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SNPs in ERCC1, ERCC2, and XRCC1 genes of the DNA repair pathway and risk of male infertility in the Asian populations: association study, meta-analysis, and trial sequential analysis
Purpose We investigated if substitutions in the ERCC1 , ERCC2 , and XRCC1 genes of the DNA repair pathway correlate with non-obstructive azoospermia and male infertility. Methods A total of 548 azoospermic infertile males and 410 fertile controls were genotyped for XRCC1 399A > G, 280G > A, an...
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| Published in: | Journal of assisted reproduction and genetics 2019-01, Vol.36 (1), p.79-90 |
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| container_title | Journal of assisted reproduction and genetics |
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| creator | Singh, Vertika Bansal, Sandeep Kumar Sudhakar, D. V. S. Neelabh Chakraborty, Arijit Trivedi, Sameer Gupta, Gopal Thangaraj, Kumarasamy Rajender, Singh Singh, Kiran |
| description | Purpose
We investigated if substitutions in the
ERCC1
,
ERCC2
, and
XRCC1
genes of the DNA repair pathway correlate with non-obstructive azoospermia and male infertility.
Methods
A total of 548 azoospermic infertile males and 410 fertile controls were genotyped for
XRCC1
399A > G, 280G > A, and
ERCC1
C > A 3′ UTR and 541 azoospermic infertile males and 416 fertile controls were genotyped for
ERCC2
751A > C using iPLEX Gold Assay. Meta-analyses were performed on
XRCC1
399A > G (1022 cases and 1004 controls),
ERCC1
C > A 3′ UTR (879 cases and 1059 controls), and
ERCC2
751A > C (914 cases and 850 controls) polymorphisms to quantitatively estimate the significance of the association between these polymorphisms and the risk of infertility.
Results
Statistically significant association between
ERCC2
751A > C SNP and male infertility was found using the codominant model (
p
= 0.03). Results of meta-analysis suggested a lack of correlation with male infertility risk, which could be due to pooling of studies from different ethnic populations. Due to limited the number of studies, a stratified analysis for different ethnic groups could not be performed.
Conclusion (s)
In conclusion, AA genotype of 751A > C SNP in
ERCC2
correlated with a higher risk of male infertility and may contribute to an increased risk of azoospermia and male infertility in Indian men. |
| doi_str_mv | 10.1007/s10815-018-1339-6 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6338593</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2129534800</sourcerecordid><originalsourceid>FETCH-LOGICAL-c470t-b390fae6a6d535b08caa585e3dc9968a6b5a7710e280cb47869c67fbd966639a3</originalsourceid><addsrcrecordid>eNp1ksuO1DAQRSMEYoaGD2CDLLFh0QE7TmyHBVKrGR7SaEA8JHZWJXG6PaTj4HJA-TG-D6czMzwkVi67Tl3fkm6SPGT0KaNUPkNGFStSylTKOC9TcSs5ZYXkqeSc3o41LVRKc6FOknuIl5TSUmX8bnLCKS8pk_I0-fnx4j0S25OzD9stWx-PbE2gb8iX-YXsTG-QuJaEvSEvLzbEmwGsJwOE_Q-YjqS3-HVGDtCZqNUaH2xnwzTrzmMbtNCTwQ1jB8G6Hp8TQHS1Pd4IhrGZ1uRgAqTQQzehxcVC8BY6gubbaPowl9ft-8mdFjo0D67OVfL51dmn7Zv0_N3rt9vNeVrnkoa0imu2YASIpuBFRVUNUKjC8KYuS6FAVAVIyajJFK2rXCpR1kK2VVMKIXgJfJW8WHSHsTqYpo42PHR68PYAftIOrP6709u93rnvWnCuipJHgSdXAt7FLTDog8XadB30xo2oM5aVBc8VpRF9_A966UYfFz5SiotcZDPFFqr2DtGb9sYMo3pOhV5SoWMq9JyKaGWVPPpzi5uJ6xhEIFsAjK1-Z_zvr_-v-gujT8Nh</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2128364620</pqid></control><display><type>article</type><title>SNPs in ERCC1, ERCC2, and XRCC1 genes of the DNA repair pathway and risk of male infertility in the Asian populations: association study, meta-analysis, and trial sequential analysis</title><source>Springer Nature</source><source>PubMed Central</source><creator>Singh, Vertika ; Bansal, Sandeep Kumar ; Sudhakar, D. V. S. ; Neelabh ; Chakraborty, Arijit ; Trivedi, Sameer ; Gupta, Gopal ; Thangaraj, Kumarasamy ; Rajender, Singh ; Singh, Kiran</creator><creatorcontrib>Singh, Vertika ; Bansal, Sandeep Kumar ; Sudhakar, D. V. S. ; Neelabh ; Chakraborty, Arijit ; Trivedi, Sameer ; Gupta, Gopal ; Thangaraj, Kumarasamy ; Rajender, Singh ; Singh, Kiran</creatorcontrib><description>Purpose
We investigated if substitutions in the
ERCC1
,
ERCC2
, and
XRCC1
genes of the DNA repair pathway correlate with non-obstructive azoospermia and male infertility.
