Partial Microdeletions in the Y-Chromosome AZFc Region Are Not a Significant Risk Factor for Spermatogenic Impairment in Tunisian Infertile Men

Ghorbel, Myriam; Gargouri, Siwar Baklouti; Zribi, Nacira; Abdallah, Ferjani Ben; Cherif, Mariem; Keskes, Rim; Chakroun, N.; Sellami, Afifa; McElreavey, Ken; Fakhfakh, Faïza; Ammar-Keskes, Leila

doi:10.1089/gtmb.2012.0024

Cited by 14 publications

(9 citation statements)

References 37 publications

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“…Using the Y chromosome microdeletion in infertile Tunisian men 6 STSs markers, Hadj-Kacem et al [19] have reported an overall of 16% of Y chromosome microdeletions in 163 infertile Tunisian men with normal karyotype subdivided into 3 groups: azoospermic, oligozoospermic (less than 20 × 10 6 spz/mL), and normozoospermic men (more than 20 × 10 6 spz/mL). With the same STSs markers, two studies performed by Ghorbel et al have detected a lower frequency in azoospermic and oligozoospermic groups: 1.3% [6] and 2.7% [20], but chromosomal abnormalities in these reports were included in the first study and unspecified in the latter one ( [22]. In the present study, 2/74 azoospermic men (2.7%) showed Y chromosome microdeletions.…”

Section: Resultssupporting

confidence: 48%

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Prevalence of Y chromosome microdeletions in infertile Tunisian men

Hammami

Kilani

Khelifa

et al. 2014

Annales De Biologie Clinique

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Yq microdeletions are the leading genetic cause of male infertility and its detection in clinically relevant for appropriate genetic counseling. The objective of this study was to determine the frequency of Y microdeletion in a group of Tunisian infertile men and to compare the prevalence of these abnormalities with other countries and other Tunisian reported series. Totally, 105 Tunisian idiopathic infertile men (74 azoospermic and 31 severe oligozoospermic) were screened for the presence of Y chromosome microdeletions. The screening of Yq microdeletions was performed by two multiplex PCRs using six STS markers recommended by the EAA/EMQN. No microdeletions were detected in the men with severe oligozoospermia. In the azoospermic group, 2/74 (2.7%) patients showed Y chromosome microdeletions. Both had complete deletion of the AZFc region. No microdeletion was identified in the AZFa region or in the AZFb region. The estimated frequency of Y chromosome microdeletions in the present survey was similar to some other reports but lower than that of previous reports in Tunisian populations.

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Section: Resultssupporting

confidence: 48%

“…Differences in the methods applied for the Yq microdeletion screening in Tunisian studies might account for varying deletion frequencies. The choice and number of STS markers differed widely, ranging from 6[6,19,20] to 20 STS[21] despite the fact that Simoni et al showed that the detection rate did not depend on the number and choice of markers used…”

mentioning

confidence: 99%

Prevalence of Y chromosome microdeletions in infertile Tunisian men

Hammami

Kilani

Khelifa

et al. 2014

Annales De Biologie Clinique

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“…In addition, several studies have investigated whether the b2/b3 or b1/b3 subdeletions are associated with spermatogenic failure. However, they also have produced mixed results [16][17][18][19][20][21][22]. Therefore, the present results may be reasonable.…”

Section: Discussionsupporting

confidence: 48%

“…The b1/b3 and b2/b3 subdeletions are also associated with male infertility [16][17][18][19]. However, several studies could not link these subdeletions to male infertility [15,[20][21][22].…”

Section: Introductionmentioning

confidence: 99%

Y Chromosome gr/gr Subdeletion Is Associated with Lower Semen Quality in Young Men from the General Japanese Population but Not in Fertile Japanese Men1

Sato

Iwamoto

Shinka

et al. 2014

Biology of Reproduction

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Several case-control studies have investigated whether Y chromosome haplogroups or deletions are associated with spermatogenic failure. However, the relationships between Y chromosome haplogroups or deletions and semen quality in general population have not been elucidated. In this study, we assessed relationships between Y chromosome haplogroups or deletions and semen parameters in 791 fertile Japanese men and 1221 young men from the general Japanese population. We found that the haplogroup D2 (M55 lineage) was significantly associated with lower semen parameters, especially total motile sperm count (P = 0.00051, beta = -0.097), in men from the general population but not in fertile men. In addition, we found that the gr/gr subdeletion was associated with semen quality and in particular, strongly associated with decreased sperm motility (P = 0.00041, beta = -3.14) and total motile sperm count (P = 0.00031, beta = -0.099) in men from the general population but not in fertile men. The combined analysis of fertile Japanese men and men from the general Japanese population showed that the haplogroup D2 (M55 lineage) and the gr/gr subdeletion were strongly associated with reduced sperm motility (P = 0.00056, beta = -2.71, and P = 7.7 × 10(-5), beta = -3.05, respectively) and that haplogroup O2b1 was strongly associated with elevated sperm motility (P = 0.00089, beta = 2.94). These observations add further support for the view that the gr/gr subdeletion diminishes sperm motility that consequently may result in male infertility.

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“…While in some studies the frequency of AZFc subdeletions (mainly the gr/gr) is higher in infertile men as compared to fertile controls [5,11,[20][21][22]; others have failed to confirm this association [23,24]. Based on four meta-analysis studies and a large population study involving >20,000 individuals it appears that the gr/gr deletion is a risk factor for male infertility [13,20,21,25,26]; the odds ratio is estimated to be 1.4-2.4 [5,20,21,25,26].…”

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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Partial Microdeletions in the Y-Chromosome AZFc Region Are Not a Significant Risk Factor for Spermatogenic Impairment in Tunisian Infertile Men

Cited by 14 publications

References 37 publications

Prevalence of Y chromosome microdeletions in infertile Tunisian men

Prevalence of Y chromosome microdeletions in infertile Tunisian men

Y Chromosome gr/gr Subdeletion Is Associated with Lower Semen Quality in Young Men from the General Japanese Population but Not in Fertile Japanese Men1

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

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