Evaluation of five candidate genes from GWAS for association with oligozoospermia in a Han Chinese population
Oligozoospermia is one of the severe forms of idiopathic male infertility. However, its pathology is largely unknown, and few genetic factors have been defined. Our previous genome-wide association study (GWAS) has identified four risk loci for non-obstructive azoospermia (NOA). To investigate the p...
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| creator | Xu, Miaofei Qin, Yufeng Qu, Jianhua Lu, Chuncheng Wang, Ying Wu, Wei Song, Ling Wang, Shoulin Chen, Feng Shen, Hongbing Sha, Jiahao Hu, Zhibin Xia, Yankai Wang, Xinru |
| description | Oligozoospermia is one of the severe forms of idiopathic male infertility. However, its pathology is largely unknown, and few genetic factors have been defined. Our previous genome-wide association study (GWAS) has identified four risk loci for non-obstructive azoospermia (NOA).
To investigate the potentially functional genetic variants (including not only common variants, but also less-common and rare variants) of these loci on spermatogenic impairment, especially oligozoospermia.
A total of 784 individuals with oligozoospermia and 592 healthy controls were recruited to this study from March 2004 and January 2011.
We conducted a two-stage study to explore the association between oligozoospermia and new makers near NOA risk loci. In the first stage, we used next generation sequencing (NGS) in 96 oligozoospermia cases and 96 healthy controls to screen oligozoospermia-susceptible genetic variants. Next, we validated these variants in a large cohort containing 688 cases and 496 controls by SNPscan for high-throughput Single Nucleotide Polymorphism (SNP) genotyping.
Totally, we observed seven oligozoospermia associated variants (rs3791185 and rs2232015 in PRMT6, rs146039840 and rs11046992 in Sox5, rs1129332 in PEX10, rs3197744 in SIRPA, rs1048055 in SIRPG) in the first stage. In the validation stage, rs3197744 in SIRPA and rs11046992 in Sox5 were associated with increased risk of oligozoospermia with an odds ratio (OR) of 4.62 (P = 0.005, 95%CI 1.58-13.4) and 1.82 (P = 0.005, 95%CI 1.01-1.64), respectively. Further investigation in larger populations and functional characterizations are needed to validate our findings.
Our study provides evidence of independent oligozoospermia risk alleles driven by variants in the potentially functional regions of genes discovered by GWAS. Our findings suggest that integrating sequence data with large-scale genotyping will serve as an effective strategy for discovering risk alleles in the future. |
| doi_str_mv | 10.1371/journal.pone.0080374 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_plos_</sourceid><recordid>TN_cdi_plos_journals_1461965052</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><doaj_id>oai_doaj_org_article_b57c00c366414443a398958faca7379f</doaj_id><sourcerecordid>3138466511</sourcerecordid><originalsourceid>FETCH-LOGICAL-c526t-dffad04d75e5d626ab76db268acccdbd5e7bb13c7d4d27ca14a6181694182ac43</originalsourceid><addsrcrecordid>eNp1kk1v1DAQhiMEoqXwDxBY4ryLHX8lF6RqVdpKlTgA4mhN_LHrVZIJdrIV_HrSblq1B04eed7nndHoLYr3jK4Z1-zzHqfUQ7sesPdrSivKtXhRnLKalytVUv7ySX1SvMl5T6nklVKvi5NScMoprU-L7uIA7QRjxJ5gICEePLHQu-hg9GTre59JSNiRy1_n30nARCBntPFI3MZxR7CNW_yLmAefuggk9gTIFfRks4sz7smAw9TeA2-LVwHa7N8t71nx8-vFj83V6ubb5fXm_GZlZanGlQsBHBVOSy-dKhU0WrmmVBVYa13jpNdNw7jVTrhSW2ACFKuYqgWrSrCCnxUfj75Di9ksl8qGCcVqJaksZ8X1UeEQ9mZIsYP0xyBEc_-BaWsgjdG23jRSW0otV0owIQQHXle1rAJY0FzXYfb6skybms476_sxQfvM9HmnjzuzxYPhlWBMytng02KQ8Pfk8_iflcVRZRPmnHx4nMCouYvEA2XuImGWSMzYh6fbPUIPGeD_ALnqtp0</addsrcrecordid><sourcetype>Open Website</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1461965052</pqid></control><display><type>article</type><title>Evaluation of five candidate genes from GWAS for association with oligozoospermia in a Han Chinese population</title><source>MEDLINE</source><source>DOAJ Directory of Open Access Journals</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>PubMed Central</source><source>Free Full-Text Journals in Chemistry</source><source>Public Library of Science (PLoS)</source><creator>Xu, Miaofei ; Qin, Yufeng ; Qu, Jianhua ; Lu, Chuncheng ; Wang, Ying ; Wu, Wei ; Song, Ling ; Wang, Shoulin ; Chen, Feng ; Shen, Hongbing ; Sha, Jiahao ; Hu, Zhibin ; Xia, Yankai ; Wang, Xinru</creator><contributor>Miao, Xiaoping</contributor><creatorcontrib>Xu, Miaofei ; Qin, Yufeng ; Qu, Jianhua ; Lu, Chuncheng ; Wang, Ying ; Wu, Wei ; Song, Ling ; Wang, Shoulin ; Chen, Feng ; Shen, Hongbing ; Sha, Jiahao ; Hu, Zhibin ; Xia, Yankai ; Wang, Xinru ; Miao, Xiaoping</creatorcontrib><description>Oligozoospermia is one of the severe forms of idiopathic male infertility. However, its pathology is largely unknown, and few genetic factors have been defined. Our previous genome-wide association study (GWAS) has identified four risk loci for non-obstructive azoospermia (NOA).
