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Investigation of HER2 I655V and PHB 3'UTR C T polymorphisms in azoospermic infertile males

The Egyptian journal of medical human genetics, 2023-12, Vol.24 (1) [Peer Reviewed Journal]

COPYRIGHT 2023 Springer ;ISSN: 1110-8630 ;DOI: 10.1186/s43042-023-00422-0

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  • Title:
    Investigation of HER2 I655V and PHB 3'UTR C T polymorphisms in azoospermic infertile males
  • Author: Yildiz, Irem ; Karakus, Nevin ; Erdemir, Fikret
  • Subjects: Analysis ; Genes ; Genetic aspects ; Investigations ; Medical research ; Medicine, Experimental ; Tyrosine
  • Is Part Of: The Egyptian journal of medical human genetics, 2023-12, Vol.24 (1)
  • Description: Background Male infertility is a complex, multifactorial pathological condition with a highly heterogeneous phenotypic variation, from complete absence of spermatozoa in the testicles (azoospermia) to marked changes in sperm quality. The Erb-B2 receptor tyrosine kinase 2 gene (ERBB2, also often called HER2) was hypothesized to be involved in spermatogenesis and Leydig cell steroidogenesis in males. Prohibitin (PHB) has been shown to regulate sperm motility in infertile men by changing mitochondrial membrane potential and increasing reactive oxygen species levels. In this study, we aimed to investigate the HER2 I655V and PHB 3'UTR C > T polymorphisms in azoospermic infertile males. Methods One hundred and thirty-three infertile males with idiopathic azoospermia and 100 healthy male controls were included in this study. Patient and control DNAs, which were extracted from peripheral blood, were analyzed using polymerase chain reaction and restriction fragment length polymorphism technics. For statistical evaluation, Chi-square and variance analyses were carried out using IBM SPSS (version 20.0) and Openepi (version 3.01) software programs. Results We did not observe any differences between azoospermic infertile males and healthy male controls in terms of allele and genotype distributions of both the HER2 I655V and PHB 3'UTR C > T polymorphisms (p > 0.05). Moreover, composite genotype analyses did not show any differences between two groups (p > 0.05). Conclusions No association was found between HER2 I655V and PHB 3'UTR C > T polymorphisms and azoospermic male infertility. The study can be expanded further by increasing the number of samples and studying in various populations.
  • Publisher: Springer
  • Language: English
  • Identifier: ISSN: 1110-8630
    DOI: 10.1186/s43042-023-00422-0
  • Source: GFMER Free Medical Journals
    DOAJ Directory of Open Access Journals
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