Y-chromosome haplogroup architecture confers susceptibility to azoospermia factor c microrearrangements: a retrospective study.

Kuzmanovska, Maja and Noveski, Predrag and Terzic, Marija and Plaseski, Toso and Kubelka-Sabit, Katerina and Filipovski, Vanja and Lazarevski, Slobodan and Sukarova Stefanovska, Emilija and Plaseska-Karanfilska, Dijana (2019) Y-chromosome haplogroup architecture confers susceptibility to azoospermia factor c microrearrangements: a retrospective study. Croatian medical journal, 60 (3). pp. 273-283. ISSN 1332-8166

Text 2019 Y chromosome haplogroup architecture confers susceptibility to azoospermia factor c microrearrangements a retrospective study.pdf - Published Version Download (806kB)

Abstract

AIM

To assess the association between azoospermia factor c microrearrangements and semen quality, and between Y-chromosome background with distinct azoospermia factor c microrearrangements and semen quality impairment.

METHODS

This retrospective study, carried out in the Research Center for Genetic Engineering and Biotechnology "Georgi D. Efremov," involved 486 men from different ethnic backgrounds referred for couple infertility from 2002-2017: 338 were azoospermic/oligozoospermic and 148 were normozoospermic. The azoospermia factor c microrearrangements were analyzed with sequence tagged site and sequence family variant markers, quantitative fluorescent polymerase chain reaction, and multiplex ligation probe amplification analysis. The Y-haplogroups of all participants were determined with direct single nucleotide polymorphism typing and indirect prediction with short tandem repeat markers.

RESULTS

Our participants had two types of microdeletions: gr/gr and b2/b3; three microduplications: b2/b4, gr/gr, and b2/b3; and one complex rearrangement gr/gr deletion + b2/b4 duplication. Impaired semen quality was not associated with microrearrangements, but b2/b4 and gr/gr duplications were significantly associated with haplogroup R1a (P<0.001 and P=0.003, respectively) and b2/b3 deletions with haplogroup E (P=0.005). There were significantly more b2/b4 duplication carriers in Albanians than in Macedonians with haplogroup R1a (P=0.031).

CONCLUSION

Even though azoospermia factor c partial deletions/duplications and Y-haplogroups were not associated with impaired semen quality, specific deletions/duplications were significantly associated with distinct haplogroups, implying that the Y chromosome background may confer susceptibility to azoospermia factor c microrearrangements.

Item Type:	Article
Impact Factor Value:	1.351
Subjects:	Medical and Health Sciences > Basic medicine Medical and Health Sciences > Clinical medicine
Divisions:	Faculty of Medical Science
Depositing User:	Katerina Kubelka-Sabit
Date Deposited:	13 Jan 2023 11:11
Last Modified:	13 Jan 2023 11:11
URI:	https://eprints.ugd.edu.mk/id/eprint/30767

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