To investigate the potentially functional genetic variants (including not only common variants, but also less-common and rare variants) of these loci on spermatogenic impairment, especially oligozoospermia.
A total of 784 individuals with oligozoospermia and 592 healthy controls were recruited to this study from March 2004 and January 2011.
We conducted a two-stage study to explore the association between oligozoospermia and new makers near NOA risk loci. In the first stage, we used next generation sequencing (NGS) in 96 oligozoospermia cases and 96 healthy controls to screen oligozoospermia-susceptible genetic variants. Next, we validated these variants in a large cohort containing 688 cases and 496 controls by SNPscan for high-throughput Single Nucleotide Polymorphism (SNP) genotyping.
Totally, we observed seven oligozoospermia associated variants (rs3791185 and rs2232015 in PRMT6, rs146039840 and rs11046992 in Sox5, rs1129332 in PEX10, rs3197744 in SIRPA, rs1048055 in SIRPG) in the first stage. In the validation stage, rs3197744 in SIRPA and rs11046992 in Sox5 were associated with increased risk of oligozoospermia with an odds ratio (OR) of 4.62 (P = 0.005, 95%CI 1.58-13.4) and 1.82 (P = 0.005, 95%CI 1.01-1.64), respectively. Further investigation in larger populations and functional characterizations are needed to validate our findings.
Our study provides evidence of independent oligozoospermia risk alleles driven by variants in the potentially functional regions of genes discovered by GWAS. Our findings suggest that integrating sequence data with large-scale genotyping will serve as an effective strategy for discovering risk alleles in the future.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0080374</identifier><identifier>PMID: 24303009</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Alleles ; Asian Continental Ancestry Group - genetics ; Case-Control Studies ; Cases (containers) ; China ; Chromosomes ; Education ; Epidemiology ; Exome ; Gene Frequency ; Genes ; Genetic diversity ; Genetic factors ; Genetic Predisposition to Disease ; Genetic variance ; Genetic Variation ; Genome-wide association studies ; Genome-Wide Association Study ; Genomes ; Genotype ; Genotyping ; High-Throughput Nucleotide Sequencing ; Humans ; Infertility ; Kinases ; Laboratories ; Loci ; Male ; Medicine ; MicroRNAs ; Oligospermia - genetics ; Oligozoospermia ; Polymorphism ; Polymorphism, Single Nucleotide ; Proteins ; Public health ; Reproductive health ; Review boards ; Risk ; Single-nucleotide polymorphism ; Spermatogenesis ; Studies ; Toxicology ; Transcription factors</subject><ispartof>PloS one, 2013-11, Vol.8 (11), p.e80374</ispartof><rights>2013 Xu et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/3.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2013 Xu et al 2013 Xu et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c526t-dffad04d75e5d626ab76db268acccdbd5e7bb13c7d4d27ca14a6181694182ac43</citedby><cites>FETCH-LOGICAL-c526t-dffad04d75e5d626ab76db268acccdbd5e7bb13c7d4d27ca14a6181694182ac43</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/PMC3841155/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841155/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79343,79344</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24303009$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Miao, Xiaoping</contributor><creatorcontrib>Xu, Miaofei</creatorcontrib><creatorcontrib>Qin, Yufeng</creatorcontrib><creatorcontrib>Qu, Jianhua</creatorcontrib><creatorcontrib>Lu, Chuncheng</creatorcontrib><creatorcontrib>Wang, Ying</creatorcontrib><creatorcontrib>Wu, Wei</creatorcontrib><creatorcontrib>Song, Ling</creatorcontrib><creatorcontrib>Wang, Shoulin</creatorcontrib><creatorcontrib>Chen, Feng</creatorcontrib><creatorcontrib>Shen, Hongbing</creatorcontrib><creatorcontrib>Sha, Jiahao</creatorcontrib><creatorcontrib>Hu, Zhibin</creatorcontrib><creatorcontrib>Xia, Yankai</creatorcontrib><creatorcontrib>Wang, Xinru</creatorcontrib><title>Evaluation of five candidate genes from GWAS for association with oligozoospermia in a Han Chinese population</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Oligozoospermia is one of the severe forms of idiopathic male infertility. However, its pathology is largely unknown, and few genetic factors have been defined. Our previous genome-wide association study (GWAS) has identified four risk loci for non-obstructive azoospermia (NOA).
