Association study between single-nucleotide variants rs12097821, rs2477686, and rs10842262 and idiopathic male infertility risk in Serbian population with meta-analysis
Purpose A genome-wide association study conducted in the Han Chinese population identified three single nucleotide variants rs12097821, rs2477686, and rs10842262 as being significantly associated with non-obstructive azoospermia. Our aim was to evaluate the possible association between these suscept...
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| Veröffentlicht in: | Journal of assisted reproduction and genetics 2020-11, Vol.37 (11), p.2839-2852 |
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| creator | Nemanja, Vucic Zorana, Dobrijevic Nevena, Kotarac Suzana, Matijasevic Ivan, Vukovic Branko, Budimirovic Mirka, Djordjevic Dusanka, Savic-Pavicevic Goran, Brajuskovic |
| description | Purpose
A genome-wide association study conducted in the Han Chinese population identified three single nucleotide variants rs12097821, rs2477686, and rs10842262 as being significantly associated with non-obstructive azoospermia. Our aim was to evaluate the possible association between these susceptibility loci and idiopathic male infertility risk in the Serbian population.
Methods
A case-control study was conducted on 431 male individuals from the Serbian population divided into two groups. The case group consisted of 208 males diagnosed with oligoasthenozoospermia or non-obstructive azoospermia, while the control group involved 223 fertile men who have fathered at least one child.
Results
According to codominant (
P
codom
= 0.048, OR
codom
= 0.57, 95%CI 0.35–0.92) and overdominant (
P
overdom
= 0.017, OR
overdom
= 0.62, 95%CI 0.42–0.92) genetic models, rs10842262 was found to be associated with male infertility. Stratifying infertile men according to diagnosis yielded statistically significant results for non-obstructive azoospermia cases under multiple genetic models (
P
codom
= 0.038, OR
codom
= 0.47, 95%CI 0.26–0.85;
P
dom
= 0.031, OR
dom
= 0.53, 95%CI 0.30–0.94; P
overdom
= 0.016, OR
overdom
= 0.55, 95%CI 0.33–0.90). Minor allele C of rs2477686 genetic variant was shown to be associated with the reduced risk of oligoasthenozoospermia under the log-additive genetic model (
P
= 0.03, OR = 0.69, 95%CI 0.50–0.97). The results of the meta-analysis indicate both rs2477686 and rs10842262 to be associated with male infertility.
Conclusion
Our results show variants rs2477686 and rs10842262 to be significantly associated with male infertility in the Serbian population. Nevertheless, case-control studies in other populations are needed to validate their association with infertility in males diagnosed with oligoasthenozoospermia and non-obstructive azoospermia. |
| doi_str_mv | 10.1007/s10815-020-01920-5 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7642064</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2471449221</sourcerecordid><originalsourceid>FETCH-LOGICAL-c451t-7e280f1e94eca651e9c8cf76e84738dac5d39a76bb22dae6325938154a3ccb8c3</originalsourceid><addsrcrecordid>eNp9Ustu1TAUjBCIlsIPsLLEhkUDftvZIFVVeUiVWABry3FO7nVJ7GA7re4f8Zn4NhUIFmzsOT4zo3OsaZqXBL8hGKu3mWBNRIspbjHp6ikeNadEKNYqxvDjirHQLeZSnzTPcr7BGHeasqfNCaNVWD1Om58XOUfnbfExoFzW4YB6KHcAtfJhN0EbVjdBLH4AdGuTt6FklDKhuFOakvOKKVdKanmObBiOLaw5pZLel37wcbFl7x2a7QTIhxFS8ZMvB5R8_l4f0BdIffVFS1zWaZvkzpc9mqHY1gY7HbLPz5sno50yvHi4z5pv76--Xn5srz9_-HR5cd06LkhpFVCNRwIdB2elqMBpNyoJmiumB-vEwDqrZN9TOliQjIqO1c_gljnXa8fOmneb77L2MwwOQkl2Mkvys00HE603f3eC35tdvDVKcoolrwavHwxS_LFCLmb22cE02QBxzYZyJpQQkuBKffUP9SauqS58ZCnCeUcpqSy6sVyKOScYfw9DsDkGwWxBMDUI5j4IRlQR20S5ksMO0h_r_6h-AVLbtXw</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2471449221</pqid></control><display><type>article</type><title>Association study between single-nucleotide variants rs12097821, rs2477686, and rs10842262 and idiopathic male infertility risk in Serbian population with meta-analysis</title><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><source>SpringerLink Journals - AutoHoldings</source><creator>Nemanja, Vucic ; Zorana, Dobrijevic ; Nevena, Kotarac ; Suzana, Matijasevic ; Ivan, Vukovic ; Branko, Budimirovic ; Mirka, Djordjevic ; Dusanka, Savic-Pavicevic ; Goran, Brajuskovic</creator><creatorcontrib>Nemanja, Vucic ; Zorana, Dobrijevic ; Nevena, Kotarac ; Suzana, Matijasevic ; Ivan, Vukovic ; Branko, Budimirovic ; Mirka, Djordjevic ; Dusanka, Savic-Pavicevic ; Goran, Brajuskovic</creatorcontrib><description>Purpose
A genome-wide association study conducted in the Han Chinese population identified three single nucleotide variants rs12097821, rs2477686, and rs10842262 as being significantly associated with non-obstructive azoospermia. Our aim was to evaluate the possible association between these susceptibility loci and idiopathic male infertility risk in the Serbian population.
