• PMID: 26370461
• Gene Name: SLC22A5
• Condition: Male infertility
• Association: Not associated
• Mutation: SLC22A5 (-207C>G )
• Population size: 462
• Population details: 462 (206 infertile Caucasian males, 256 ethnically matched controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

Organic cation/carnitine transporter OCTN2 (SLC22A5) -207C>G (rs2631367) polymorphism is not associated with male infertility

Dro?dzik M, Oronowicz K, Piasecka M, Kazienko A, Rosiak A, Gill K, Dziedziejko V, Safranow K, Kurzawa R, Kurzawski M.

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. CI - Copyright © 2015 Society for Biology of Reproduction & the Institute of Animal Reproduction and Food Research of Polish Academy of Sciences in Olsztyn. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved. FAU - Droździk, Marek AU - Droździk M AD - Department of Experimental and Clinical Pharmacology, Pomeranian Medical University, Powstańców Wlkp. 72, 70-111 Szczecin, Poland. FAU - Oronowicz, Katarzyna AU - Oronowicz K AD - Department of Obstetrics and Gynecology, County Hospital, Mączna 4, 70-780 Szczecin, Poland. FAU - Piasecka, Malgorzata AU - Piasecka M AD - Department of Histology and Developmental Biology, Pomeranian Medical University, Żołnierska 48, 71-210 Szczecin, Poland. FAU - Kazienko, Anna AU - Kazienko A AD - Department of Reproductive Medicine and Gynecology, Pomeranian Medical University, Siedlecka 2, Police, Poland. FAU - Rosiak, Aleksandra AU - Rosiak A AD - Department of Histology and Developmental Biology, Pomeranian Medical University, Żołnierska 48, 71-210 Szczecin, Poland; VitroLive Fertility Clinic, Kasprzaka 2A, 71-074 Szczecin, Poland. FAU - Gill, Kamil AU - Gill K AD - Department of Histology and Developmental Biology, Pomeranian Medical University, Żołnierska 48, 71-210 Szczecin, Poland. FAU - Dziedziejko, Violetta AU - Dziedziejko V AD - Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Powstańców Wlkp. 72, 70-111 Szczecin, Poland. FAU - Safranow, Krzysztof AU - Safranow K AD - Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Powstańców Wlkp. 72, 70-111 Szczecin, Poland. FAU - Kurzawa, Rafał AU - Kurzawa R AD - Department of Reproductive Medicine and Gynecology, Pomeranian Medical University, Siedlecka 2, Police, Poland; VitroLive Fertility Clinic, Kasprzaka 2A, 71-074 Szczecin, Poland.