Methods
A total of 548 azoospermic infertile males and 410 fertile controls were genotyped for
XRCC1
399A > G, 280G > A, and
ERCC1
C > A 3′ UTR and 541 azoospermic infertile males and 416 fertile controls were genotyped for
ERCC2
751A > C using iPLEX Gold Assay. Meta-analyses were performed on
XRCC1
399A > G (1022 cases and 1004 controls),
ERCC1
C > A 3′ UTR (879 cases and 1059 controls), and
ERCC2
751A > C (914 cases and 850 controls) polymorphisms to quantitatively estimate the significance of the association between these polymorphisms and the risk of infertility.
Results
Statistically significant association between
ERCC2
751A > C SNP and male infertility was found using the codominant model (
p
= 0.03). Results of meta-analysis suggested a lack of correlation with male infertility risk, which could be due to pooling of studies from different ethnic populations. Due to limited the number of studies, a stratified analysis for different ethnic groups could not be performed.
Conclusion (s)
In conclusion, AA genotype of 751A > C SNP in
ERCC2
correlated with a higher risk of male infertility and may contribute to an increased risk of azoospermia and male infertility in Indian men.</description><identifier>ISSN: 1058-0468</identifier><identifier>EISSN: 1573-7330</identifier><identifier>DOI: 10.1007/s10815-018-1339-6</identifier><identifier>PMID: 30390177</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>3' Untranslated regions ; Asia - epidemiology ; Asians - genetics ; Case-Control Studies ; DNA Repair ; DNA-Binding Proteins - genetics ; Endonucleases - genetics ; ERCC1 protein ; Genetics ; Gynecology ; Human Genetics ; Humans ; Infertility ; Infertility, Male - epidemiology ; Infertility, Male - genetics ; Infertility, Male - pathology ; Male ; Males ; Medicine ; Medicine & Public Health ; Meta-analysis ; Minority & ethnic groups ; Polymorphism, Single Nucleotide ; Population studies ; Reproductive Medicine ; Single-nucleotide polymorphism ; Statistical analysis ; X-ray Repair Cross Complementing Protein 1 - genetics ; Xeroderma Pigmentosum Group D Protein - genetics ; XRCC1 protein</subject><ispartof>Journal of assisted reproduction and genetics, 2019-01, Vol.36 (1), p.79-90</ispartof><rights>Springer Science+Business Media, LLC, part of Springer Nature 2018</rights><rights>Journal of Assisted Reproduction and Genetics is a copyright of Springer, (2018). All Rights Reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c470t-b390fae6a6d535b08caa585e3dc9968a6b5a7710e280cb47869c67fbd966639a3</citedby><cites>FETCH-LOGICAL-c470t-b390fae6a6d535b08caa585e3dc9968a6b5a7710e280cb47869c67fbd966639a3</cites><orcidid>0000-0002-2592-6534</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338593/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338593/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27922,27923,53789,53791</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30390177$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Singh, Vertika</creatorcontrib><creatorcontrib>Bansal, Sandeep Kumar</creatorcontrib><creatorcontrib>Sudhakar, D. V. S.</creatorcontrib><creatorcontrib>Neelabh</creatorcontrib><creatorcontrib>Chakraborty, Arijit</creatorcontrib><creatorcontrib>Trivedi, Sameer</creatorcontrib><creatorcontrib>Gupta, Gopal</creatorcontrib><creatorcontrib>Thangaraj, Kumarasamy</creatorcontrib><creatorcontrib>Rajender, Singh</creatorcontrib><creatorcontrib>Singh, Kiran</creatorcontrib><title>SNPs in ERCC1, ERCC2, and XRCC1 genes of the DNA repair pathway and risk of male infertility in the Asian populations: association study, meta-analysis, and trial sequential analysis</title><title>Journal of assisted reproduction and genetics</title><addtitle>J Assist Reprod Genet</addtitle><addtitle>J Assist Reprod Genet</addtitle><description>Purpose
We investigated if substitutions in the
ERCC1
,
ERCC2
, and
XRCC1
genes of the DNA repair pathway correlate with non-obstructive azoospermia and male infertility.
Methods
A total of 548 azoospermic infertile males and 410 fertile controls were genotyped for
XRCC1
399A > G, 280G > A, and
ERCC1
C > A 3′ UTR and 541 azoospermic infertile males and 416 fertile controls were genotyped for
ERCC2
751A > C using iPLEX Gold Assay. Meta-analyses were performed on
XRCC1
399A > G (1022 cases and 1004 controls),
ERCC1
C > A 3′ UTR (879 cases and 1059 controls), and
ERCC2
751A > C (914 cases and 850 controls) polymorphisms to quantitatively estimate the significance of the association between these polymorphisms and the risk of infertility.
