Investigation of HER2 I655V and PHB 3′UTR C > T polymorphisms in azoospermic infertile males
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 ca...
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Veröffentlicht in: | Egyptian Journal of Medical Human Genetics 2023-12, Vol.24 (1), p.43-6, Article 43 |
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Sprache: | eng |
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Zusammenfassung: | 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. |
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ISSN: | 2090-2441 1110-8630 2090-2441 |
DOI: | 10.1186/s43042-023-00422-0 |