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Association of MSY haplotype background with nonobstructive azoospermia is AZF‐dependent: A case‐control study

Atieh Seyedin,M. Kazeroun,Atefeh Namipashaki,Samaneh Qobadi-Nasr,M. Zamanian,N. Ansari-Pour

Published 2021 in Andrologia

ABSTRACT

Identifying causal genes of spermatogenic failure on the male‐specific region of Y chromosome (MSY) has been a challenging process. Due to the nonrecombining nature of MSY, haplotype‐based approaches have recently been shown to be promising in identifying associated MSY haplogroups. We conducted an MSY analysis of nonobstructive azoospermia (NOA) patients in a case–control setting (N = 278 and 105 respectively) to identify modal haplogroups strongly associated with NOA. Patients with AZF deletions (AZF+) and no AZF deletions (AZF‐) were compared with the control group. Given the larger sample set of AZF‐ NOA patients, we further investigated the association based on histopathological severity, namely Sertoli cell‐only syndrome and maturation arrest subtypes. We observed no significant enrichment of MSY haplogroups in AZF‐ azoospermic patients (or its subtypes). However, we observed a strongly significant association between haplogroup J2a* and AZF+ patients (FDR‐corrected p = .0056; OR = 7.02, 95%CI 1.89 to 39.20), a haplogroup which also showed significant enrichment for AZFa/b deletions (p = 4x10‐4). We conclude that unlike AZF+ patients, AZF‐ NOA are less likely to have an MSY causative factor with large effect size, thus indicating that the aetiology of AZF‐ NOA, and to some extent AZFc NOA, is more likely to be based on non‐MSY factors.

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