Methods
A case-control study was conducted on 431 male individuals from the Serbian population divided into two groups. The case group consisted of 208 males diagnosed with oligoasthenozoospermia or non-obstructive azoospermia, while the control group involved 223 fertile men who have fathered at least one child.
Results
According to codominant (
P
codom
= 0.048, OR
codom
= 0.57, 95%CI 0.35–0.92) and overdominant (
P
overdom
= 0.017, OR
overdom
= 0.62, 95%CI 0.42–0.92) genetic models, rs10842262 was found to be associated with male infertility. Stratifying infertile men according to diagnosis yielded statistically significant results for non-obstructive azoospermia cases under multiple genetic models (
P
codom
= 0.038, OR
codom
= 0.47, 95%CI 0.26–0.85;
P
dom
= 0.031, OR
dom
= 0.53, 95%CI 0.30–0.94; P
overdom
= 0.016, OR
overdom
= 0.55, 95%CI 0.33–0.90). Minor allele C of rs2477686 genetic variant was shown to be associated with the reduced risk of oligoasthenozoospermia under the log-additive genetic model (
P
= 0.03, OR = 0.69, 95%CI 0.50–0.97). The results of the meta-analysis indicate both rs2477686 and rs10842262 to be associated with male infertility.
Conclusion
Our results show variants rs2477686 and rs10842262 to be significantly associated with male infertility in the Serbian population. Nevertheless, case-control studies in other populations are needed to validate their association with infertility in males diagnosed with oligoasthenozoospermia and non-obstructive azoospermia.</description><identifier>ISSN: 1058-0468</identifier><identifier>EISSN: 1573-7330</identifier><identifier>DOI: 10.1007/s10815-020-01920-5</identifier><identifier>PMID: 32815100</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Genetic diversity ; Genetics ; Genome-wide association studies ; Genomes ; Gynecology ; Human Genetics ; Infertility ; Males ; Medicine ; Medicine & Public Health ; Meta-analysis ; Population ; Population studies ; Reproductive Medicine ; Statistical analysis</subject><ispartof>Journal of assisted reproduction and genetics, 2020-11, Vol.37 (11), p.2839-2852</ispartof><rights>Springer Science+Business Media, LLC, part of Springer Nature 2020</rights><rights>Springer Science+Business Media, LLC, part of Springer Nature 2020.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c451t-7e280f1e94eca651e9c8cf76e84738dac5d39a76bb22dae6325938154a3ccb8c3</citedby><cites>FETCH-LOGICAL-c451t-7e280f1e94eca651e9c8cf76e84738dac5d39a76bb22dae6325938154a3ccb8c3</cites><orcidid>0000-0002-3935-6755</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/PMC7642064/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7642064/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,725,778,782,883,27907,27908,41471,42540,51302,53774,53776</link.rule.ids></links><search><creatorcontrib>Nemanja, Vucic</creatorcontrib><creatorcontrib>Zorana, Dobrijevic</creatorcontrib><creatorcontrib>Nevena, Kotarac</creatorcontrib><creatorcontrib>Suzana, Matijasevic</creatorcontrib><creatorcontrib>Ivan, Vukovic</creatorcontrib><creatorcontrib>Branko, Budimirovic</creatorcontrib><creatorcontrib>Mirka, Djordjevic</creatorcontrib><creatorcontrib>Dusanka, Savic-Pavicevic</creatorcontrib><creatorcontrib>Goran, Brajuskovic</creatorcontrib><title>Association study between single-nucleotide variants rs12097821, rs2477686, and rs10842262 and idiopathic male infertility risk in Serbian population with meta-analysis</title><title>Journal of assisted reproduction and genetics</title><addtitle>J Assist Reprod Genet</addtitle><description>Purpose
A genome-wide association study conducted in the Han Chinese population identified three single nucleotide variants rs12097821, rs2477686, and rs10842262 as being significantly associated with non-obstructive azoospermia. Our aim was to evaluate the possible association between these susceptibility loci and idiopathic male infertility risk in the Serbian population.
