Analysis of PRM1 and PRM2 Polymorphisms in Iranian Infertile Men with Idiopathic Teratozoospermia

Single nucleotide polymorphisms (SNPs) in a number of genes involved in sperm maturation are considered as one of the main factors for male infertility. The aim of the present case-control study was to examine the association of SNPs in protamine1 (PRM1) and protamine2 (PRM2) genes with idiopathic...

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Main Authors: Fatemeh Dehghanpour, Farzaneh Fesahat, Seyed Mohsen Miresmaeili, Ehsan Zare Mehrjardi, Ahmad Honarju, Ali Reza Talebi
Format: Article
Language:English
Published: Royan Institute (ACECR), Tehran 2019-04-01
Series:International Journal of Fertility and Sterility
Subjects:
Online Access:http://www.ijfs.ir/article_45527_03517e2f233bdb49fe030b5d774ec7ca.pdf
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author Fatemeh Dehghanpour
Farzaneh Fesahat
Seyed Mohsen Miresmaeili
Ehsan Zare Mehrjardi
Ahmad Honarju
Ali Reza Talebi
author_facet Fatemeh Dehghanpour
Farzaneh Fesahat
Seyed Mohsen Miresmaeili
Ehsan Zare Mehrjardi
Ahmad Honarju
Ali Reza Talebi
author_sort Fatemeh Dehghanpour
collection DOAJ
description Single nucleotide polymorphisms (SNPs) in a number of genes involved in sperm maturation are considered as one of the main factors for male infertility. The aim of the present case-control study was to examine the association of SNPs in protamine1 (PRM1) and protamine2 (PRM2) genes with idiopathic teratozoospermia. In this case-control study, some SNPs in PRM1 (c.49 C>T, c.102 G>T and c.230A>C) and PRM2 (rs545828790, rs115686767, rs201933708, rs2070923 and rs1646022) were investigated in 30 idiopathic infertile men with teratozoospermia (case group) in comparison with 35 fertile men (controls). Genotyping of SNPs was undertaken using polymerase chain reaction (PCR)-direct sequencing. For PRM1, c.230A>C, as a synonymous polymorphism, was detected in both teratozoo- spermic men (heterozygous n=26, homozygous minor n=1) allele frequency C(48) A(52) and controls (heterozygous n=15, homozygous minor n=4). All cases and controls were genotyped for rs545828790 in PRM2, a missense poly- morphism, as well as rs115686767 and rs201933708, both of which synonymous variants. The findings showed an intronic variant in PRM2 (rs2070923) was also present in both groups. Also, rs1646022, a missense polymorphism, occurred in teratozoospermic men (heterozygous n=10, homozygous minor n=5) and controls (heterozygous n=13, homozygous minor n=2). However, there were no significant differences in SNPs of PRM1 and PRM2 between the two groups, however, for c.230A>C, the frequency of the CA genotype was significantly higher in infertile men with teratozoospermia (P=0.001). We demonstrate that PRM2 G398C and A473C polymorphisms were associated with the teratozoospermia and its genetic variation was in relation to semen quality, sperm apoptosis, and morphology in the Iranian population. This study is a preliminary study and presenting data as part of a future comprehensive study to clinically establish whether these gene polymorphisms are biomarkers for susceptibility to teratozoospermia.
