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Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case–control study

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

To determine the prevalence of South Amerindian Y chromosome in Chilean patients with spermatogenic failure and their association with classical and/or AZFc-partial Y chromosome deletions.

Methods

We studied 400 men, 218 with secretory azo/oligozoospermia (cases) and 182 controls (116 fertile and/or normozoospermic, and 66 azoospermic with normal spermatogenesis). After a complete testicular characterization (physical evaluation, hormonal and/or biopsy) peripheral blood was drawn to obtain DNA for Y chromosome microdeletions, AZFc-partial deletions and biallelic analysis by allele specific polymerase chain reaction (PCR) of the M3 (rs3894) single nucleotide polymorphism (SNP).

Results

Classical AZF microdeletions were found in 23 cases (Y-microdeleted). AZFc-partial deletions were observed in 10 cases (6 “gr/gr”, 3 “b2/b3” and 1 “b1/b3”) and 4 controls (4 “gr/gr”). The AZFc-partial deletions were mainly associated with the absence of DAZ1/DAZ2 (64 %). No significant differences in the prevalence of AZFc-partial deletions were observed between cases and controls. We observed a significant higher proportion of the Q1a3a haplogroup in Y-microdeleted men compared to patients with spermatogenic failure without deletions and control men (P < 0.01 and P < 0.05, respectively by Bonferroni test). Among them, patients with AZFb deletions had an increased prevalence of the Q1a3a haplogroup compared to controls, cases without deletions and to those with complete or partial-AZFc deletions (P < 0.01, Bonferroni test).

Conclusions

The Q1a3a South Amerindian lineage seems to increase the susceptibility to non AZFc microdeletions. On the other hand, in Chilean population the AZFc-partial deletions (“gr/gr”, “b1/b3” and/or “b2/b3”) does not seem to predispose to severe spermatogenic impairment.

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Acknowledgments

We would like to thank all the men who generously accepted to participate in the study.

This work was supported by the Grant no. 1060081, National Fund for the Scientific and Technological Development (FONDECYT) of Chile.

Author information

Authors and Affiliations

  1. Institute of Maternal and Child Research, School of Medicine, University of Chile, Santa Rosa 1234, Santiago, Chile

    María C. Lardone, Altinay Marengo, Alexis Parada-Bustamante & Andrea Castro

  2. Human Genetics Program, Biomedical Sciences Institute, School of Medicine, University of Chile, Av. Independencia 1027, Santiago, Chile

    Lucía Cifuentes

  3. School of Medicine, Andrés Bello University, Fernández Concha 700, Santiago, Chile

    Antonio Piottante

  4. San Borja Arriarán Clinical Hospital, Santa Rosa 1234, Santiago, Chile

    Mauricio Ebensperger

  5. José Joaquín Aguirre Clinical Hospital, School of Medicine, University of Chile, Santos Dumont 999, Santiago, Chile

    Raúl Valdevenito

Authors
  1. María C. Lardone
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  8. Andrea Castro
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Correspondence to Andrea Castro.

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Capsule

The Q1a3a South Amerindian lineage, defined by a C>T mutation in the DYS199 locus on the Y chromosome, seems to increase the susceptibility to AZF microdeletions in a Chilean population of infertile men.

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Lardone, M.C., Marengo, A., Parada-Bustamante, A. et al. Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case–control study. J Assist Reprod Genet 30, 531–538 (2013). https://doi.org/10.1007/s10815-013-9950-z

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