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Association of MOV10L1 gene polymorphisms and male infertility in azoospermic men with complete maturation arrest
Purpose The present research was undertaken to study probable genetic variations of MOV10L1 in 30 infertile men that had complete maturation arrest in their spermatocyte levels and 70 fertile men as the control group. Methods We performed polymerase chain reaction single strand conformation polymorp...
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| Published in: | Journal of assisted reproduction and genetics 2014-07, Vol.31 (7), p.865-871 |
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| container_title | Journal of assisted reproduction and genetics |
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| creator | Sarkardeh, Homa Totonchi, Mehdi Asadpour, Ommolbanin Sadighi Gilani, Mohammad Ali Zamani Esteki, Masoud Almadani, Navid Borjian Boroujeni, Parnaz Gourabi, Hamid |
| description | Purpose
The present research was undertaken to study probable genetic variations of
MOV10L1
in 30 infertile men that had complete maturation arrest in their spermatocyte levels and 70 fertile men as the control group.
Methods
We performed polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) on extracted DNAs and sequencing was used to confirm the results. Identified polymorphisms in the
MOV10L1
were further subjected to a haplotype analysis.
Results
We identified eight single nucleotide polymorphisms (SNPs): one missense (rs2272837) and four nonsense polymorphisms (rs2272836, rs11704548, rs2272838, rs138271) in the exonic sequences and three polymorphisms (rs12170772, rs2272840, rs17248147) in the intronic regions. With the exception of rs2272838, there was a statistically significant association in all polymorphisms between study population (
P
|
| doi_str_mv | 10.1007/s10815-014-0240-1 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4096888</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1545417161</sourcerecordid><originalsourceid>FETCH-LOGICAL-c536t-1ef26c2b3cd3834fd2a129f71905cb7ef61f1ee0aebd9e14b36b0fa280c5ad333</originalsourceid><addsrcrecordid>eNqNkV2L1TAQhoso7nr0B3gjAW-8qc40ST9uhGXxC47sjXob0nRyTpY26Satcvz1tnRdVkHwKgPzzJtJnix7jvAaAao3CaFGmQOKHAoBOT7IzlFWPK84h4dLDbLOQZT1WfYkpWsAaOqCP87OClFjBSDPs5uLlIJxenLBs2DZ56tvCHtkB_LExtCfhhDHo0tDYtp3bNA9Mectxcn1bjotNdM_Q0gjxcEZNpBnP9x0ZCYMY08TLRPTHLd4HSOl6Wn2yOo-0bPbc5d9ff_uy-XHfH_14dPlxT43kpdTjmSL0hQtNx2vubBdobFobIUNSNNWZEu0SASa2q4hFC0vW7C6qMFI3XHOd9nbLXec24E6Q36KuldjdIOOJxW0U392vDuqQ_iuBDRlXddLwKvbgBhu5mVzNbhkqO-1pzAnhVJKwKoRzX-gQgqssMQFffkXeh3m6JefWCnRlLAa3GW4USaGlCLZu70R1Opebe7V4l6t7tWa_OL-g-8mfstegGID0tLyB4r3rv5n6i_WgrvA</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1544960157</pqid></control><display><type>article</type><title>Association of MOV10L1 gene polymorphisms and male infertility in azoospermic men with complete maturation arrest</title><source>Springer Nature</source><source>PubMed Central</source><creator>Sarkardeh, Homa ; Totonchi, Mehdi ; Asadpour, Ommolbanin ; Sadighi Gilani, Mohammad Ali ; Zamani Esteki, Masoud ; Almadani, Navid ; Borjian Boroujeni, Parnaz ; Gourabi, Hamid</creator><creatorcontrib>Sarkardeh, Homa ; Totonchi, Mehdi ; Asadpour, Ommolbanin ; Sadighi Gilani, Mohammad Ali ; Zamani Esteki, Masoud ; Almadani, Navid ; Borjian Boroujeni, Parnaz ; Gourabi, Hamid</creatorcontrib><description>Purpose
The present research was undertaken to study probable genetic variations of
MOV10L1
in 30 infertile men that had complete maturation arrest in their spermatocyte levels and 70 fertile men as the control group.
