{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T00:45:21Z","timestamp":1791938721543,"version":"4.3.4"},"reference-count":42,"publisher":"Cambridge University Press (CUP)","issue":"6","license":[{"start":{"date-parts":[[2017,11,7]],"date-time":"2017-11-07T00:00:00Z","timestamp":1510012800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Twin Res Hum Genet"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:p>\n                    Acne vulgaris is a skin disease with a multifactorial and complex pathology. While several twin studies have estimated that acne has a heritability of up to 80%, the genomic elements responsible for the origin and pathology of acne are still undiscovered. Here we performed a twin-based structural equation model, using available data on acne severity for an Australian sample of 4,491 twins and their siblings aged from 10 to 24. This study extends by a factor of 3 an earlier analysis of the genetic factors of acne. Acne severity was rated by nurses on a 4-point scale (1 =\n                    <jats:italic>absent<\/jats:italic>\n                    to 4 =\n                    <jats:italic>severe<\/jats:italic>\n                    ) on up to three body sites (face, back, chest) and on up to three occasions (age 12, 14, and 16). The phenotype that we analyzed was the most severe rating at any site or age. The polychoric correlation for monozygotic twins was higher (\n                    <jats:italic>r<\/jats:italic>\n                    <jats:sub>MZ<\/jats:sub>\n                    = 0.86, 95% CI [0.81, 0.90]) than for dizygotic twins (\n                    <jats:italic>r<\/jats:italic>\n                    <jats:sub>DZ<\/jats:sub>\n                    = 0.42, 95% CI [0.35, 0.47]). A model that includes additive genetic effects and unique environmental effects was the most parsimonious model to explain the genetic variance of acne severity, and the estimated heritability was 0.85 (95% CI [0.82, 0.87]). We then conducted a genome-wide analysis including an additional 271 siblings \u2014 for a total of 4,762 individuals. A genome-wide association study (GWAS) scan did not detect loci associated with the severity of acne at the threshold of 5E-08 but suggestive association was found for three SNPs: rs10515088 locus 5q13.1 (\n                    <jats:italic>p<\/jats:italic>\n                    = 3.9E-07), rs12738078 locus 1p35.5 (\n                    <jats:italic>p<\/jats:italic>\n                    = 6.7E-07), and rs117943429 locus 18q21.2 (\n                    <jats:italic>p<\/jats:italic>\n                    = 9.1E-07). The 5q13.1 locus is close to\n                    <jats:italic>PIK3R1<\/jats:italic>\n                    , a gene that has a potential regulatory effect on sebocyte differentiation.\n                  <\/jats:p>","DOI":"10.1017\/thg.2017.58","type":"journal-article","created":{"date-parts":[[2017,11,7]],"date-time":"2017-11-07T05:48:53Z","timestamp":1510033733000},"page":"541-549","source":"Crossref","is-referenced-by-count":28,"title":["Heritability and GWAS Analyses of Acne in Australian Adolescent Twins"],"prefix":"10.1017","volume":"20","author":[{"given":"Angela","family":"Mina-Vargas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luc\u00eda","family":"Colodro-Conde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrina","family":"Grasby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gu","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Gordon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah E.","family":"Medland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas G.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2017,11,7]]},"reference":[{"key":"S1832427417000585_ref018","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.14385"},{"key":"S1832427417000585_ref013","doi-asserted-by":"publisher","DOI":"10.1017\/S0001566000005948"},{"key":"S1832427417000585_ref019","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1976.tb05162.x"},{"key":"S1832427417000585_ref006","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2002.19621.x"},{"key":"S1832427417000585_ref004","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2011.11.001"},{"key":"S1832427417000585_ref001","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"key":"S1832427417000585_ref003","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2011.06.984"},{"key":"S1832427417000585_ref026","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2009.00924.x"},{"key":"S1832427417000585_ref028","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms5020"},{"key":"S1832427417000585_ref008","doi-asserted-by":"publisher","DOI":"10.1007\/s11336-010-9200-6"},{"key":"S1832427417000585_ref015","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.264"},{"key":"S1832427417000585_ref029","volume-title":"Methodology