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Comparative Study
. 2015 Sep;32(9):1333-41.
doi: 10.1007/s10815-015-0520-4. Epub 2015 Jul 7.

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

S Sen  1 , P Ambulkar  2 , I Hinduja  3 , K Zaveri  3 , J Gokral  4 , A Pal  2 , D Modi  5
Affiliations
Comparative Study

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

S Sen et al. J Assist Reprod Genet. 2015 Sep.

Abstract

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.

Keywords: CDY1; DAZ; ICSI; Male infertility; Sperm concentration; gr/gr deletions.

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Figures

Fig. 1
Fig. 1
Frequency of AZFc subdeletions in fertile and infertile men. n are the number of men assessed for each fertility phenotype. Values above bars are the number of men with deletion. Asterisk indicates values statistically significant (p < 0.05) as compared to controls
Fig. 2
Fig. 2
Frequency of classical, subtype 1, subtype 2 and subtype 3 deletions in fertile and infertile men. n are the number of men assessed for each fertility phenotype. Values above bars are the number of men with deletion. The STS markers present (plus sign) or absent (minus sign) and the number of copies of DAZ and CDY1 gene in each category are given below the group. Asterisk indicates values statistically significant (p < 0.05) as compared to controls
Fig. 3
Fig. 3
Sperm concentration (million/milliliter) and percentage motile sperm in men with and without AZFc subdeletions. The men with AZFc subdeletions were classified as described in Supplementary Table V. n are the number of men assessed in each group. Small white circle indicates the outliers. Asterisk indicates values statistically significant (p < 0.05) as compared to controls
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