• PMID: 26520453
• Gene Name: MLH3
• Condition: Male infertility, oligozoospermia
• Association: It is suggested that the studied SNP in the MLH3 gene may be linked to oligozoospermia in Caucasian men of a certain area.
• PMID: 26520453
• Gene Name: MLH3
• Condition: Oligozoospermia, Male infertility
• Association: Associated
• Population size: 300 couples
• Population details: 300 (122 controls, 178 infertile males)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Oligozoospermia, Male infertility

Single-nucleotide polymorphism rs 175080 in the MLH3 gene and its relation to male infertility

Markandona O, Dafopoulos K, Anifandis G, Messini CI, Dimitraki M, Tsezou A, Georgoulias P, Messinis IE.

PURPOSE: MLH3, a MutL homolog protein in mammals playing a role in DNA mismatch repair, is associated with spermatogenesis and male infertility. The purpose of the present study was to investigate the association of the single-nucleotide polymorphism (SNP), rs 175080 in the MLH3 gene, with sperm parameters in a Greek population. METHODS: The study included 300 men of couples undergoing in vitro fertilization/intracytoplasmic sperm injection-embryo transfer (IVF/ICSI-ET) treatments (years 2011-2013). Genomic DNA was extracted from 300 peripheral blood samples, and conventional quantitative real-time PCR was performed for genotyping. Of them, 122 were from men used as "controls" and 178 from men used as "cases." Allocation to the two groups was based on sperm concentrations (≥15 and <15 million/ml, respectively). Serum FSH, LH, estradiol, testosterone, and prolactin concentrations as well as sperm parameters were compared between three genotypes (GG, GA, and AA). Furthermore, the frequencies of these three genotypes were compared between "cases" and "controls." RESULTS: Anthropometric parameters and hormonal values did not differ significantly between the three genotypes. Significantly lower sperm concentrations were found in men with the AA genotype as compared to men with the GG and GA genotypes (p < 0.001). The AA genotype had the lower progressive motility values as compared to the other two genotypes (p < 0.05). Also, there was a significantly different distribution of the frequencies of the three genotypes between "cases" and "controls" (p < 0.001). CONCLUSIONS: It is suggested that the studied SNP in the MLH3 gene may be linked to oligozoospermia in Caucasian men of a certain area. FAU - Markandona, Ourania AU - Markandona O AD - Department of Obstetrics and Gynecology, University of Thessaly, School of Health Sciences, Faculty of Medicine, 41110 Viopolis, Larissa, Greece. FAU - Dafopoulos, Konstantinos AU - Dafopoulos K AD - Department of Obstetrics and Gynecology, University of Thessaly, School of Health Sciences, Faculty of Medicine, 41110 Viopolis, Larissa, Greece. FAU - Anifandis, George AU - Anifandis G AD - Department of Obstetrics and Gynecology, University of Thessaly, School of Health Sciences, Faculty of Medicine, 41110 Viopolis, Larissa, Greece. FAU - Messini, Christina I AU - Messini CI AD - Department of Obstetrics and Gynecology, University of Thessaly, School of Health Sciences, Faculty of Medicine, 41110 Viopolis, Larissa, Greece. FAU - Dimitraki, Marina AU - Dimitraki M AD - Department of Obstetrics and Gynecology, University of Thessaly, School of Health Sciences, Faculty of Medicine, 41110 Viopolis, Larissa, Greece. FAU - Tsezou, Aspasia AU - Tsezou A AD - Department of Cytogenetics and Molecular Genetics, University of Thessaly, School of Health Sciences, Faculty of Medicine, Larissa, Greece. FAU - Georgoulias, Panagiotis AU - Georgoulias P AD - Department of Nuclear Medicine, University of Thessaly, School of Health Sciences, Faculty of Medicine, Larissa, Greece.