Please use this identifier to cite or link to this item: https://biore.bio.bg.ac.rs/handle/123456789/5226
Title: Copy number variants within AZF region of Y chromosome and their association with idiopathic male infertility in Serbian population
Authors: Vučić, Nemanja 
Kotarac, Nevena 
Matijašević, Suzana 
Radenković, Lana 
Vuković, Ivan
Budimirović, Branko
Djordjević, Mirka
Savić-Pavićević, Dušanka 
Brajušković, Goran 
Issue Date: 29-Oct-2021
Rank: M23
Publisher: John Wiley & Sons, Inc.
Citation: Vučić N, Kotarac N, Matijašević S, Radenković L, Vuković I, Budimirović B, Djordjević M, Savić- Pavićević D, Brajušković G. Copy number variants within AZF region of Y chromosome and their association with idiopathic male infertility in Serbian population. Andrologia. 2022 Feb;54(1):e14297. doi: 10.1111/and.14297. M23 IF 2021 =2.532 (Oblast: Andrology 6/8)
Journal: Andrologia
Abstract: 
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.
URI: https://biore.bio.bg.ac.rs/handle/123456789/5226
ISSN: 1439-0272
DOI: 10.1111/and.14297
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