To investigate the potentially functional genetic variants (including not only common variants, but also less-common and rare variants) of these loci on spermatogenic impairment, especially oligozoospermia.
A total of 784 individuals with oligozoospermia and 592 healthy controls were recruited to this study from March 2004 and January 2011.
We conducted a two-stage study to explore the association between oligozoospermia and new makers near NOA risk loci. In the first stage, we used next generation sequencing (NGS) in 96 oligozoospermia cases and 96 healthy controls to screen oligozoospermia-susceptible genetic variants. Next, we validated these variants in a large cohort containing 688 cases and 496 controls by SNPscan for high-throughput Single Nucleotide Polymorphism (SNP) genotyping.
Totally, we observed seven oligozoospermia associated variants (rs3791185 and rs2232015 in PRMT6, rs146039840 and rs11046992 in Sox5, rs1129332 in PEX10, rs3197744 in SIRPA, rs1048055 in SIRPG) in the first stage. In the validation stage, rs3197744 in SIRPA and rs11046992 in Sox5 were associated with increased risk of oligozoospermia with an odds ratio (OR) of 4.62 (P = 0.005, 95%CI 1.58-13.4) and 1.82 (P = 0.005, 95%CI 1.01-1.64), respectively. Further investigation in larger populations and functional characterizations are needed to validate our findings.
Our study provides evidence of independent oligozoospermia risk alleles driven by variants in the potentially functional regions of genes discovered by GWAS. Our findings suggest that integrating sequence data with large-scale genotyping will serve as an effective strategy for discovering risk alleles in the future.</description><subject>Alleles</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Case-Control Studies</subject><subject>Cases (containers)</subject><subject>China</subject><subject>Chromosomes</subject><subject>Education</subject><subject>Epidemiology</subject><subject>Exome</subject><subject>Gene Frequency</subject><subject>Genes</subject><subject>Genetic diversity</subject><subject>Genetic factors</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic variance</subject><subject>Genetic Variation</subject><subject>Genome-wide association studies</subject><subject>Genome-Wide Association Study</subject><subject>Genomes</subject><subject>Genotype</subject><subject>Genotyping</subject><subject>High-Throughput Nucleotide Sequencing</subject><subject>Humans</subject><subject>Infertility</subject><subject>Kinases</subject><subject>Laboratories</subject><subject>Loci</subject><subject>Male</subject><subject>Medicine</subject><subject>MicroRNAs</subject><subject>Oligospermia - genetics</subject><subject>Oligozoospermia</subject><subject>Polymorphism</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Proteins</subject><subject>Public health</subject><subject>Reproductive health</subject><subject>Review boards</subject><subject>Risk</subject><subject>Single-nucleotide polymorphism</subject><subject>Spermatogenesis</subject><subject>Studies</subject><subject>Toxicology</subject><subject>Transcription