{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T11:32:23Z","timestamp":1777116743206,"version":"3.51.4"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T00:00:00Z","timestamp":1677024000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["2019\/33\/B\/NZ9\/00654"],"award-info":[{"award-number":["2019\/33\/B\/NZ9\/00654"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Umbilical hernia (UH) is one of the most prevalent defects of swine, affecting their welfare and causing considerable economic loss. The molecular mechanisms behind UH in pigs remain poorly understood. The aim of this study was to verify the association between UH and previously reported DNA variants in the<jats:italic>CAPN9<\/jats:italic>,<jats:italic>OSM<\/jats:italic>,<jats:italic>ITGAM<\/jats:italic>, and<jats:italic>NUGGC<\/jats:italic>genes. A case\/control study design was applied in two different crossbred cohorts of commercial fatteners containing 412 and 171 pigs, respectively. SNPs within<jats:italic>CAPN9<\/jats:italic>,<jats:italic>OSM<\/jats:italic>, and<jats:italic>ITGAM<\/jats:italic>were analyzed using Sanger sequencing, and 10 SNPs in<jats:italic>CAPN9<\/jats:italic>, five in<jats:italic>OSM<\/jats:italic>, and two in<jats:italic>ITGAM<\/jats:italic>were identified<jats:italic>.<\/jats:italic>A structural variant in the<jats:italic>NUGGC<\/jats:italic>gene was studied by droplet\u2010digital PCR, and an elevated copy number was detected in only a single individual. Significant differences in allele frequencies for four SNPs in<jats:italic>CAPN9<\/jats:italic>were detected. The haplotype analysis showed the effect on the risk of UH for two genes. The CAGGA haplotype within<jats:italic>OSM<\/jats:italic>and AT haplotype in<jats:italic>ITGAM<\/jats:italic>reduced the relative risk of UH by 52% and 45%, respectively, confirming that variants in those genes are associated with the risk of UH in pigs. Moreover, the interaction between the<jats:italic>CAPN9<\/jats:italic>haplotype and the sex of animals had also significant impact on UH risk.<\/jats:p>","DOI":"10.1111\/age.13307","type":"journal-article","created":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T08:06:53Z","timestamp":1677053213000},"page":"307-314","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A confirmed association between<scp>DNA<\/scp>variants in<scp><i>CAPN9<\/i><\/scp>,<scp><i>OSM<\/i><\/scp>, and<scp><i>ITGAM<\/i><\/scp>candidate genes and the risk of umbilical hernia in pigs"],"prefix":"10.1111","volume":"54","author":[{"given":"J.","family":"Wozniak","sequence":"first","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Loba","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Iskrzak","sequence":"additional","affiliation":[{"name":"AgriPlus, LLC Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Pszczola","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Wojtczak","sequence":"additional","affiliation":[{"name":"Department of Animal Breeding and Product Quality Assesment Poznan University of Life Sciences Suchy Las Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2539-9508","authenticated-orcid":false,"given":"M.","family":"Switonski","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Nowacka\u2010Woszuk","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,2,22]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.2307\/2346101"},{"key":"e_1_2_11_3_1","volume-title":"Umbilical hernia. StatPearls [internet]","author":"Coste A.H.","year":"2021"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.2527\/jas.2008\u20101601"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.foodchem.2014.10.138"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102156\u20107\u201025"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12864\u2010018\u20104812\u20109"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/rda.13845"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M116.763912"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/vetsci5010015"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.12760"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.12402"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.livsci.2020.104317"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/vr.162.12.377"},{"key":"e_1_2_11_15_1","volume-title":"R: a language and environment for statistical computing","author":"R Core Team","year":"2021"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12020166"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12864\u2010021\u201008138\u20104"},{"key":"e_1_2_11_18_1","doi-asserted-by":"crossref","first-page":"1660","DOI":"10.2460\/javma.1994.204.10.1660","article-title":"Effects of and factors associated with umbilical hernias in a swine herd","volume":"204","author":"Searcy\u2010Bernal R.","year":"1994","journal-title":"Journal of the American Veterinary Medical Association"},{"key":"e_1_2_11_19_1","unstructured":"Sinnwell J.P.&Schaid D.J.(2021)Haplo.Stats: statistical analysis of haplotypes with traits and covariates when linkage phase is ambiguous. R package version 1.8.7.https:\/\/CRAN.R\u2010project.org\/package=haplo.stats"},{"key":"e_1_2_11_20_1","first-page":"527","volume-title":"Doen\u00e7as dos Su\u00ednos","author":"Sobestiansky J.","year":"2007"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0232542"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1080\/03008207.2018.1500558"},{"key":"e_1_2_11_23_1","doi-asserted-by":"crossref","first-page":"28","DOI":"10.54846\/jshap\/578","article-title":"Anatomical abnormalities in a group of finishing pigs: prevalence and pig performance","volume":"17","author":"Straw B.","year":"2009","journal-title":"Journal of Swine Health and Production"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1439\u20100388.1996.tb00593.x"},{"key":"e_1_2_11_25_1","unstructured":"Walters R.(2016)PigProgress\u2014Genetic defects in pigs and how to deal with them. [cited March 29 2020].https:\/\/www.pigprogress.net\/pigs\/genetic\u2010defects\u2010in\u2010pigs\u2010and\u2010how\u2010to\u2010deal\u2010with\u2010them\/"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.13307","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/age.13307","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.13307","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,14]],"date-time":"2024-10-14T21:29:08Z","timestamp":1728941348000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.13307"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,22]]},"references-count":24,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1111\/age.13307"],"URL":"https:\/\/doi.org\/10.1111\/age.13307","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,22]]},"assertion":[{"value":"2022-01-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}