Methods
We performed polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) on extracted DNAs and sequencing was used to confirm the results. Identified polymorphisms in the
MOV10L1
were further subjected to a haplotype analysis.
Results
We identified eight single nucleotide polymorphisms (SNPs): one missense (rs2272837) and four nonsense polymorphisms (rs2272836, rs11704548, rs2272838, rs138271) in the exonic sequences and three polymorphisms (rs12170772, rs2272840, rs17248147) in the intronic regions. With the exception of rs2272838, there was a statistically significant association in all polymorphisms between study population (
P
< 0.05). The result of haplotyping analysis showed ten possible haplotypes, from which five were significantly increased in infertile patients compared with the control group.
Conclusions
Our results suggest that
MOV10L1
gene polymorphisms in the studied infertile males with complete maturation arrest are linked to infertility.</description><identifier>ISSN: 1058-0468</identifier><identifier>EISSN: 1573-7330</identifier><identifier>DOI: 10.1007/s10815-014-0240-1</identifier><identifier>PMID: 24817005</identifier><language>eng</language><publisher>Boston: Springer US</publisher><subject>Adult ; Alleles ; Apoptosis ; Azoospermia - congenital ; Developmental biology ; DNA methylation ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetics ; Genomes ; Gynecology ; Haplotypes ; Human Genetics ; Humans ; Infertility ; Infertility, Male - genetics ; Infertility, Male - pathology ; Iran ; Male ; Males ; Medicine ; Medicine & Public Health ; Mutation ; Oligospermia - genetics ; Oligospermia - pathology ; Polymorphism ; Polymorphism, Single Nucleotide ; Proteins ; Reproductive Medicine ; Research centers ; RNA Helicases - genetics ; RNA, Small Interfering - genetics ; Spermatogenesis</subject><ispartof>Journal of assisted reproduction and genetics, 2014-07, Vol.31 (7), p.865-871</ispartof><rights>Springer Science+Business Media New York 2014</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c536t-1ef26c2b3cd3834fd2a129f71905cb7ef61f1ee0aebd9e14b36b0fa280c5ad333</citedby><cites>FETCH-LOGICAL-c536t-1ef26c2b3cd3834fd2a129f71905cb7ef61f1ee0aebd9e14b36b0fa280c5ad333</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096888/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096888/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24817005$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sarkardeh, Homa</creatorcontrib><creatorcontrib>Totonchi, Mehdi</creatorcontrib><creatorcontrib>Asadpour, Ommolbanin</creatorcontrib><creatorcontrib>Sadighi Gilani, Mohammad Ali</creatorcontrib><creatorcontrib>Zamani Esteki, Masoud</creatorcontrib><creatorcontrib>Almadani, Navid</creatorcontrib><creatorcontrib>Borjian Boroujeni, Parnaz</creatorcontrib><creatorcontrib>Gourabi, Hamid</creatorcontrib><title>Association of MOV10L1 gene polymorphisms and male infertility in azoospermic men with complete maturation arrest</title><title>Journal of assisted reproduction and genetics</title><addtitle>J Assist Reprod Genet</addtitle><addtitle>J Assist Reprod Genet</addtitle><description>Purpose
The present research was undertaken to study probable genetic variations of
MOV10L1
in 30 infertile men that had complete maturation arrest in their spermatocyte levels and 70 fertile men as the control group.
Methods
We performed polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) on extracted DNAs and sequencing was used to confirm the results. Identified polymorphisms in the
MOV10L1
were further subjected to a haplotype analysis.
Results
We identified eight single nucleotide polymorphisms (SNPs): one missense (rs2272837) and four nonsense polymorphisms (rs2272836, rs11704548, rs2272838, rs138271) in the exonic sequences and three polymorphisms (rs12170772, rs2272840, rs17248147) in the intronic regions. With the exception of rs2272838, there was a statistically significant association in all polymorphisms between study population (
P
< 0.05). The result of haplotyping analysis showed ten possible haplotypes, from which five were significantly increased in infertile patients compared with the control group.
