-β 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) (p 0.0002)] 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 and 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. |
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| institution | Directory Open Access Journal |
| issn | 2349-3666 2349-3674 |
| language | English |
| last_indexed | 2024-12-19T06:49:40Z |
| publishDate | 2016-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
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| spelling | doaj.art-3d119b0523d847d6b46fd8819c202f372022-12-21T20:31:48ZengWolters Kluwer Medknow PublicationsBiomedical Research Journal2349-36662349-36742016-01-01318810310.4103/2349-3666.240607Analysis of AR, PSA (KLK) and ER-β genetic variants and Benign Prostate Hyperplasia (BPH) pathogenesis in Indian populationAkhilesh PrajapatiGaurav ChauhanSharad GuptaParth PandyaSukhbir KaurSarita GuptaBenign Prostate Hyperplasia (BPH) pathogenesis exhibitsinter-individual variation in the genome as polymorphisms in the steroid hormone genes AR, PSA (KLK) and ER-β 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) (p 0.0002)] 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 and 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.http://www.brjnmims.org/article.asp?issn=2349-3666;year=2016;volume=3;issue=1;spage=88;epage=103;aulast=Prajapati;type=0benign prostate hyperplasiasingle nucleotide polymorphismsandrogen receptorprostate specific antigenestrogen receptor-βgenotype–phenotype correlation |
| spellingShingle | Akhilesh Prajapati Gaurav Chauhan Sharad Gupta Parth Pandya Sukhbir Kaur Sarita Gupta Analysis of AR, PSA (KLK) and ER-β genetic variants and Benign Prostate Hyperplasia (BPH) pathogenesis in Indian population Biomedical Research Journal benign prostate hyperplasia single nucleotide polymorphisms androgen receptor prostate specific antigen estrogen receptor-β genotype–phenotype correlation |
| title | Analysis of AR, PSA (KLK) and ER-β genetic variants and Benign Prostate Hyperplasia (BPH) pathogenesis in Indian population |
| title_full | Analysis of AR, PSA (KLK) and ER-β genetic variants and Benign Prostate Hyperplasia (BPH) pathogenesis in Indian population |
| title_fullStr | Analysis of AR, PSA (KLK) and ER-β genetic variants and Benign Prostate Hyperplasia (BPH) pathogenesis in Indian population |
| title_full_unstemmed | Analysis of AR, PSA (KLK) and ER-β genetic variants and Benign Prostate Hyperplasia (BPH) pathogenesis in Indian population |
| title_short | Analysis of AR, PSA (KLK) and ER-β genetic variants and Benign Prostate Hyperplasia (BPH) pathogenesis in Indian population |
| title_sort | analysis of ar psa klk and er β genetic variants and benign prostate hyperplasia bph pathogenesis in indian population |
| topic | benign prostate hyperplasia single nucleotide polymorphisms androgen receptor prostate specific antigen estrogen receptor-β genotype–phenotype correlation |
| url | http://www.brjnmims.org/article.asp?issn=2349-3666;year=2016;volume=3;issue=1;spage=88;epage=103;aulast=Prajapati;type=0 |
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