STUDY OF THREE SINGLE NUCLEOTIDE POLYMORPHISMS IN THE SLC6A14 GENE IN ASSOCIATION WITH MALE INFERTILITY
Noveski P1, Mircevska M1, Plaseski T2, Peterlin B3, Plaseska-Karanfilska D1,*
*Corresponding Author: Dijana Plaseska-Karanfilska, M.D., Ph.D., Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and Arts, Krste Misirkov 2, 1000 Skopje, Republic of Macedonia. Tel. +389-2-3235-410. Fax: +389-2-3115-434. E-mail: dijana@manu.edu.mk
page: 61

INTRODUCTION

Spermatogenesis is a complex biological process that involves mitosis, meiosis and spermiogenesis, that are under endocrine and paracrine regulation [1]. Many genes are specifically transcribed only during these processes and reduction or absence in their expression could lead to infertility or subfertility. Well-known genetic causes of male infertility include sex chromosome aneuploidies, Y chromosome AZF microdeletions and mutations in the CFTR and AR genes [2,3], but 60.0-75.0% of patients with male infertility appear to be idiopathic [4]. Besides genes that are directly involved and expressed during spermatogenesis in testicular tissue, others are ubiquitously transcribed during normal functioning of cells and genetic variation and impairment in their expression could lead to disruption of spermatogenesis. Pleiotropy, in which a gene has an effect on multiple phenotype traits [5] and variation in the gene could lead to different effects on each of these, is also possible. Moreover, genetic variation in several genes could combine as low-penetrant risk alleles and contribute to the phenotype outcome. We have previously investigated the association of nine single nucleotide polymorphisms (SNPs) in eight different genes with idiopathic male infertility on the basis of one genome-wide association study [6]. Our findings confirmed the association of SNPs rs5911500 in LOC203413, rs3088232 in BRDT and rs11204546 in OR2W3, in oligo-zoospermic and azoospermic men with infertility and of different ethnicity (Macedonians and Albanians) [7]. A minor allele of rs5911500 in LOC203413 retained strong association when we enlarged the group to include Slovenian males. This SNP on the long arm of chromosome X (Xq23) is in close proximity to the SLC6A14 (NM_ 007231.4) gene, which is a member of the solute carrier family 6 that transports neutral and cationic amino acids in a sodium- and chloride-dependent manner. It contains 14 exons and spans 29 kb [8]. The SNPs in this gene have been associated with obesity [9-11] and meconium illeus (a known clinical manifestation of cystic fibrosis) [12]. There is also evidence of pleiotropic effects of the SLC6A14 gene in other CF-related morbidities [13]. The SLC6A14 gene has high affinity for several amino acids, including tryptophan [8], and could be involved in regulation of tryptophan availability for serotonin synthesis [9]. In fact, serotonin has been shown to be necessary for normal spermatogenesis in prepubertal rats [14]. An association has also been demonstrated between serotonin and testosterone production [15], and between testicular blood flow and vasomotion [16] in rats. This study investigated the possible association of three SNPs (rs2312054, rs2071877 and rs2011162) in the SLC6A14 gene with idiopathic male infertility.



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