Conclusions
Our results suggest that
MOV10L1
gene polymorphisms in the studied infertile males with complete maturation arrest are linked to infertility.</description><subject>Adult</subject><subject>Alleles</subject><subject>Apoptosis</subject><subject>Azoospermia - congenital</subject><subject>Developmental biology</subject><subject>DNA methylation</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetics</subject><subject>Genomes</subject><subject>Gynecology</subject><subject>Haplotypes</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Infertility</subject><subject>Infertility, Male - genetics</subject><subject>Infertility, Male - pathology</subject><subject>Iran</subject><subject>Male</subject><subject>Males</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mutation</subject><subject>Oligospermia - genetics</subject><subject>Oligospermia - pathology</subject><subject>Polymorphism</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Proteins</subject><subject>Reproductive Medicine</subject><subject>Research centers</subject><subject>RNA Helicases - genetics</subject><subject>RNA, Small Interfering - genetics</subject><subject>Spermatogenesis</subject><issn>1058-0468</issn><issn>1573-7330</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><recordid>eNqNkV2L1TAQhoso7nr0B3gjAW-8qc40ST9uhGXxC47sjXob0nRyTpY26Satcvz1tnRdVkHwKgPzzJtJnix7jvAaAao3CaFGmQOKHAoBOT7IzlFWPK84h4dLDbLOQZT1WfYkpWsAaOqCP87OClFjBSDPs5uLlIJxenLBs2DZ56tvCHtkB_LExtCfhhDHo0tDYtp3bNA9Mectxcn1bjotNdM_Q0gjxcEZNpBnP9x0ZCYMY08TLRPTHLd4HSOl6Wn2yOo-0bPbc5d9ff_uy-XHfH_14dPlxT43kpdTjmSL0hQtNx2vubBdobFobIUNSNNWZEu0SASa2q4hFC0vW7C6qMFI3XHOd9nbLXec24E6Q36KuldjdIOOJxW0U392vDuqQ_iuBDRlXddLwKvbgBhu5mVzNbhkqO-1pzAnhVJKwKoRzX-gQgqssMQFffkXeh3m6JefWCnRlLAa3GW4USaGlCLZu70R1Opebe7V4l6t7tWa_OL-g-8mfstegGID0tLyB4r3rv5n6i_WgrvA</recordid><startdate>20140701</startdate><enddate>20140701</enddate><creator>Sarkardeh, Homa</creator><creator>Totonchi, Mehdi</creator><creator>Asadpour, Ommolbanin</creator><creator>Sadighi Gilani, Mohammad Ali</creator><creator>Zamani Esteki, Masoud</creator><creator>Almadani, Navid</creator><creator>Borjian Boroujeni, Parnaz</creator><creator>Gourabi, Hamid</creator><general>Springer US</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20140701</creationdate><title>Association of MOV10L1 gene polymorphisms and male infertility in azoospermic men with complete maturation arrest</title><author>Sarkardeh, Homa ; Totonchi, Mehdi ; Asadpour, Ommolbanin ; Sadighi Gilani, Mohammad Ali ; Zamani Esteki, Masoud ; Almadani, Navid ; Borjian Boroujeni, Parnaz ; Gourabi, Hamid</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c536t-1ef26c2b3cd3834fd2a129f71905cb7ef61f1ee0aebd9e14b36b0fa280c5ad333</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adult</topic><topic>Alleles</topic><topic>Apoptosis</topic><topic>Azoospermia - congenital</topic><topic>Developmental biology</topic><topic>DNA methylation</topic><topic>Genetic Association Studies</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetics</topic><topic>Genomes</topic><topic>Gynecology</topic><topic>Haplotypes</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Infertility</topic><topic>Infertility, Male - genetics</topic><topic>Infertility, Male - pathology</topic><topic>Iran</topic><topic>Male</topic><topic>Males</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mutation</topic><topic>Oligospermia - genetics</topic><topic>Oligospermia - pathology</topic><topic>Polymorphism</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Proteins</topic><topic>Reproductive Medicine</topic><topic>Research centers</topic><topic>RNA Helicases - genetics</topic><topic>RNA, Small Interfering - genetics</topic><topic>Spermatogenesis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sarkardeh, Homa</creatorcontrib><creatorcontrib>Totonchi, Mehdi</creatorcontrib><creatorcontrib>Asadpour, Ommolbanin</creatorcontrib><creatorcontrib>Sadighi Gilani, Mohammad Ali</creatorcontrib><creatorcontrib>Zamani Esteki, Masoud</creatorcontrib><creatorcontrib>Almadani, Navid</creatorcontrib><creatorcontrib>Borjian Boroujeni, Parnaz</creatorcontrib><creatorcontrib>Gourabi, Hamid</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>ProQuest Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>ProQuest Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biological Sciences</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of assisted reproduction and genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sarkardeh, Homa</au><au>Totonchi, Mehdi</au><au>Asadpour, Ommolbanin</au><au>Sadighi Gilani, Mohammad Ali</au><au>Zamani Esteki, Masoud</au><au>Almadani, Navid</au><au>Borjian Boroujeni, Parnaz</au><au>Gourabi, Hamid</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of MOV10L1 gene polymorphisms and male infertility in azoospermic men with complete maturation arrest</atitle><jtitle>Journal of assisted reproduction and genetics</jtitle><stitle>J Assist Reprod Genet</stitle><addtitle>J Assist Reprod Genet</addtitle><date>2014-07-01</date><risdate>2014</risdate><volume>31</volume><issue>7</issue><spage>865</spage><epage>871</epage><pages>865-871</pages><issn>1058-0468</issn><eissn>1573-7330</eissn><abstract>Purpose
The present research was undertaken to study probable genetic variations of
MOV10L1
in 30 infertile men that had complete maturation arrest in their spermatocyte levels and 70 fertile men as the control group.
Methods
We performed polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) on extracted DNAs and sequencing was used to confirm the results. Identified polymorphisms in the
MOV10L1
were further subjected to a haplotype analysis.
Results
We identified eight single nucleotide polymorphisms (SNPs): one missense (rs2272837) and four nonsense polymorphisms (rs2272836, rs11704548, rs2272838, rs138271) in the exonic sequences and three polymorphisms (rs12170772, rs2272840, rs17248147) in the intronic regions. With the exception of rs2272838, there was a statistically significant association in all polymorphisms between study population (
P
< 0.05). The result of haplotyping analysis showed ten possible haplotypes, from which five were significantly increased in infertile patients compared with the control group.
Conclusions
Our results suggest that
MOV10L1
gene polymorphisms in the studied infertile males with complete maturation arrest are linked to infertility.</abstract><cop>Boston</cop><pub>Springer US</pub><pmid>24817005</pmid><doi>10.1007/s10815-014-0240-1</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1058-0468 |
| ispartof | Journal of assisted reproduction and genetics, 2014-07, Vol.31 (7), p.865-871 |
| issn | 1058-0468 1573-7330 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4096888 |
| source | Springer Nature; PubMed Central |
| subjects | Adult Alleles Apoptosis Azoospermia - congenital Developmental biology DNA methylation Genetic Association Studies Genetic Predisposition to Disease Genetics Genomes Gynecology Haplotypes Human Genetics Humans Infertility Infertility, Male - genetics Infertility, Male - pathology Iran Male Males Medicine Medicine & Public Health Mutation Oligospermia - genetics Oligospermia - pathology Polymorphism Polymorphism, Single Nucleotide Proteins Reproductive Medicine Research centers RNA Helicases - genetics RNA, Small Interfering - genetics Spermatogenesis |
| title | Association of MOV10L1 gene polymorphisms and male infertility in azoospermic men with complete maturation arrest |
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