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Andrology Nov 2022The dynein-related genes may have a role in the etiology of male infertility, particularly in cases of impaired sperm motility. (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
The dynein-related genes may have a role in the etiology of male infertility, particularly in cases of impaired sperm motility.
OBJECTIVES
The goal of this review is to compile a list of the most important dynein-related candidate genes that may contribute to male factor infertility.
MATERIALS AND METHODS
Databases were searched using the keywords "dynein," "male," "infertility," and by applying strict inclusion criteria. A meta-analysis was also performed by using the eligible case-control studies. The odd ratios (ORs), the Z-test score, and the level of significance were determined using a fixed model with a p value of 0.05. Funnel plots were used to check for publication bias.
RESULTS
There were 35 studies that met the inclusion criteria. There were a total of 15 genes responsible for the production of dynein structural proteins, the production of dynein assembling factors, and potentially associated with male infertility. A total of five case-control studies were eligible for inclusion in the meta-analysis. Variants in the dynein-related genes were linked to an increased the risk of male infertility (OR = 21.52, 95% confidence interval 8.34-55.50, Z test = 6.35, p < 0.05). The percentage of heterogeneity, I , was 47.00%. The lack of variants in the dynein genes was an advantage, and this was statistically significant.
DISCUSSION
The results from the present review illustrate that pathogenic variants in genes both for dynein synthesis and for dynein assembly factors could be associated with isolated cases of male infertility without any other symptoms.
CONCLUSIONS
The genes addressed in this study, which are involved in both the production and assembly of dynein, could be used as molecular targets for future research into the etiology of sperm motility problems.
Topics: Dyneins; Humans; Infertility, Male; Male; Mutation; Sperm Motility; Spermatozoa
PubMed: 36057791
DOI: 10.1111/andr.13287 -
BMC Pulmonary Medicine Jul 2019Primary ciliary dyskinesia (PCD) is a rare genetic disorder. Although the genetic tests and new diagnostic algorithms have recently been recommended, clinical signs and... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Primary ciliary dyskinesia (PCD) is a rare genetic disorder. Although the genetic tests and new diagnostic algorithms have recently been recommended, clinical signs and electron microscope (EM) findings have historically been the mainstays of diagnosis in Asia. To characterize PCD previously reported in Japan, we conducted a systematic review and meta-analysis.
METHODS
A search using MEDLINE, EMBASE, and Japana Centra Revuo Medicina (in Japanese) databases was carried out to identify articles reporting PCD, Kartagener syndrome, or immotile cilia syndrome in Japanese patients and published between 1985 and 2015.
RESULTS
After excluding duplication from 334 reports, we extracted 316 patients according to the criteria. Diagnosis was most frequently made in adulthood (148 patients [46.8%] ≥ 18 years old, 24 patients [7.6%] < 1 year old, 68 patients [21.5%] 1-17 years old and 76 patients [24.1%] lacking information). Of the 230 patients (72.8%) who received EM examination, there were patients with inner dynein arm (IDA) defects (n = 55; 23.9%), outer dynein arm (ODA) defects (14; 6.1%), both ODA and IDA defects (57; 24.8%), other structural abnormalities (25; 10.9%), no abnormalities (4; 1.7%), and no detailed conclusion or description (75; 32.6%).
CONCLUSION
Delayed diagnosis of this congenital disease with high frequency of IDA defects and low frequency of ODA defects appear to be historical features of PCD reported in Japan, when EM was a main diagnostic tool. This review highlights problems experienced in this field, and provides basic information to establish a modernized PCD diagnosis and management system in the future.
Topics: Cilia; Delayed Diagnosis; Dyneins; Humans; Japan; Kartagener Syndrome; Microscopy, Electron
PubMed: 31345208
DOI: 10.1186/s12890-019-0897-4