for genetic studies of twins and families","author":"Neale","year":"2013"},{"key":"S1832427417000585_ref005","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2011.04444.x"},{"key":"S1832427417000585_ref032","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/3.2.119"},{"key":"S1832427417000585_ref024","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.10.009"},{"key":"S1832427417000585_ref017","doi-asserted-by":"publisher","DOI":"10.1016\/j.clindermatol.2016.10.004"},{"key":"S1832427417000585_ref011","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.06387.x"},{"key":"S1832427417000585_ref021","doi-asserted-by":"publisher","DOI":"10.2147\/AHMT.S55832"},{"key":"S1832427417000585_ref025","first-page":"105","article-title":"FoxO1 - The key for the pathogenesis and therapy of acne","volume":"8","author":"Melnik","year":"2010","journal-title":"Journal of the German Society of Dermatology"},{"key":"S1832427417000585_ref022","doi-asserted-by":"publisher","DOI":"10.1093\/fampra\/cmh715"},{"key":"S1832427417000585_ref009","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12606"},{"key":"S1832427417000585_ref027","doi-asserted-by":"publisher","DOI":"10.1017\/thg.2014.79"},{"key":"S1832427417000585_ref012","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu367"},{"key":"S1832427417000585_ref030","doi-asserted-by":"publisher","DOI":"10.1159\/000017855"},{"key":"S1832427417000585_ref031","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq419"},{"key":"S1832427417000585_ref034","doi-asserted-by":"publisher","DOI":"10.1007\/s00403-010-1050-7"},{"key":"S1832427417000585_ref035","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13462"},{"key":"S1832427417000585_ref036","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2011.04299.x"},{"key":"S1832427417000585_ref037","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1988.tb02433.x"},{"key":"S1832427417000585_ref038","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12754"},{"key":"S1832427417000585_ref039","unstructured":"WHO. (2015). International statistical classification of diseases and related health problems (ICD). Retrieved from http:\/\/www.who.int\/classifications\/icd\/en\/."},{"key":"S1832427417000585_ref040","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(11)60321-8"},{"key":"S1832427417000585_ref010","doi-asserted-by":"crossref","first-page":"1","DOI":"10.5070\/D34HP8N68P","article-title":"Acne in adolescents: Quality of life, self-esteem, mood and psychological disorders","volume":"17","author":"Dunn","year":"2011","journal-title":"Dermatology Online Journal"},{"key":"S1832427417000585_ref033","doi-asserted-by":"publisher","DOI":"10.1177\/120347549800300103"},{"key":"S1832427417000585_ref042","doi-asserted-by":"publisher","DOI":"10.1159\/000202983"},{"key":"S1832427417000585_ref043","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1374-4"},{"key":"S1832427417000585_ref002","doi-asserted-by":"publisher","DOI":"10.1007\/BF02294359"},{"key":"S1832427417000585_ref007","unstructured":"Boker S. M. , Neale M. C. , Maes H. H. , Wilde M. J. , Spiegel M. , Brick T. R. , .\u00a0.\u00a0. Kirkpatrick R. M. (2016). OpenMx user guide release 2.6.7. Retrieved from http:\/\/openmx.psyc.virginia.edu\/docs\/OpenMx\/latest\/OpenMxUserGuide.pdf."},{"key":"S1832427417000585_ref020","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.06.009"},{"key":"S1832427417000585_ref016","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms3870"},{"key":"S1832427417000585_ref014","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1999.02979.x"},{"key":"S1832427417000585_ref041","doi-asserted-by":"publisher","DOI":"10.1080\/00049530410001734865"}],"container-title":["Twin Research and Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1832427417000585","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,6]],"date-time":"2022-08-06T12:54:00Z","timestamp":1659790440000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1832427417000585\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,7]]},"references-count":42,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["S1832427417000585"],"URL":"https:\/\/doi.org\/10.1017\/thg.2017.58","relation":{},"ISSN":["1832-4274","1839-2628"],"issn-type":[{"value":"1832-4274","type":"print"},{"value":"1839-2628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11,7]]}}}