Mitochondrial nicotinamide adenine dinucleotide hydride dehydrogenase (NADH) subunit 4 (MTND4) polymorphisms and their association with male infertility

Purpose The purpose of the present study was to determine the relationship between infertility and the polymorphisms of mitochondrial NADH dehydrogenase subunit 4 ( MTND4 ) by spermatozoa analysis in fertile and subfertile men. Methods Samples were divided into 68 subfertile men (case group) and 44...

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Bibliographic Details
Published in:Journal of assisted reproduction and genetics 2021-08, Vol.38 (8), p.2021-2029
Main Authors: Dahadhah, Fatina W., Jaweesh, Mayyas Saleh, Al Zoubi, Mazhar Salim, Alarjah, Manal Issam Abu, Hammadeh, Mohamad Eid, Amor, Houda
Format: Article
Language:English
Subjects:
Adenine
Adult
Case-Control Studies
Dehydrogenases
DNA, Mitochondrial - genetics
Gene frequency
Genetics
Genomes
Genotype
Gynecology
Human Genetics
Humans
Infertility
Infertility, Male - diagnosis
Infertility, Male - genetics
Male
Medicine
Medicine & Public Health
Middle Aged
Mitochondria - genetics
Mitochondrial DNA
NAD
NADH
NADH dehydrogenase
NADH Dehydrogenase - genetics
ND4 gene
Polymerase chain reaction
Polymorphism, Single Nucleotide
Population studies
Reproductive Medicine
Single-nucleotide polymorphism
Spermatozoa - metabolism
Spermatozoa - pathology
Statistical analysis
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Summary:Purpose The purpose of the present study was to determine the relationship between infertility and the polymorphisms of mitochondrial NADH dehydrogenase subunit 4 ( MTND4 ) by spermatozoa analysis in fertile and subfertile men. Methods Samples were divided into 68 subfertile men (case group) and 44 fertile men (control group). After semen analysis, samples were purified. The whole genome was extracted using a QIAamp DNA Mini Kit and the mitochondrial DNA was amplified by using the REPLI-g Mitochondrial DNA Kit. Polymerase chain reaction (PCR) was used to amplify the MT-ND4 gene. Then, samples were purified and sequenced using the Sanger method. Results Twenty-five single-nucleotide polymorphisms (SNPs) were identified in the MTND4 gene. The genotype frequencies of the study population showed a statistically significant association between rs2853495 G>A (Gly320Gly) and male infertility ( P = 0.0351). Similarly, the allele frequency test showed that rs2853495 G>A (Gly320Gly) and rs869096886 A>G (Leu164Leu) were significantly associated with male infertility (adjusted OR = 2.616, 95% CI = 1.374–4.983, P = 0.002; adjusted OR = 2.237, 95% CI = 1.245–4.017, P = 0.007, respectively). Conclusion In conclusion, our findings suggested that male infertility was correlated with rs2853495 and rs869096886 SNPs in MTND4 .
ISSN:1058-0468
1573-7330
1573-7330
DOI:10.1007/s10815-021-02199-w