title: Organic cation/carnitine transporter OCTN2 (SLC22A5) -207C>G (rs2631367) polymorphism is not associated with male infertility.
abstract: Carnitine is an important factor in the initiation of progressive sperm motility and end stage of sperm maturation. The compound is transported by an organic cation/carnitine transporter (OCTN2), which is expressed in the male reproductive system. OCTN2 is encoded by SLC22A5 gene with proven -207C>G functional polymorphism. The aim of the case-control study was to investigate a potential association between the -207C>G SLC22A5 polymorphism and male infertility. The -207C>G SLC22A5 polymorphism was determined by means of TaqMan assay in 206 infertile Caucasian males and 256 ethnically matched controls. Besides genotyping study, sperm mitochondrial function was assessed using NADH-dependent NBT assay. The distribution of SLC22A5 genotypes in infertile men was as follows: CC - 29.6%, CG - 53.9%, GG - 16.5% and in fertile men: CC - 32.0%, CG - 50.0%, GG - 18.0%, and was comparable in both evaluated groups. Likewise, the studied polymorphism did not affect sperm mitochondrial function. The results of the current study demonstrated that -207C>G polymorphism of the SLC22A5 gene is not associated with male infertility.
authors.affiliation: Department of Experimental and Clinical Pharmacology, Pomeranian Medical University, Powstańców Wlkp. 72, 70-111 Szczecin, Poland.
authors.forename: Marek
authors.initials: M
authors.lastname: Droździk
authors.affiliation: Department of Obstetrics and Gynecology, County Hospital, Mączna 4, 70-780 Szczecin, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Oronowicz
authors.affiliation: Department of Histology and Developmental Biology, Pomeranian Medical University, Żołnierska 48, 71-210 Szczecin, Poland.
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Piasecka
authors.affiliation: Department of Reproductive Medicine and Gynecology, Pomeranian Medical University, Siedlecka 2, Police, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Kazienko
authors.affiliation: Department of Histology and Developmental Biology, Pomeranian Medical University, Żołnierska 48, 71-210 Szczecin, Poland; VitroLive Fertility Clinic, Kasprzaka 2A, 71-074 Szczecin, Poland.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Rosiak
authors.affiliation: Department of Histology and Developmental Biology, Pomeranian Medical University, Żołnierska 48, 71-210 Szczecin, Poland.
authors.forename: Kamil
authors.initials: K
authors.lastname: Gill
authors.affiliation: Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Powstańców Wlkp. 72, 70-111 Szczecin, Poland.
authors.forename: Violetta
authors.initials: V
authors.lastname: Dziedziejko
authors.affiliation: Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Powstańców Wlkp. 72, 70-111 Szczecin, Poland.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Safranow
authors.affiliation: Department of Reproductive Medicine and Gynecology, Pomeranian Medical University, Siedlecka 2, Police, Poland; VitroLive Fertility Clinic, Kasprzaka 2A, 71-074 Szczecin, Poland.
authors.forename: Rafał
authors.initials: R
authors.lastname: Kurzawa
authors.affiliation: Department of Experimental and Clinical Pharmacology, Pomeranian Medical University, Powstańców Wlkp. 72, 70-111 Szczecin, Poland. Electronic address: mkurz@pum.edu.pl.
authors.forename: Mateusz
authors.initials: M
authors.lastname: Kurzawski
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D000074058:Solute Carrier Family 22 Member 5; D013094:Spermatozoa / Q000502:physiology; D055815:Young Adult
chemical_list: D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5
keywords: Genetic polymorphism; Male infertility; OCTN2; SLC22A5