{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T20:49:22Z","timestamp":1780433362193,"version":"3.54.1"},"reference-count":50,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,4,20]],"date-time":"2021-04-20T00:00:00Z","timestamp":1618876800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004837","name":"Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"publisher","award":["FIS\u2010ISCIII DTS18\/00101"],"award-info":[{"award-number":["FIS\u2010ISCIII DTS18\/00101"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Andrology"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Severe spermatogenic failure (SpF) represents the most extreme manifestation of male infertility, as it decreases drastically the semen quality leading to either severe oligospermia (SO, &lt;5 million spermatozoa\/mL semen) or non\u2010obstructive azoospermia (NOA, complete lack of spermatozoa in the ejaculate without obstructive causes).<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>The main objective of the present study is to analyze in the Iberian population the effect of 6 single\u2010nucleotide polymorphisms (SNPs) previously associated with NOA in Han Chinese through genome\u2010wide association studies (GWAS) and to establish their possible functional relevance in the development of specific SpF patterns.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and methods<\/jats:title><jats:p>We genotyped 674 Iberian infertile men (including 480 NOA and 194 SO patients) and 1058 matched unaffected controls for the GWAS\u2010associated variants <jats:italic>PRMT6<\/jats:italic>\u2010rs12097821, <jats:italic>PEX10<\/jats:italic>\u2010rs2477686, <jats:italic>CDC42BPA<\/jats:italic>\u2010rs3000811, <jats:italic>IL17A<\/jats:italic>\u2010rs13206743, <jats:italic>ABLIM1<\/jats:italic>\u2010rs7099208, and <jats:italic>SOX5<\/jats:italic>\u2010rs10842262. Their association with SpF, SO, NOA, and different NOA phenotypes was evaluated by logistic regression models, and their functional relevance was defined by comprehensive interrogation of public resources.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:italic>ABLIM1<\/jats:italic>\u2010rs7099208 was associated with SpF under both additive (OR\u00a0=\u00a00.86, <jats:italic>p\u00a0<\/jats:italic>=\u00a00.036) and dominant models (OR\u00a0=\u00a00.78, <jats:italic>p\u00a0<\/jats:italic>=\u00a00.026). The <jats:italic>CDC42BPA<\/jats:italic>\u2010rs3000811 minor allele frequency was significantly increased in the subgroup of NOA patients showing maturation arrest (MA) of germ cells compared to the remaining NOA cases under the recessive model (OR\u00a0=\u00a04.45, <jats:italic>p\u00a0<\/jats:italic>=\u00a00.044). The <jats:italic>PEX10<\/jats:italic>\u2010rs2477686 SNP was associated with a negative testicular sperm extraction (TESE) outcome under the additive model (OR\u00a0=\u00a01.32, <jats:italic>p\u00a0<\/jats:italic>=\u00a00.034). The analysis of functional annotations suggested that these variants affect the testis\u2010specific expression of nearby genes and that lincRNA may play a role in SpF.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our data support the association of three previously reported NOA risk variants in Asians (<jats:italic>ABLIM1<\/jats:italic>\u2010rs7099208, <jats:italic>CDC42BPA<\/jats:italic>\u2010rs3000811, and <jats:italic>PEX10<\/jats:italic>\u2010rs2477686) with different manifestations of SpF in Iberians of European descent, likely by influencing gene expression and lincRNA deregulation.<\/jats:p><\/jats:sec>","DOI":"10.1111\/andr.13009","type":"journal-article","created":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T16:15:59Z","timestamp":1617120959000},"page":"1151-1165","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort"],"prefix":"10.1111","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6033-0587","authenticated-orcid":false,"given":"Miriam","family":"Cerv\u00e1n\u2010Mart\u00edn","sequence":"first","affiliation":[{"name":"Departamento de Gen\u00e9tica e Instituto de Biotecnolog\u00eda Universidad de Granada Granada Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs.GRANADA Granada Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5471-5824","authenticated-orcid":false,"given":"Lara","family":"Bossini\u2010Castillo","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Instituto de Biotecnolog\u00eda Universidad de Granada Granada Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs.GRANADA Granada 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