
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 download article in pdf format
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Abstract
are known, the condition in around 60.0-75.0%
of infertile male patients appears to be idiopathic. In
some, genetic causes may be polygenic and require
several low-penetrance genes to produce a phenotype
outcome. In others, pleiotropy, when a gene can
produce several phenotypic traits, may be involved.
We have investigated whether single nucleotide polymorphisms
(SNPs) in the SLC6A14 [solute carrier
family 6 (amino acid transporter), member 14] gene
are associated with male infertility. This gene has
previously been linked with obesity and cystic fibrosis,
which are associated with male infertility. It has
a role in the transport of tryptophan and synthesis of
serotonin that are important for normal spermatogenesis
and testicular function. We have analyzed three
SNPs (rs2312054, rs2071877 and rs2011162) in 370
infertile men and 241 fertile controls from two different
populations (Macedonian and Slovenian). We
found that the rs2011162(G) allele and rs2312054(A)-
rs2071877(C)-rs2011162(G) haplotype are present
at lower frequencies in the infertile rather than the
fertile men (p = 0.044 and p = 0.0144, respectively).
We concluded that the SLC6A14 gene may be
a population-specific, low-penetrance locus which
confers susceptibility to male infertility/subfertility.
Additional follow-up studies of a large number
of infertile men of different ethnic backgrounds are
needed to confirm such a susceptibility.
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