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PMID 29602729
Gene Name MAOA
Condition Asthenozoospermia, Male infertility
Association Associated
Mutation rs3788862
Population size 285
Population details 285 (182 normospermia, 103 asthenozoospermia)
Sex Male
Infertility type Male infertility
Other associated phenotypes Asthenozoospermia, Male infertility


Sperm count and motility are quantitatively affected by functional polymorphisms of HTR2A, MAOA and SLC18A

Cortés-Rodriguez M, Royo JL, Reyes-Palomares A, Lendínez AM, Ruiz-Galdón M, Reyes-Engel A.

Spermatozoa and neurones share similar membrane characteristics and features. Associations of multiple polymorphisms traditionally related to neurotransmission were investigated. Infertile men were grouped into controls with normospermia (n = 182) and idiopathic infertile men with asthenozoospermia (n = 103), and analysed as a case-control study and as a quantitative association of each genotype. Ten neurotransmission-associated genetic variants were mapped by SNP analysis using quantitative polymerase chain reaction with TaqMan probes. Men with HTR2A rs6313 had a higher risk of asthenozoospermia (OR = 2.14; P = 0.04). MAOA rs3788862 G carriers displayed an increased risk of asthenozoospermia (OR = 2.29; P = 0.02). The SLC18A1 rs1390938 G allele was more frequent among such cases (0.75 versus 0.87; P < 0.01 and P < 0.01 for Armitage trend test); for SLC18A1 rs2270641 P = 0.02 (case-control frequency) and P = 0.01 (Armitage trend test). MAOA rs3788862 was correlated with sperm motility (Spearman Ï = 0.14; P = 0.02); SLC18A1 rs1390938 was correlated with sperm count and motility (Spearman Ï = 0.20; P < 0.01). Gene polymorphisms of HTR2A, MAOA and SLC18A1, related to neurotransmission, are individually associated with asthenozoospermia through variation in sperm count and motility, without detectable allelic or genotype interaction. CI - Copyright © 2018 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved. FAU - Cortés-Rodriguez, Miriam AU - Cortés-Rodriguez M AD - Department of Biochemistry, Molecular Biology and Immunology, Faculty of Medicine, University of Malaga, 29071, Malaga, Spain. FAU - Royo, Jose-Luis AU - Royo JL AD - Department of Biochemistry, Molecular Biology and Immunology, Faculty of Medicine, University of Malaga, 29071, Malaga, Spain. FAU - Reyes-Palomares, Arturo AU - Reyes-Palomares A AD - Department of Biochemistry, Molecular Biology and Immunology, Faculty of Medicine, University of Malaga, 29071, Malaga, Spain; Instituto de Fertilidad Clínica Rincón, IVF Laboratory and I+D+i, 29730, Malaga, Spain. FAU - Lendínez, Ana M AU - Lendínez AM AD - Department of Biochemistry, Molecular Biology and Immunology, Faculty of Medicine, University of Malaga, 29071, Malaga, Spain; Clinical Laboratories Area, Agencia Sanitaria Costa del Sol, 29603, Marbella, Malaga, Spain. FAU - Ruiz-Galdón, Maximiliano AU - Ruiz-Galdón M AD - Department of Biochemistry, Molecular Biology and Immunology, Faculty of Medicine, University of Malaga, 29071, Malaga, Spain; Clinical Analysis Service, Virgen de la Victoria University Hospital, 29071, Malaga, Spain.