factors</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><sourceid>DOA</sourceid><recordid>eNp1kk1v1DAQhiMEoqXwDxBY4ryLHX8lF6RqVdpKlTgA4mhN_LHrVZIJdrIV_HrSblq1B04eed7nndHoLYr3jK4Z1-zzHqfUQ7sesPdrSivKtXhRnLKalytVUv7ySX1SvMl5T6nklVKvi5NScMoprU-L7uIA7QRjxJ5gICEePLHQu-hg9GTre59JSNiRy1_n30nARCBntPFI3MZxR7CNW_yLmAefuggk9gTIFfRks4sz7smAw9TeA2-LVwHa7N8t71nx8-vFj83V6ubb5fXm_GZlZanGlQsBHBVOSy-dKhU0WrmmVBVYa13jpNdNw7jVTrhSW2ACFKuYqgWrSrCCnxUfj75Di9ksl8qGCcVqJaksZ8X1UeEQ9mZIsYP0xyBEc_-BaWsgjdG23jRSW0otV0owIQQHXle1rAJY0FzXYfb6skybms476_sxQfvM9HmnjzuzxYPhlWBMytng02KQ8Pfk8_iflcVRZRPmnHx4nMCouYvEA2XuImGWSMzYh6fbPUIPGeD_ALnqtp0</recordid><startdate>20131126</startdate><enddate>20131126</enddate><creator>Xu, Miaofei</creator><creator>Qin, Yufeng</creator><creator>Qu, Jianhua</creator><creator>Lu, Chuncheng</creator><creator>Wang, Ying</creator><creator>Wu, Wei</creator><creator>Song, Ling</creator><creator>Wang, Shoulin</creator><creator>Chen, Feng</creator><creator>Shen, Hongbing</creator><creator>Sha, Jiahao</creator><creator>Hu, Zhibin</creator><creator>Xia, Yankai</creator><creator>Wang, Xinru</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</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>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20131126</creationdate><title>Evaluation of five candidate genes from GWAS for association with oligozoospermia in a Han Chinese population</title><author>Xu, Miaofei ; Qin, Yufeng ; Qu, Jianhua ; Lu, Chuncheng ; Wang, Ying ; Wu, Wei ; Song, Ling ; Wang, Shoulin ; Chen, Feng ; Shen, Hongbing ; Sha, Jiahao ; Hu, Zhibin ; Xia, Yankai ; Wang, Xinru</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c526t-dffad04d75e5d626ab76db268acccdbd5e7bb13c7d4d27ca14a6181694182ac43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Alleles</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Case-Control Studies</topic><topic>Cases (containers)</topic><topic>China</topic><topic>Chromosomes</topic><topic>Education</topic><topic>Epidemiology</topic><topic>Exome</topic><topic>Gene Frequency</topic><topic>Genes</topic><topic>Genetic diversity</topic><topic>Genetic factors</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic variance</topic><topic>Genetic Variation</topic><topic>Genome-wide association studies</topic><topic>Genome-Wide Association Study</topic><topic>Genomes</topic><topic>Genotype</topic><topic>Genotyping</topic><topic>High-Throughput Nucleotide Sequencing</topic><topic>Humans</topic><topic>Infertility</topic><topic>Kinases</topic><topic>Laboratories</topic><topic>Loci</topic><topic>Male</topic><topic>Medicine</topic><topic>MicroRNAs</topic><topic>Oligospermia - genetics</topic><topic>Oligozoospermia</topic><topic>Polymorphism</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Proteins</topic><topic>Public health</topic><topic>Reproductive health</topic><topic>Review boards</topic><topic>Risk</topic><topic>Single-nucleotide polymorphism</topic><topic>Spermatogenesis</topic><topic>Studies</topic><topic>Toxicology</topic><topic>Transcription factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Xu, Miaofei</creatorcontrib><creatorcontrib>Qin, Yufeng</creatorcontrib><creatorcontrib>Qu, Jianhua</creatorcontrib><creatorcontrib>Lu, Chuncheng</creatorcontrib><creatorcontrib>Wang, Ying</creatorcontrib><creatorcontrib>Wu, Wei</creatorcontrib><creatorcontrib>Song, Ling</creatorcontrib><creatorcontrib>Wang, Shoulin</creatorcontrib><creatorcontrib>Chen, Feng</creatorcontrib><creatorcontrib>Shen, Hongbing</creatorcontrib><creatorcontrib>Sha, Jiahao</creatorcontrib><creatorcontrib>Hu, Zhibin</creatorcontrib><creatorcontrib>Xia, Yankai</creatorcontrib><creatorcontrib>Wang, Xinru</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>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Biotechnology Research Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Ecology Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Immunology Abstracts</collection><collection>Meteorological & Geoastrophysical Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Agricultural Science Collection</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology 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>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>Advanced Technologies & Aerospace Collection</collection><collection>Agricultural & Environmental Science Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Materials Science Collection</collection><collection>ProQuest Central Korea</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>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Materials Science Database</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Meteorological & Geoastrophysical Abstracts - 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However, its pathology is largely unknown, and few genetic factors have been defined. Our previous genome-wide association study (GWAS) has identified four risk loci for non-obstructive azoospermia (NOA).