Results
Statistically significant association between
ERCC2
751A > C SNP and male infertility was found using the codominant model (
p
= 0.03). Results of meta-analysis suggested a lack of correlation with male infertility risk, which could be due to pooling of studies from different ethnic populations. Due to limited the number of studies, a stratified analysis for different ethnic groups could not be performed.
Conclusion (s)
In conclusion, AA genotype of 751A > C SNP in
ERCC2
correlated with a higher risk of male infertility and may contribute to an increased risk of azoospermia and male infertility in Indian men.</description><subject>3' Untranslated regions</subject><subject>Asia - epidemiology</subject><subject>Asians - genetics</subject><subject>Case-Control Studies</subject><subject>DNA Repair</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Endonucleases - genetics</subject><subject>ERCC1 protein</subject><subject>Genetics</subject><subject>Gynecology</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Infertility</subject><subject>Infertility, Male - epidemiology</subject><subject>Infertility, Male - genetics</subject><subject>Infertility, Male - pathology</subject><subject>Male</subject><subject>Males</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Meta-analysis</subject><subject>Minority & ethnic groups</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population studies</subject><subject>Reproductive Medicine</subject><subject>Single-nucleotide polymorphism</subject><subject>Statistical analysis</subject><subject>X-ray Repair Cross Complementing Protein 1 - genetics</subject><subject>Xeroderma Pigmentosum Group D Protein - genetics</subject><subject>XRCC1 protein</subject><issn>1058-0468</issn><issn>1573-7330</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><recordid>eNp1ksuO1DAQRSMEYoaGD2CDLLFh0QE7TmyHBVKrGR7SaEA8JHZWJXG6PaTj4HJA-TG-D6czMzwkVi67Tl3fkm6SPGT0KaNUPkNGFStSylTKOC9TcSs5ZYXkqeSc3o41LVRKc6FOknuIl5TSUmX8bnLCKS8pk_I0-fnx4j0S25OzD9stWx-PbE2gb8iX-YXsTG-QuJaEvSEvLzbEmwGsJwOE_Q-YjqS3-HVGDtCZqNUaH2xnwzTrzmMbtNCTwQ1jB8G6Hp8TQHS1Pd4IhrGZ1uRgAqTQQzehxcVC8BY6gubbaPowl9ft-8mdFjo0D67OVfL51dmn7Zv0_N3rt9vNeVrnkoa0imu2YASIpuBFRVUNUKjC8KYuS6FAVAVIyajJFK2rXCpR1kK2VVMKIXgJfJW8WHSHsTqYpo42PHR68PYAftIOrP6709u93rnvWnCuipJHgSdXAt7FLTDog8XadB30xo2oM5aVBc8VpRF9_A966UYfFz5SiotcZDPFFqr2DtGb9sYMo3pOhV5SoWMq9JyKaGWVPPpzi5uJ6xhEIFsAjK1-Z_zvr_-v-gujT8Nh</recordid><startdate>20190101</startdate><enddate>20190101</enddate><creator>Singh, Vertika</creator><creator>Bansal, Sandeep Kumar</creator><creator>Sudhakar, D. V. S.</creator><creator>Neelabh</creator><creator>Chakraborty, Arijit</creator><creator>Trivedi, Sameer</creator><creator>Gupta, Gopal</creator><creator>Thangaraj, Kumarasamy</creator><creator>Rajender, Singh</creator><creator>Singh, Kiran</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>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-2592-6534</orcidid></search><sort><creationdate>20190101</creationdate><title>SNPs in ERCC1, ERCC2, and XRCC1 genes of the DNA repair pathway and risk of male infertility in the Asian populations: association study, meta-analysis, and trial sequential analysis</title><author>Singh, Vertika ; Bansal, Sandeep Kumar ; Sudhakar, D. V. S. ; Neelabh ; Chakraborty, Arijit ; Trivedi, Sameer ; Gupta, Gopal ; Thangaraj, Kumarasamy ; Rajender, Singh ; Singh, Kiran</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c470t-b390fae6a6d535b08caa585e3dc9968a6b5a7710e280cb47869c67fbd966639a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>3' Untranslated regions</topic><topic>Asia - epidemiology</topic><topic>Asians - genetics</topic><topic>Case-Control Studies</topic><topic>DNA Repair</topic><topic>DNA-Binding Proteins - genetics</topic><topic>Endonucleases - genetics</topic><topic>ERCC1 protein</topic><topic>Genetics</topic><topic>Gynecology</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Infertility</topic><topic>Infertility, Male - epidemiology</topic><topic>Infertility, Male - genetics</topic><topic>Infertility, Male - pathology</topic><topic>Male</topic><topic>Males</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Meta-analysis</topic><topic>Minority & ethnic groups</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Population studies</topic><topic>Reproductive Medicine</topic><topic>Single-nucleotide polymorphism</topic><topic>Statistical analysis</topic><topic>X-ray Repair Cross Complementing Protein 1 - genetics</topic><topic>Xeroderma Pigmentosum Group D Protein - genetics</topic><topic>XRCC1 protein</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Singh, Vertika</creatorcontrib><creatorcontrib>Bansal, Sandeep Kumar</creatorcontrib><creatorcontrib>Sudhakar, D. V. S.