Methods
A case-control study was conducted on 431 male individuals from the Serbian population divided into two groups. The case group consisted of 208 males diagnosed with oligoasthenozoospermia or non-obstructive azoospermia, while the control group involved 223 fertile men who have fathered at least one child.
Results
According to codominant (
P
codom
= 0.048, OR
codom
= 0.57, 95%CI 0.35–0.92) and overdominant (
P
overdom
= 0.017, OR
overdom
= 0.62, 95%CI 0.42–0.92) genetic models, rs10842262 was found to be associated with male infertility. Stratifying infertile men according to diagnosis yielded statistically significant results for non-obstructive azoospermia cases under multiple genetic models (
P
codom
= 0.038, OR
codom
= 0.47, 95%CI 0.26–0.85;
P
dom
= 0.031, OR
dom
= 0.53, 95%CI 0.30–0.94; P
overdom
= 0.016, OR
overdom
= 0.55, 95%CI 0.33–0.90). Minor allele C of rs2477686 genetic variant was shown to be associated with the reduced risk of oligoasthenozoospermia under the log-additive genetic model (
P
= 0.03, OR = 0.69, 95%CI 0.50–0.97). The results of the meta-analysis indicate both rs2477686 and rs10842262 to be associated with male infertility.
Conclusion
Our results show variants rs2477686 and rs10842262 to be significantly associated with male infertility in the Serbian population. Nevertheless, case-control studies in other populations are needed to validate their association with infertility in males diagnosed with oligoasthenozoospermia and non-obstructive azoospermia.</description><subject>Genetic diversity</subject><subject>Genetics</subject><subject>Genome-wide association studies</subject><subject>Genomes</subject><subject>Gynecology</subject><subject>Human Genetics</subject><subject>Infertility</subject><subject>Males</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Meta-analysis</subject><subject>Population</subject><subject>Population studies</subject><subject>Reproductive Medicine</subject><subject>Statistical analysis</subject><issn>1058-0468</issn><issn>1573-7330</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9Ustu1TAUjBCIlsIPsLLEhkUDftvZIFVVeUiVWABry3FO7nVJ7GA7re4f8Zn4NhUIFmzsOT4zo3OsaZqXBL8hGKu3mWBNRIspbjHp6ikeNadEKNYqxvDjirHQLeZSnzTPcr7BGHeasqfNCaNVWD1Om58XOUfnbfExoFzW4YB6KHcAtfJhN0EbVjdBLH4AdGuTt6FklDKhuFOakvOKKVdKanmObBiOLaw5pZLel37wcbFl7x2a7QTIhxFS8ZMvB5R8_l4f0BdIffVFS1zWaZvkzpc9mqHY1gY7HbLPz5sno50yvHi4z5pv76--Xn5srz9_-HR5cd06LkhpFVCNRwIdB2elqMBpNyoJmiumB-vEwDqrZN9TOliQjIqO1c_gljnXa8fOmneb77L2MwwOQkl2Mkvys00HE603f3eC35tdvDVKcoolrwavHwxS_LFCLmb22cE02QBxzYZyJpQQkuBKffUP9SauqS58ZCnCeUcpqSy6sVyKOScYfw9DsDkGwWxBMDUI5j4IRlQR20S5ksMO0h_r_6h-AVLbtXw</recordid><startdate>20201101</startdate><enddate>20201101</enddate><creator>Nemanja, Vucic</creator><creator>Zorana, Dobrijevic</creator><creator>Nevena, Kotarac</creator><creator>Suzana, Matijasevic</creator><creator>Ivan, Vukovic</creator><creator>Branko, Budimirovic</creator><creator>Mirka, Djordjevic</creator><creator>Dusanka, Savic-Pavicevic</creator><creator>Goran, Brajuskovic</creator><general>Springer US</general><general>Springer Nature B.V</general><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><orcidid>https://orcid.org/0000-0002-3935-6755</orcidid></search><sort><creationdate>20201101</creationdate><title>Association study between single-nucleotide variants rs12097821, rs2477686, and rs10842262 and idiopathic male infertility risk in Serbian population with meta-analysis</title><author>Nemanja, Vucic ; Zorana, Dobrijevic ; Nevena, Kotarac ; Suzana, Matijasevic ; Ivan, Vukovic ; Branko, Budimirovic ; Mirka, Djordjevic ; Dusanka, Savic-Pavicevic ; Goran, Brajuskovic</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c451t-7e280f1e94eca651e9c8cf76e84738dac5d39a76bb22dae6325938154a3ccb8c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Genetic diversity</topic><topic>Genetics</topic><topic>Genome-wide association studies</topic><topic>Genomes</topic><topic>Gynecology</topic><topic>Human Genetics</topic><topic>Infertility</topic><topic>Males</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Meta-analysis</topic><topic>Population</topic><topic>Population studies</topic><topic>Reproductive Medicine</topic><topic>Statistical