To investigate the potentially functional genetic variants (including not only common variants, but also less-common and rare variants) of these loci on spermatogenic impairment, especially oligozoospermia.
A total of 784 individuals with oligozoospermia and 592 healthy controls were recruited to this study from March 2004 and January 2011.
We conducted a two-stage study to explore the association between oligozoospermia and new makers near NOA risk loci. In the first stage, we used next generation sequencing (NGS) in 96 oligozoospermia cases and 96 healthy controls to screen oligozoospermia-susceptible genetic variants. Next, we validated these variants in a large cohort containing 688 cases and 496 controls by SNPscan for high-throughput Single Nucleotide Polymorphism (SNP) genotyping.
Totally, we observed seven oligozoospermia associated variants (rs3791185 and rs2232015 in PRMT6, rs146039840 and rs11046992 in Sox5, rs1129332 in PEX10, rs3197744 in SIRPA, rs1048055 in SIRPG) in the first stage. In the validation stage, rs3197744 in SIRPA and rs11046992 in Sox5 were associated with increased risk of oligozoospermia with an odds ratio (OR) of 4.62 (P = 0.005, 95%CI 1.58-13.4) and 1.82 (P = 0.005, 95%CI 1.01-1.64), respectively. Further investigation in larger populations and functional characterizations are needed to validate our findings.
Our study provides evidence of independent oligozoospermia risk alleles driven by variants in the potentially functional regions of genes discovered by GWAS. Our findings suggest that integrating sequence data with large-scale genotyping will serve as an effective strategy for discovering risk alleles in the future.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>24303009</pmid><doi>10.1371/journal.pone.0080374</doi><oa>free_for_read</oa></addata></record> |
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| recordid | cdi_plos_journals_1461965052 |
| source | MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Free Full-Text Journals in Chemistry; Public Library of Science (PLoS) |
| subjects | Alleles Asian Continental Ancestry Group - genetics Case-Control Studies Cases (containers) China Chromosomes Education Epidemiology Exome Gene Frequency Genes Genetic diversity Genetic factors Genetic Predisposition to Disease Genetic variance Genetic Variation Genome-wide association studies Genome-Wide Association Study Genomes Genotype Genotyping High-Throughput Nucleotide Sequencing Humans Infertility Kinases Laboratories Loci Male Medicine MicroRNAs Oligospermia - genetics Oligozoospermia Polymorphism Polymorphism, Single Nucleotide Proteins Public health Reproductive health Review boards Risk Single-nucleotide polymorphism Spermatogenesis Studies Toxicology Transcription factors |
| title | Evaluation of five candidate genes from GWAS for association with oligozoospermia in a Han Chinese population |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-31T09%3A43%3A43IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Evaluation%20of%20five%20candidate%20genes%20from%20GWAS%20for%20association%20with%20oligozoospermia%20in%20a%20Han%20Chinese%20population&rft.jtitle=PloS%20one&rft.au=Xu,%20Miaofei&rft.date=2013-11-26&rft.volume=8&rft.issue=11&rft.spage=e80374&rft.pages=e80374-&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0080374&rft_dat=%3Cproquest_plos_%3E3138466511%3C/proquest_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1461965052&rft_id=info:pmid/24303009&rft_doaj_id=oai_doaj_org_article_b57c00c366414443a398958faca7379f&rfr_iscdi=true |