</creatorcontrib><creatorcontrib>Neelabh</creatorcontrib><creatorcontrib>Chakraborty, Arijit</creatorcontrib><creatorcontrib>Trivedi, Sameer</creatorcontrib><creatorcontrib>Gupta, Gopal</creatorcontrib><creatorcontrib>Thangaraj, Kumarasamy</creatorcontrib><creatorcontrib>Rajender, Singh</creatorcontrib><creatorcontrib>Singh, Kiran</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>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</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>AUTh Library subscriptions: 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 (Proquest) (PQ_SDU_P3)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</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>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>Singh, Vertika</au><au>Bansal, Sandeep Kumar</au><au>Sudhakar, D. V. S.</au><au>Neelabh</au><au>Chakraborty, Arijit</au><au>Trivedi, Sameer</au><au>Gupta, Gopal</au><au>Thangaraj, Kumarasamy</au><au>Rajender, Singh</au><au>Singh, Kiran</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>SNPs in ERCC1, ERCC2, and XRCC1 genes of the DNA repair pathway and risk of male infertility in the Asian populations: association study, meta-analysis, and trial sequential analysis</atitle><jtitle>Journal of assisted reproduction and genetics</jtitle><stitle>J Assist Reprod Genet</stitle><addtitle>J Assist Reprod Genet</addtitle><date>2019-01-01</date><risdate>2019</risdate><volume>36</volume><issue>1</issue><spage>79</spage><epage>90</epage><pages>79-90</pages><issn>1058-0468</issn><eissn>1573-7330</eissn><abstract>Purpose
We investigated if substitutions in the
ERCC1
,
ERCC2
, and
XRCC1
genes of the DNA repair pathway correlate with non-obstructive azoospermia and male infertility.
Methods
A total of 548 azoospermic infertile males and 410 fertile controls were genotyped for
XRCC1
399A > G, 280G > A, and
ERCC1
C > A 3′ UTR and 541 azoospermic infertile males and 416 fertile controls were genotyped for
ERCC2
751A > C using iPLEX Gold Assay. Meta-analyses were performed on
XRCC1
399A > G (1022 cases and 1004 controls),
ERCC1
C > A 3′ UTR (879 cases and 1059 controls), and
ERCC2
751A > C (914 cases and 850 controls) polymorphisms to quantitatively estimate the significance of the association between these polymorphisms and the risk of infertility.
Results
Statistically significant association between
ERCC2
751A > C SNP and male infertility was found using the codominant model (
p
= 0.03). Results of meta-analysis suggested a lack of correlation with male infertility risk, which could be due to pooling of studies from different ethnic populations. Due to limited the number of studies, a stratified analysis for different ethnic groups could not be performed.
Conclusion (s)
In conclusion, AA genotype of 751A > C SNP in
ERCC2
correlated with a higher risk of male infertility and may contribute to an increased risk of azoospermia and male infertility in Indian men.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>30390177</pmid><doi>10.1007/s10815-018-1339-6</doi><tpages>12</tpages><orcidid>https://orcid.org/0000-0002-2592-6534</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1058-0468 |
| ispartof | Journal of assisted reproduction and genetics, 2019-01, Vol.36 (1), p.79-90 |
| issn | 1058-0468 1573-7330 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6338593 |
| source | Springer Nature; PubMed Central |
| subjects | 3' Untranslated regions Asia - epidemiology Asians - genetics Case-Control Studies DNA Repair DNA-Binding Proteins - genetics Endonucleases - genetics ERCC1 protein Genetics Gynecology Human Genetics Humans Infertility Infertility, Male - epidemiology Infertility, Male - genetics Infertility, Male - pathology Male Males Medicine Medicine & Public Health Meta-analysis Minority & ethnic groups Polymorphism, Single Nucleotide Population studies Reproductive Medicine Single-nucleotide polymorphism Statistical analysis X-ray Repair Cross Complementing Protein 1 - genetics Xeroderma Pigmentosum Group D Protein - genetics XRCC1 protein |
| title | SNPs in ERCC1, ERCC2, and XRCC1 genes of the DNA repair pathway and risk of male infertility in the Asian populations: association study, meta-analysis, and trial sequential analysis |
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