analysis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nemanja, Vucic</creatorcontrib><creatorcontrib>Zorana, Dobrijevic</creatorcontrib><creatorcontrib>Nevena, Kotarac</creatorcontrib><creatorcontrib>Suzana, Matijasevic</creatorcontrib><creatorcontrib>Ivan, Vukovic</creatorcontrib><creatorcontrib>Branko, Budimirovic</creatorcontrib><creatorcontrib>Mirka, Djordjevic</creatorcontrib><creatorcontrib>Dusanka, Savic-Pavicevic</creatorcontrib><creatorcontrib>Goran, Brajuskovic</creatorcontrib><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</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 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 Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</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>SciTech Premium Collection</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>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>Nemanja, Vucic</au><au>Zorana, Dobrijevic</au><au>Nevena, Kotarac</au><au>Suzana, Matijasevic</au><au>Ivan, Vukovic</au><au>Branko, Budimirovic</au><au>Mirka, Djordjevic</au><au>Dusanka, Savic-Pavicevic</au><au>Goran, Brajuskovic</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association study between single-nucleotide variants rs12097821, rs2477686, and rs10842262 and idiopathic male infertility risk in Serbian population with meta-analysis</atitle><jtitle>Journal of assisted reproduction and genetics</jtitle><stitle>J Assist Reprod Genet</stitle><date>2020-11-01</date><risdate>2020</risdate><volume>37</volume><issue>11</issue><spage>2839</spage><epage>2852</epage><pages>2839-2852</pages><issn>1058-0468</issn><eissn>1573-7330</eissn><abstract>Purpose
A genome-wide association study conducted in the Han Chinese population identified three single nucleotide variants rs12097821, rs2477686, and rs10842262 as being significantly associated with non-obstructive azoospermia. Our aim was to evaluate the possible association between these susceptibility loci and idiopathic male infertility risk in the Serbian population.
Methods
A case-control study was conducted on 431 male individuals from the Serbian population divided into two groups. The case group consisted of 208 males diagnosed with oligoasthenozoospermia or non-obstructive azoospermia, while the control group involved 223 fertile men who have fathered at least one child.
Results
According to codominant (
P
codom
= 0.048, OR
codom
= 0.57, 95%CI 0.35–0.92) and overdominant (
P
overdom
= 0.017, OR
overdom
= 0.62, 95%CI 0.42–0.92) genetic models, rs10842262 was found to be associated with male infertility. Stratifying infertile men according to diagnosis yielded statistically significant results for non-obstructive azoospermia cases under multiple genetic models (
P
codom
= 0.038, OR
codom
= 0.47, 95%CI 0.26–0.85;
P
dom
= 0.031, OR
dom
= 0.53, 95%CI 0.30–0.94; P
overdom
= 0.016, OR
overdom
= 0.55, 95%CI 0.33–0.90). Minor allele C of rs2477686 genetic variant was shown to be associated with the reduced risk of oligoasthenozoospermia under the log-additive genetic model (
P
= 0.03, OR = 0.69, 95%CI 0.50–0.97). The results of the meta-analysis indicate both rs2477686 and rs10842262 to be associated with male infertility.
Conclusion
Our results show variants rs2477686 and rs10842262 to be significantly associated with male infertility in the Serbian population. Nevertheless, case-control studies in other populations are needed to validate their association with infertility in males diagnosed with oligoasthenozoospermia and non-obstructive azoospermia.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>32815100</pmid><doi>10.1007/s10815-020-01920-5</doi><tpages>14</tpages><orcidid>https://orcid.org/0000-0002-3935-6755</orcidid><oa>free_for_read</oa></addata></record> |
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| source | EZB-FREE-00999 freely available EZB journals; PubMed Central; SpringerLink Journals - AutoHoldings |
| subjects | Genetic diversity Genetics Genome-wide association studies Genomes Gynecology Human Genetics Infertility Males Medicine Medicine & Public Health Meta-analysis Population Population studies Reproductive Medicine Statistical analysis |
| title | Association study between single-nucleotide variants rs12097821, rs2477686, and rs10842262 and idiopathic male infertility risk in Serbian population with meta-analysis |
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