• PMID: 29602729
• Gene Name: SLC18A1
• Condition: Asthenozoospermia, Male infertility
• Association: Associated
• Mutation: rs1390938, rs2270641
• 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

Cort�s-Rodriguez M, Royo JL, Reyes-Palomares A, Lend�nez AM, Ruiz-Gald�n 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 ρ = 0.14; P = 0.02); SLC18A1 rs1390938 was correlated with sperm count and motility (Spearman ρ = 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.