NR5A1 mutations are not associated with male infertility in Indian men
| Autor: | Kumarasamy Thangaraj, Sheikh Nizamuddin, J. R. Devi, G. Manisha, M. Deenadayal, Digumarthi V. S. Sudhakar, Baidyanath Chakravarthy, Lalji Singh, Nalini J. Gupta |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Steroidogenic factor 1 Adult Male endocrine system medicine.medical_specialty Urology Gonadal dysgenesis Biology Steroidogenic Factor 1 Polymorphism Single Nucleotide Male infertility 03 medical and health sciences Exon 0302 clinical medicine Endocrinology Gene Frequency Internal medicine medicine Adrenal insufficiency Humans Genetic Predisposition to Disease Gene Alleles Genetic Association Studies Infertility Male 030219 obstetrics & reproductive medicine Sexual differentiation Adrenal cortex General Medicine Exons medicine.disease 030104 developmental biology medicine.anatomical_structure Mutation |
| Zdroj: | Andrologia. 50(3) |
| ISSN: | 1439-0272 |
| Popis: | NR5A1 or steroidogenic factor 1 (SF1) is an autosomal gene, which encodes a protein that is a member of nuclear receptor family. NR5A1 regulates the transcription of numerous genes that are expressed in hypothalamic-pituitary-gonadal axis and adrenal cortex which in turn, coordinate the gonadal development, steroidogenesis and sex differentiation. Several mutations in NR5A1 have been reported to cause gonadal dysgenesis with adrenal insufficiency in individuals with 46,XY karyotype. However, studies in the past few years have shown that NR5A1 mutations can also contribute to primary ovarian insufficiency and impaired spermatogenesis. As there is no genetic study on NR5A1 in Indian infertile men, we have sequenced the entire coding region (exons 2-7) of NR5A1 in 502 infertile men of which, 414 were non-obstructive azoospermic and 88 severe oligozoospermic, along with 427 ethnically matched fertile controls. Interestingly, none of the mutations reported to be associated with male infertility were found in our study, except one polymorphism, rs1110061. However, it was not significantly different between infertile and fertile groups (p = .76). In addition, we have identified six intronic variants; but none of them was significantly associated with male infertility. |
| Databáze: | OpenAIRE |
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