Single-nucleotide polymorphism rs 175080 in the MLH3 gene and its relation to male infertility
Ημερομηνία
2015Γλώσσα
en
Λέξη-κλειδί
Επιτομή
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. © 2015, Springer Science+Business Media New York.
Collections
Related items
Showing items related by title, author, creator and subject.
-
Simulating real-life exposures to uncover possible risks to human health: A proposed consensus for a novel methodological approach
Tsatsakis A.M., Kouretas D., Tzatzarakis M.N., Stivaktakis P., Tsarouhas K., Golokhvast K.S., Rakitskii V.N., Tutelyan V.A., Hernandez A.F., Rezaee R., Chung G., Fenga C., Engin A.B., Neagu M., Arsene A.L., Docea A.O., Gofita E., Calina D., Taitzoglou I., Liesivuori J., Hayes A.W., Gutnikov S., Tsitsimpikou C. (2017)In real life, consumers are exposed to complex mixtures of chemicals via food, water and commercial products consumption. Since risk assessment usually focuses on individual compounds, the current regulatory approach doesn't ... -
Fibroblast Growth Factor 23 (FGF23) and Klotho Protein in Beta-Thalassemia
Stefanopoulos D., Nasiri-Ansari N., Dontas I., Vryonidou A., Galanos A., Psaridi L., Fatouros I.G., Mastorakos G., Papavassiliou A.G., Kassi E., Tournis S. (2020)Derangements in phosphate and calcium homeostasis are common in patients with beta-thalassemia. Fibroblast growth factor 23 (FGF23) is among the main hormones regulating phosphate levels, while several studies underline ... -
Effects of Freezing and Thawing Procedures on Selected Clinical Chemistry Parameters in Plasma
Freiburghaus K., Leichtle A.B., Nakas C.T., Fiedler G.M., Largiader C.R. (2020)Introduction: Measurements from frozen sample collections are important key indicators in clinical studies. It is a prime concern of biobanks and laboratories to minimize preanalytical bias and variance through standardization. ...