AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men

Imken, Laila; Houate, Brahim El; Chafik, Abdelaziz; Nahili, Halima; Boulouiz, Redouane; Abidi, Omar; Chadli, Elbakkay; Louanjli, Noureddine; Elfath, Abdelouhab; Hassar, Mohammed; McElreavey, Ken; Barakat, Abdelhamid; Rafiey, Hassan

doi:10.1111/j.1745-7262.2007.00290.x

Cited by 44 publications

(44 citation statements)

References 18 publications

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“…In the non-Spanish cohort, consistent with the high proportion of North African patients (53.2%) included, AZF deletions were mostly found on hgr E, which is seemingly more prone to Y microdeletions. 28,29 Moreover, the deletion frequency reported in idiopathic AZ and SOZ men (9.09 and 5.5%) in Moroccan population 28 is consistent with our findings in non-Spanish idiopathic AZ and SOZ men (10.7% and 6.9%, respectively). The prevalence of Y microdeletions in our study population (3.3%) is in line with the overall data presented in the literature (3.5%, according to a recent meta-analysis 30 ).…”

Section: -124supporting

confidence: 90%

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Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

et al. 2013

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AZF microdeletion screening is routinely performed in the diagnostic work-up for male infertility; however, some issues remain debated. In this study, we provide insights into the sperm concentration cutoff value for routine testing, the predictive value of AZFc deletion for testicular sperm retrieval and the Y-background contribution to the interpopulation variability of deletion frequencies. In the Spanish population, partial AZFc rearrangements have been poorly explored and no data exist on partial duplications. In our study, 27/806 (3.3%) patients carried complete AZF deletions. All were azoo/cryptozoospermic, except for one whose sperm concentration was 2 Â 10 6 /ml. In AZFc-deleted men, we observed a lower sperm recovery rate upon conventional TESE (9.1%) compared with the literature (60-80% with microTESE). Haplogroup E was the most represented among non-Spanish and hgr P among Spanish AZF deletion carriers. The analysis of AZFc partial rearrangements included 330 idiopathic infertile patients and 385 controls of Spanish origin. Gr/gr deletion, but not AZFc partial duplications, was significantly associated with spermatogenic impairment. Our data integrated with the literature suggest that: (1) routine AZF microdeletion testing could eventually include only men with r2 Â 10 6 /ml; (2) classical TESE is associated with low sperm recovery rate in azoospermic AZFc-deleted men, and therefore microTESE should be preferred; (3) Y background could partially explain the differences in deletion frequencies among populations. Finally, our data on gr/gr deletion further support the inclusion of this genetic test in the work-up of infertile men, whereas partial AZFc duplications do not represent a risk for spermatogenic failure in the Spanish population.

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Section: -124supporting

confidence: 90%

“…The remaining three b2/b3 deletion carriers belonged to hrgs C,F,G,H,I, which is a frequent Y hgr in Moroccan population for which b2/b3 deletion has been recently reported in association with male infertility. 28,29 The significant association observed indicates a Y background-dependent deleterious effect of b2/b3 on spermatogenesis.…”

Section: -124mentioning

confidence: 89%

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

et al. 2013

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“…36 However, other studies have reported very low frequencies of these subdeletions and found no association with infertility and/or spermatogenesis. 14,16,19,27,34,37 Either genetic background of the population studied or the type of infertility might explain the reasons in the frequencies of the different subdeletions.…”

