Greater Prevalence of Y Chromosome Q1a3a Haplogroup in Y-microdeleted Chilean Men: a Case-control Study

Overview

Journal J Assist Reprod Genet

Publisher Springer

Specialties Genetics
Reproductive Medicine

Date 2013 Feb 8

PMID 23388839

Citations 6

Authors

Maria C Lardone

Altinay Marengo

Alexis Parada-Bustamante

Lucia Cifuentes

Antonio Piottante

Mauricio Ebensperger

Raul Valdevenito

Andrea Castro

Affiliations

Soon will be listed here.

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.

Citing Articles

Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome haplogroups.

Lardone M, Ortega V, Ortiz E, Florez M, Piottante A, Ebensperger M J Assist Reprod Genet. 2020; 37(12):3109-3119.

PMID: 33034826 PMC: 7714878. DOI: 10.1007/s10815-020-01957-6.

Deletion of b1/b3 shows risk for expanse of Yq microdeletion in male offspring: Case report of novel Y chromosome variations.

Liu X, Zhang H, Yu Y, Fei J, Jiang Y, Liu R Medicine (Baltimore). 2020; 99(37):e22124.

PMID: 32925763 PMC: 7489624. DOI: 10.1097/MD.0000000000022124.

Dispersals of the Siberian Y-chromosome haplogroup Q in Eurasia.

Huang Y, Pamjav H, Flegontov P, Stenzl V, Wen S, Tong X Mol Genet Genomics. 2017; 293(1):107-117.

PMID: 28884289 PMC: 5846874. DOI: 10.1007/s00438-017-1363-8.

Associations between male infertility and ancestry in South Americans: a case control study.

Skowronek M, Velazquez T, Mut P, Figueiro G, Sans M, Bertoni B BMC Med Genet. 2017; 18(1):78.

PMID: 28747152 PMC: 5530489. DOI: 10.1186/s12881-017-0438-z.

Spermatogenic failure and the Y chromosome.

Krausz C, Casamonti E Hum Genet. 2017; 136(5):637-655.

PMID: 28456834 DOI: 10.1007/s00439-017-1793-8.

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