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spelling doaj.art-f6e97580054a4b3fa26f40a0cc28cb632022-12-21T18:13:59ZengRoyan Institute (ACECR), TehranInternational Journal of Fertility and Sterility2008-076X2008-07782019-04-01131778210.22074/ijfs.2019.565045527Analysis of PRM1 and PRM2 Polymorphisms in Iranian Infertile Men with Idiopathic TeratozoospermiaFatemeh Dehghanpour0Farzaneh Fesahat1Seyed Mohsen Miresmaeili2Ehsan Zare Mehrjardi3Ahmad Honarju4Ali Reza Talebi5Research and Clinical Center for Infertility, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran;Medical Biotechnology Research Center, Ashkezar Branch, Islamic Azad University, Yazd,Reproductive Immunology Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran4Department of Biology, Science and Arts University, Yazd, IranMedical Biotechnology Research Center, Ashkezar Branch, Islamic Azad University, Yazd, IranMedical Biotechnology Research Center, Ashkezar Branch, Islamic Azad University, Yazd, IranResearch and Clinical Center for Infertility, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, IranSingle nucleotide polymorphisms (SNPs) in a number of genes involved in sperm maturation are considered as one of the main factors for male infertility. The aim of the present case-control study was to examine the association of SNPs in protamine1 (PRM1) and protamine2 (PRM2) genes with idiopathic teratozoospermia. In this case-control study, some SNPs in PRM1 (c.49 C>T, c.102 G>T and c.230A>C) and PRM2 (rs545828790, rs115686767, rs201933708, rs2070923 and rs1646022) were investigated in 30 idiopathic infertile men with teratozoospermia (case group) in comparison with 35 fertile men (controls). Genotyping of SNPs was undertaken using polymerase chain reaction (PCR)-direct sequencing. For PRM1, c.230A>C, as a synonymous polymorphism, was detected in both teratozoo- spermic men (heterozygous n=26, homozygous minor n=1) allele frequency C(48) A(52) and controls (heterozygous n=15, homozygous minor n=4). All cases and controls were genotyped for rs545828790 in PRM2, a missense poly- morphism, as well as rs115686767 and rs201933708, both of which synonymous variants. The findings showed an intronic variant in PRM2 (rs2070923) was also present in both groups. Also, rs1646022, a missense polymorphism, occurred in teratozoospermic men (heterozygous n=10, homozygous minor n=5) and controls (heterozygous n=13, homozygous minor n=2). However, there were no significant differences in SNPs of PRM1 and PRM2 between the two groups, however, for c.230A>C, the frequency of the CA genotype was significantly higher in infertile men with teratozoospermia (P=0.001). We demonstrate that PRM2 G398C and A473C polymorphisms were associated with the teratozoospermia and its genetic variation was in relation to semen quality, sperm apoptosis, and morphology in the Iranian population. This study is a preliminary study and presenting data as part of a future comprehensive study to clinically establish whether these gene polymorphisms are biomarkers for susceptibility to teratozoospermia.http://www.ijfs.ir/article_45527_03517e2f233bdb49fe030b5d774ec7ca.pdfsingle nucleotide polymorphismsspermteratozoospermia
spellingShingle Fatemeh Dehghanpour
Farzaneh Fesahat
Seyed Mohsen Miresmaeili
Ehsan Zare Mehrjardi
Ahmad Honarju
Ali Reza Talebi
Analysis of PRM1 and PRM2 Polymorphisms in Iranian Infertile Men with Idiopathic Teratozoospermia
International Journal of Fertility and Sterility
single nucleotide polymorphisms
sperm
teratozoospermia
title Analysis of PRM1 and PRM2 Polymorphisms in Iranian Infertile Men with Idiopathic Teratozoospermia
title_full Analysis of PRM1 and PRM2 Polymorphisms in Iranian Infertile Men with Idiopathic Teratozoospermia
title_fullStr Analysis of PRM1 and PRM2 Polymorphisms in Iranian Infertile Men with Idiopathic Teratozoospermia
title_full_unstemmed Analysis of PRM1 and PRM2 Polymorphisms in Iranian Infertile Men with Idiopathic Teratozoospermia
title_short Analysis of PRM1 and PRM2 Polymorphisms in Iranian Infertile Men with Idiopathic Teratozoospermia
title_sort analysis of prm1 and prm2 polymorphisms in iranian infertile men with idiopathic teratozoospermia
topic single nucleotide polymorphisms
sperm
teratozoospermia
url http://www.ijfs.ir/article_45527_03517e2f233bdb49fe030b5d774ec7ca.pdf
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