Section: Discussionmentioning

confidence: 99%

Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients

et al. 2010

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Microdeletions in azoospermia factor (AZF) region on distal Yq are associated with male infertility and spermatogenic failure due to intra-chromosomal homologous recombination between large nearly identical repeat amplicons and are found in B10% of azoospermic and severe oligozoospermic cases. Although AZFc is deleted in azoospermia or oligozoospermia, no definitive conclusion has been drawn for the role of partial AZFc deletions to spermatogenic failure. Therefore, this study is planned to investigate the role of gr/gr subdeletions in individuals with spermatogenic failure and to find its relationship with Y chromosome haplogroups (HGs) in infertile men from Indian population. It is a case-control study involving 236 azoospermic, 182 oligospermic and 240 healthy normozoospermic men. We found 18 gr/gr, 11 b1/b3 and 2 b2/b3 subdeletions in azoospermic patients and 12 gr/gr, 5 b1/b3 and 4 b2/b3 subdeletions in oligospermic patients. However, we also found seven gr/gr deletions in normozoospermic men. Seven patients each with spermatogenic arrest and oligospermia who carry gr/gr subdeletions have deleted DAZ3/DAZ4 genes. A total of 11 patients with sertoli cell-only syndrome (SCOS) and 5 oligospermic patients with gr/gr subdeletions also have DAZ1/DAZ2 genes deleted indicating that deletions of DAZ genes contributed differently to damage to spermatogenic process. L1 HG is found in patients showing b1/b3 subdeletions, whereas HG H1a2 and H1b were found in normozoospermic individuals with gr/gr subdeletions. Our results provide evidence of association between the occurrence of subdeletions and male infertility as well as the severity of the spermatogenic failure.

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“…The OR for gr/gr deletions is 2.8 and 5.7 for b1/b3 deletion in infertile men. This OR is higher as compared to those reported in meta-analyses and large p<0.05 is considered as statistically significant Pregnancy rate (%) 59 (25.7) 3 (30) n are the number of men assessed in each group population-based studies [20,21,25,26] suggesting that both gr/gr and b1/b3 deletions are strong predisposing factors for male infertility in Indian population. Although gr/gr and b1/b3 deletions seem to be a risk factor for male infertility, there are normozoospermic fertile men with AZFc subdeletions, moreover b2/b3 deletions which remove almost identical amount of genetic material (and the same genes) do not predispose an individual to male infertility.…”

Section: Discussionmentioning

confidence: 78%

“…It has been observed that the Europeans and the Han Chinese have a strong association of gr/gr deletions with male infertility [11,22,27]; the American and African men with gr/gr deletions do not seem to be susceptible to azoospermia or oligozoospermia [20,21,[28][29][30]. In the Asian population, the gr/gr deletions are not associated with male infertility in the Malaysian and Japanese men; a significant association has been observed in the Korean and Chinese men [20,21,27,[31][32][33].…”

Section: Introductionmentioning

confidence: 99%

Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions

Sen

Ambulkar

Hinduja

et al. 2015

J Assist Reprod Genet

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Purpose The purpose of this study was to determine the association of AZFc subdeletions (gr/gr, b1/b3 and b2/b3) and deletion of DAZ and CDY1 gene copies with male infertility Methods Three hundred twelve controls, 172 azoospermic and 343 oligozoospermic subjects were subjected to AZFc subdeletion typing by STS PCR. Deletion of DAZ and CDY1 gene copies was done using sequence family variant analysis. Sperm concentration and motility were compared between men with and without AZFc subdeletions. Effect of the AZFc subdeletions on ICSI outcome was evaluated. Results Amongst the three AZFc subdeletions, the frequency of gr/gr was higher in oligozoospermic (10.5 %) and azoospermic (11.6 %) men as compared to controls (5.1 %). In men with AZFc subdeltions, loss of two DAZ and one CDY1 gene copy made them highly susceptible to azoospermia and severe oligozoospermia with OR of 29.7 and 26, respectively. These subdeletions had no effect on ICSI outcome, albeit there were an increased number of poor quality embryos in AZFc subdeleted group. Conclusion AZFc subdeletions are a major risk factor for male infertility in the Indian population. In the subjects with AZFc subdeletions, the deletion of DAZ and CDY1 gene copies increases its susceptibility to azoospermia or severe oligozoospermia. Since these deletions can be vertically transmitted to the future male offspring by ICSI, it will be essential to counsel the couples for the transmission of the genetic defect in the male offspring born after assisted reproduction and the risk of perpetuating infertility in future generation.

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AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men

Abstract: Our results suggest that the frequency of Y chromosome AZF microdeletions is elevated in individuals with severe spermatogenic failure and that gr/gr deletions are not associated with spermatogenic failure.

Cited by 44 publications

References 18 publications

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients

Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions

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