Hypospadias Risk and Polymorphism in SRD5A2 and CYP17 Genes: Case-Control Study Among Indian Children
| Autor: | Kapil Vashisht, Minu Bajpai, Kallur Nava Saraswathy, Pradeep Kumar Ghosh, Ratika Samtani |
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| Rok vydání: | 2011 |
| Předmět: |
Male
medicine.medical_specialty Urology India Physiology 3-Oxo-5-alpha-Steroid 4-Dehydrogenase Risk Factors Internal medicine Genotype medicine Humans Sex organ Prospective Studies Family history Child Prospective cohort study Genotyping Hypospadias Polymorphism Genetic business.industry Case-control study Membrane Proteins Steroid 17-alpha-Hydroxylase medicine.disease Endocrinology Case-Control Studies Child Preschool SRD5A2 business |
| Zdroj: | Journal of Urology. 185:2334-2339 |
| ISSN: | 1527-3792 0022-5347 |
| DOI: | 10.1016/j.juro.2011.02.043 |
| Popis: | Hypospadias is a common congenital error of genital development, the frequency of which is increasing. As androgens have a significant role in the development of the male urethra, we sought to investigate the association between 2 functional polymorphisms, CYP17-A1/A2 and SRD5A2-V89L, which are involved in the biosynthesis of testosterone and dihydrotestosterone, respectively, in relation to hypospadias.We examined DNA samples of 80 cases and 100 controls for SRD5A2-V89L and CYP17-A1/A2 gene polymorphisms. Information pertaining to family history, preoperative position of the urethral meatus and parental occupations along with maternal reproductive profile were collected for cases and controls.Genotyping of 80 cases and 100 controls revealed a significant association between V89L polymorphism and hypospadias (OR 2.4, 95% CI 1.2-4.6, p0.05). When analyzing the risk of hypospadias based on grade, genotypic distribution of SRD5A2-LL genotype differed significantly between severe forms and controls, with an odds ratio of 3.6 (95% CI 1.2-10.0, p = 0.02). Of affected children 71.25% had parents from a rural background, with agriculture as the primary occupation. A statistically significant association was observed for the LL genotype (OR 4.6, 95% CI 1.7-12.29, p0.05) between children with parents having an agricultural background (likely exposed to pesticides) and controls with no such exposure. CYP17-A1/A2 genotypes did not show any significant results.V89L polymorphism of the SRD5A2 gene is a strong determinant of hypospadias risk among children of Indian origin. However, our results suggest that the presence of leucine allele, especially among agriculturalists, may increase the propensity of having a child with hypospadias. |
| Databáze: | OpenAIRE |
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