ArticleHuman genetics2008
Partial AZFc deletions and duplications: clinical correlates in the Italian population.
Article in Human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
47 citing papers in PubMed, 2 syntheses or guidelines pooled it, 115 citations in OpenAlex.
- 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
- Interaction Between Telocytes and Mast Cells in Genetically Determined Non-Obstructive Azoospermia with AZFc Deletion: An Ultrastructural Study.International journal of molecular sciences · 2026Article
- Article
- Correlation of MTHFR C677T Polymorphism with Male Infertility among Indian Population: Case-Control Study.Journal of pharmacy & bioallied sciences · 2024Article
- A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region.Frontiers in genetics · 2024Article
- Detection of AZFc gene deletion in a cohort of Egyptian patients with idiopathic male infertility.Journal, genetic engineering & biotechnology · 2023Article
- Comprehensive copy number analysis of Y chromosome-linked loci for detection of structural variations and diagnosis of male infertility.Journal of human genetics · 2022Article
- Article
- Y-Chromosome Microdeletions: A Review of Prevalence, Screening, and Clinical Considerations.The application of clinical genetics · 2021Review
- Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome haplogroups.Journal of assisted reproduction and genetics · 2020Article
- Do partial AZFc deletions affect the sperm retrieval rate in non-mosaic Klinefelter patients undergoing microdissection testicular sperm extraction?BMC urology · 2020Article
- Y-chromosome haplogroup architecture confers susceptibility to azoospermia factor c microrearrangements: a retrospective study.Croatian medical journal · 2019Article
- High frequencies of Non Allelic Homologous Recombination (NAHR) events at the AZF loci and male infertility risk in Indian men.Scientific reports · 2019Article
- Identifying Novel Copy Number Variants in Azoospermia Factor Regions and Evaluating Their Effects on Spermatogenic Impairment.Frontiers in genetics · 2019Article
- Genetics of male infertility.Nature reviews. Urology · 2018Review
- Human Y-chromosome variation in the genome-sequencing era.Nature reviews. Genetics · 2017Review
- Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.Molecular syndromology · 2017Article
- Spermatogenic failure and the Y chromosome.Human genetics · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
The role of partial AZFc deletions of the Y chromosome in spermatogenic impairment is currently debated. Recently, it was also reported that duplications of the same region are associated with oligozoospermia in Han-Chinese men. The aims of this study were (1) to evaluate the clinical significance of partial AZFc deletions in a large study population and (2) to define if partial AZFc duplications are a risk factor for spermatogenic failure also in a Caucasian population such as the Italian. We screened 556 infertile patients and 487 normozoospermic controls for partial AZFc deletions with a combined method based on STS+/- followed by CDY1-DAZ gene dosage and copy analysis. For the second aim, we performed CDY1-DAZ gene dosage in 229 infertile patients and 263 normozoospermic controls. The frequency of gr/gr deletions in patients was significantly different from the controls (3.2 vs. 0.4%, respectively; P < 0.001), with an OR = 7.9 (95% CI 1.8-33.8). b2/b3 deletions were rare in both groups (0.5% in patients, 0.2% in controls). Concerning gr/gr duplications, we observed no significant differences in their frequency between cases (2.6%) and controls (3.8%). This is the largest study population in the literature in which all potential methodological and selection biases were carefully avoided to detect the clinical significance of partial AZFc deletions and duplications. Our study provides strong evidence that gr/gr deletion is a risk factor for impaired spermatogenesis, whereas we did not detect a significant effect of b2/b3 deletions and partial AZFc duplications on spermatogenesis in this Caucasian ethnic group.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.