ArticleJournal of medical genetics2009
Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background.
Article in Journal of medical genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
33 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Gr/gr deletions on Y-chromosome correlate with male infertility: an original study, meta-analyses, and trial sequential analyses.Scientific reports · 2016Pooled it
- EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.Andrology · 2014Guideline
- Trial
- Article
- Frequency, morbidity and equity - the case for increased research on male fertility.Nature reviews. Urology · 2024Review
- Optimization of Multiplex-PCR Technique To Determine Azf Deletions in infertility Male Patients.International journal of general medicine · 2024Article
- Article
- Y-microdeletions: a review of the genetic basis for this common cause of male infertility.Translational andrology and urology · 2021Review
- Genetic disorders and male infertility.Reproductive medicine and biology · 2020Review
- High frequencies of Non Allelic Homologous Recombination (NAHR) events at the AZF loci and male infertility risk in Indian men.Scientific reports · 2019Article
- Spermatogenic failure and the Y chromosome.Human genetics · 2017Review
- Human Y chromosome copy number variation in the next generation sequencing era and beyond.Human genetics · 2017Review
- Relationship between AZFc deletions and testicular histology in infertile South Chinese men with azoospermia and severe oligospermia.SpringerPlus · 2016Article
- Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions.Journal of assisted reproduction and genetics · 2015Article
- Common AZFc structure may possess the optimal spermatogenesis efficiency relative to the rearranged structures mediated by non-allele homologous recombination.Scientific reports · 2015Article
- Deletion and duplication at DYS448 and DYS626 loci: unexpected patterns within the AZFc region of the Y-chromosome.International journal of legal medicine · 2015Article
- Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification.Journal of human genetics · 2015Article
- Impact of Y chromosome AZFc subdeletion shows lower risk of fertility impairment in Siddi tribal men, Western Ghats, India.Basic and clinical andrology · 2015Article
- Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.European journal of human genetics : EJHG · 2014Article
- Genetic evaluation of male infertility.Translational andrology and urology · 2014Review
Corrections and comments
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Authors and funding
19 authors.
Funding
Abstract
backgroundPrevious studies have compared sperm phenotypes between men with partial deletions within the AZFc region of the Y chromosome and non-carriers, with variable results. In this study, a separate question was investigated, the basis of the variation in sperm phenotype within gr/gr deletion carriers, which ranges from normozoospermia to azoospermia. Differences in the genes removed by independent gr/gr deletions, the occurrence of subsequent duplications or the presence of linked modifying variants elsewhere on the chromosome have been suggested as possible causal factors. This study set out to test these possibilities in a large sample of gr/gr deletion carriers with known phenotypes spanning the complete range.
resultsIn total, 169 men diagnosed with gr/gr deletions from six centres in Europe and one in Australia were studied. The DAZ and CDY1 copies retained, the presence or absence of duplications and the Y-chromosomal haplogroup were characterised. Although the study had good power to detect factors that accounted for >or=5.5% of the variation in sperm concentration, no such factor was found. A negative effect of gr/gr deletions followed by b2/b4 duplication was found within the normospermic group, which remains to be further explored in a larger study population. Finally, significant geographical differences in the frequency of different subtypes of gr/gr deletions were found, which may have relevance for the interpretation of case control studies dealing with admixed populations.
conclusionsThe phenotypic variation of gr/gr carriers in men of European origin is largely independent of the Y-chromosomal background.
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