{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:19:59Z","timestamp":1747196399113,"version":"3.40.5"},"reference-count":15,"publisher":"Public Library of Science (PLoS)","issue":"8","license":[{"start":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T00:00:00Z","timestamp":1691625600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>In genetic diseases with variable age of onset, an accurate estimation of the survival function for the mutation carriers and also modifying factors effects estimations are important for the management of asymptomatic gene carriers across life. Among the modifying factors, the gender of the parent transmitting the mutation (i.e. the parent-of-origin effect) has been shown to have a significant effect on survival curve estimation on transthyretin familial amyloid polyneuropathy (ATTRv) families. However, as most genotypes are unknown, the parent-of-origin must be calculated through a probability estimated from the pedigree. We propose in this article to extend the method providing mutation carrier survival estimates in order to estimate the parent-of-origin effect. The method is both validated on simulated data and applied to familly samples with ATTRv.<\/jats:p>","DOI":"10.1371\/journal.pone.0288958","type":"journal-article","created":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T17:41:34Z","timestamp":1691689294000},"page":"e0288958","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":2,"title":["Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv"],"prefix":"10.1371","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6427-4201","authenticated-orcid":true,"given":"Flora","family":"Alarcon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Violaine","family":"Plant\u00e9-Bordeneuve","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gr\u00e9gory","family":"Nuel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2023,8,10]]},"reference":[{"issue":"9","key":"pone.0288958.ref001","doi-asserted-by":"crossref","first-page":"e0203860","DOI":"10.1371\/journal.pone.0203860","article-title":"Non-parametric estimation of survival in age-dependent genetic disease and application to the transthyretin-related hereditary amyloidosis","volume":"13","author":"F Alarcon","year":"2018","journal-title":"PloS one"},{"issue":"5","key":"pone.0288958.ref002","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1097\/00019052-200010000-00011","article-title":"Transthyretin related familial amyloid polyneuropathy","volume":"13","author":"V Plant\u00e9-Bordeneuve","year":"2000","journal-title":"Current opinion in neurology"},{"issue":"5","key":"pone.0288958.ref003","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1111\/j.1365-2796.1994.tb01106.x","article-title":"Malnutrition and gastrointestinal dysfunction as prognostic factors for survival in familial amyloidotic polyneuropathy","volume":"235","author":"O Suhr","year":"1994","journal-title":"Journal of internal medicine"},{"issue":"3","key":"pone.0288958.ref004","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1080\/13506120802193720","article-title":"Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population","volume":"15","author":"U Hellman","year":"2008","journal-title":"Amyloid"},{"key":"pone.0288958.ref005","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1136\/jmg.31.5.351","article-title":"Geographical distribution of TTR met 30 carriers in northern Sweden","volume":"31","author":"G Holmgren","year":"1994","journal-title":"J Med Genetic"},{"key":"pone.0288958.ref006","first-page":"1","article-title":"New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden","author":"F Gorram","year":"2020","journal-title":"Amyloid"},{"key":"pone.0288958.ref007","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/ajmg.1320600606","article-title":"Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-Type I in Povoa do Varzim and Vila do Conde (North of Portugal)","volume":"60","author":"A Sousa","year":"1995","journal-title":"Am J Med Genet (Neuropsych Genet)"},{"issue":"5","key":"pone.0288958.ref008","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1136\/jmg.30.5.388","article-title":"Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis","volume":"30","author":"U Drugge","year":"1993","journal-title":"Journal of Medical Genetics"},{"issue":"3-4","key":"pone.0288958.ref009","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1159\/000490553","article-title":"Epidemiology of transthyretin familial amyloid polyneuropathy in Portugal: a nationwide study","volume":"51","author":"M Ines","year":"2018","journal-title":"Neuroepidemiology"},{"issue":"3","key":"pone.0288958.ref010","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1080\/13506120903093944","article-title":"Parent-of-origin effect in transthyretin related amyloid polyneuropathy","volume":"16","author":"B Bona\u00efti","year":"2009","journal-title":"Amyloid"},{"issue":"11","key":"pone.0288958.ref011","doi-asserted-by":"crossref","first-page":"e120","DOI":"10.1136\/jmg.40.11.e120","article-title":"Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families","volume":"40","author":"V Plante-Bordeneuve","year":"2003","journal-title":"J Med Genet"},{"issue":"6","key":"pone.0288958.ref012","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1159\/000152448","article-title":"A general model for the genetic analysis of pedigree data","volume":"21","author":"RC Elston","year":"1971","journal-title":"Human Heredity"},{"issue":"1","key":"pone.0288958.ref013","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1297-9686-41-52","article-title":"An efficient algorithm to compute marginal posterior genotype probabilities for every member of a pedigree with loops","volume":"41","author":"LR Totir","year":"2009","journal-title":"Genetics Selection Evolution"},{"issue":"3","key":"pone.0288958.ref014","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1136\/jnnp-2013-305383","article-title":"Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M","volume":"85","author":"C Lemos","year":"2014","journal-title":"Journal of Neurology, Neurosurgery & Psychiatry"},{"issue":"2","key":"pone.0288958.ref015","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1080\/13506129.2020.1841623","article-title":"New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden","volume":"28","author":"F Gorram","year":"2021","journal-title":"Amyloid"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0288958","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T17:41:57Z","timestamp":1691689317000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0288958"}},"subtitle":[],"editor":[{"given":"Nejat","family":"Mahdieh","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2023,8,10]]},"references-count":15,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2023,8,10]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0288958","relation":{},"ISSN":["1932-6203"],"issn-type":[{"type":"electronic","value":"1932-6203"}],"subject":[],"published":{"date-parts":[[2023,8,10]]}}}