title: Single-nucleotide polymorphism rs 175080 in the MLH3 gene and its relation to male infertility.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Obstetrics and Gynecology, University of Thessaly, School of Health Sciences, Faculty of Medicine, 41110 Viopolis, Larissa, Greece.
authors.forename: Ourania
authors.initials: O
authors.lastname: Markandona
authors.affiliation: Department of Obstetrics and Gynecology, University of Thessaly, School of Health Sciences, Faculty of Medicine, 41110 Viopolis, Larissa, Greece.
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Dafopoulos
authors.affiliation: Department of Obstetrics and Gynecology, University of Thessaly, School of Health Sciences, Faculty of Medicine, 41110 Viopolis, Larissa, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Anifandis
authors.affiliation: Department of Obstetrics and Gynecology, University of Thessaly, School of Health Sciences, Faculty of Medicine, 41110 Viopolis, Larissa, Greece.
authors.forename: Christina I
authors.initials: CI
authors.lastname: Messini
authors.affiliation: Department of Obstetrics and Gynecology, University of Thessaly, School of Health Sciences, Faculty of Medicine, 41110 Viopolis, Larissa, Greece.
authors.forename: Marina
authors.initials: M
authors.lastname: Dimitraki
authors.affiliation: Department of Cytogenetics and Molecular Genetics, University of Thessaly, School of Health Sciences, Faculty of Medicine, Larissa, Greece.
authors.forename: Aspasia
authors.initials: A
authors.lastname: Tsezou
authors.affiliation: Department of Nuclear Medicine, University of Thessaly, School of Health Sciences, Faculty of Medicine, Larissa, Greece.
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Georgoulias
authors.affiliation: Department of Obstetrics and Gynecology, University of Thessaly, School of Health Sciences, Faculty of Medicine, 41110 Viopolis, Larissa, Greece. messinis@med.uth.gr.
authors.forename: Ioannis E
authors.initials: IE
authors.lastname: Messinis
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D000070956:MutL Proteins; D009845:Oligospermia / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D055101:Semen Analysis
chemical_list: D002352:Carrier Proteins; C403623:MLH3 protein, human; D000070956:MutL Proteins
keywords: MLH3 gene; Male infertility; Polymorphisms; Sperm parameters