Ourania Markandona1, Konstantinos Dafopoulos1, George Anifandis1, Christina I Messini1, Marina Dimitraki1, Aspasia Tsezou2, Panagiotis Georgoulias3, Ioannis E Messinis4. 1. Department of Obstetrics and Gynecology, University of Thessaly, School of Health Sciences, Faculty of Medicine, 41110 Viopolis, Larissa, Greece. 2. Department of Cytogenetics and Molecular Genetics, University of Thessaly, School of Health Sciences, Faculty of Medicine, Larissa, Greece. 3. Department of Nuclear Medicine, University of Thessaly, School of Health Sciences, Faculty of Medicine, Larissa, Greece. 4. Department of Obstetrics and Gynecology, University of Thessaly, School of Health Sciences, Faculty of Medicine, 41110 Viopolis, Larissa, Greece. messinis@med.uth.gr.
Abstract
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.
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.
Entities:
Keywords:
MLH3 gene; Male infertility; Polymorphisms; Sperm parameters
Authors: Elda Cannavo; Giancarlo Marra; Jacob Sabates-Bellver; Mirco Menigatti; Steven M Lipkin; Franziska Fischer; Petr Cejka; Josef Jiricny Journal: Cancer Res Date: 2005-12-01 Impact factor: 12.701
Authors: Maria V Rogacheva; Carol M Manhart; Cheng Chen; Alba Guarne; Jennifer Surtees; Eric Alani Journal: J Biol Chem Date: 2014-01-08 Impact factor: 5.157
Authors: S M Lipkin; V Wang; R Jacoby; S Banerjee-Basu; A D Baxevanis; H T Lynch; R M Elliott; F S Collins Journal: Nat Genet Date: 2000-01 Impact factor: 38.330
Authors: Najla Al-Sweel; Vandana Raghavan; Abhishek Dutta; V P Ajith; Luigi Di Vietro; Nabila Khondakar; Carol M Manhart; Jennifer A Surtees; K T Nishant; Eric Alani Journal: PLoS Genet Date: 2017-08-21 Impact factor: 5.917