AZF deletions in Indian populations: original study and meta-analyses

  • Andrabi Syed Waseem
  • Vertika Singh
  • Girish Chandra Makker
  • Sameer Trivedi
  • Geetanjali Mishra
  • Kiran SinghEmail author
  • Singh RajenderEmail author



To identify the frequency of Y chromosome microdeletions in Indian populations and to quantitatively estimate the significance of association between these deletions and male infertility.


A total of 379 infertile males (302 azoospermic and 77 oligozoospermic infertile males) and 265 normozoospermic fertile males were evaluated for Y chromosome microdeletions (YCD) using PCR amplification and gel electrophoresis. Meta-analyses were performed on AZFa (2079 cases and 1217 controls), AZFb (2212 cases and 1267 controls), AZFc (4131 cases and 2008 controls), and AZFb+c (1573 cases and 942 controls) deletions data to quantitatively estimate the significance of association between these deletions and male infertility in Indian populations.


The results revealed that out of 379 infertile azoospermic and oligozoospermic males, 38 (10.02%) had AZF deletions. No deletion was found in control samples. The highest percentage of deletions was observed in the AZFc region, followed by AZFa and AZFb. Qualitative analysis showed that AZF deletions were present in 0.59 to 32.62% (average 13.48%) of infertile cases in Indian populations. Meta-analysis revealed a significant association of AZFa (OR = 6.74, p value = 0.001), AZFb (OR = 4.694, p value = 0.004), AZFc (OR = 13.575, p value = 0.000), and AZFb+c (OR = 5.946, p value = 0.018) deletions with male infertility.


AZF deletions were seen in 10.02% of azoospermic and oligozoospermic cases with the highest frequency of AZFc deletions. Pooled analysis for all studies showed deletion frequency from 0.59 to 32.62% (average = 13.48%). Meta-analysis showed significant association of AZFa, AZFb, and AZFb+c deletions with male infertility. Analysis of Y chromosome microdeletions should be reckoned as an essential testing for diagnostic and therapeutic purposes.


Y-deletions AZF deletions Azoospermia factor Male infertility Oligozoospermia Azoospermia 



Vertika Singh is thankful to the Council of Scientific and Industrial Research (CSIR), Govt. of India for SRF fellowship (09/013/(0765)/2018-EMR-I).

Funding information

Singh Rajender would like to thank the CSIR for funding (FTT-MLP0113-DeMID). Kiran Singh would like to thank the Indian Council of Medical Research (ICMR), Govt. of India, for financial support (5/10/FR/6/2018-RBMCH dt.19/060/2018).

Supplementary material

10815_2019_1661_MOESM1_ESM.xlsx (41 kb)
ESM 1 (XLSX 41 kb).
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ESM 2 (XLSX 10 kb).
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Supplementary figure 1. Begg’s funnel plot for analysis of publication bias. (JPG 1271 kb).
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Supplementary figure 2. Trial sequential analysis of the association between AZFa, AZFb, AZFc and AZFb+c deletions and male infertility. (JPG 1933 kb).


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2020

Authors and Affiliations

  1. 1.Department of ZoologyLucknow UniversityLucknowIndia
  2. 2.Department of Molecular & Human GeneticsBanaras Hindu UniversityVaranasiIndia
  3. 3.Makker Infertility ClinicLucknowIndia
  4. 4.Department of Urology, Institute of Medical SciencesBanaras Hindu UniversityVaranasiIndia
  5. 5.Division of EndocrinologyCentral Drug Research InstituteLucknowIndia

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