Copy number variants within AZF region of Y chromosome and their association with idiopathic male infertility in Serbian population
| Autor: | Lana Radenkovic, Nemanja Vučić, Branko Budimirović, Ivan Vuković, Suzana Matijašević, Mirka Djordjević, Dusanka Savic-Pavicevic, Goran Brajušković, Nevena Kotarac |
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| Rok vydání: | 2021 |
| Předmět: |
Male
DNA Copy Number Variations Urology Population Locus (genetics) Biology Y chromosome Male infertility 03 medical and health sciences 0302 clinical medicine Endocrinology Gene duplication medicine Humans Copy-number variation education Infertility Male 030304 developmental biology Azoospermia Genetics 0303 health sciences education.field_of_study Azoospermia factor 030219 obstetrics & reproductive medicine Chromosomes Human Y Sertoli Cell-Only Syndrome General Medicine Oligospermia medicine.disease Exact test Chromosome Deletion |
| Zdroj: | AndrologiaREFERENCES. 54(1) |
| ISSN: | 1439-0272 |
| Popis: | Results of numerous studies gave contradictory conclusions when analysing associations between copy number variants (CNVs) within the azoospermia factor (AZF) locus of the Y chromosome and idiopathic male infertility. The aim of this study was to identify the presence and possible association of CNVs in the AZF region of Y chromosome with idiopathic male infertility in the Serbian population. Using the multiplex ligation-dependent probe amplification technique, we were able to detect CNVs in 24 of 105 (22.86%) infertile men and in 11 of 112 (9.82%) fertile controls. The results of Fisher's exact test showed a statistically significant difference between cases and controls after merging g(reen)-r(ed)/g(reen)-r(ed) and b(lue)2/b(lue)3 partial deletions identified in the AZFc region (p = 0.024). At the same time, we observed a trend towards statistical significance for a deletion among gr/gr amplicons (p = 0.053). In addition to these, we identified a novel complex CNV involving inversion of r2/r3 amplicons, followed by b2/b3 duplication and b3/b4 deletion, respectively. Additional analyses on a larger study group would be necessary to draw meaningful conclusions about associations among CNVs that presented with higher frequency in the infertile men than the fertile controls. |
| Databáze: | OpenAIRE |
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