{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T02:30:33Z","timestamp":1774924233301,"version":"3.50.1"},"reference-count":31,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2008,2]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Adolescent idiopathic scoliosis (AIS) is the most common form of spinal deformity, affecting up to 4% of children worldwide. Familial inheritance of AIS is now recognised and several potential candidate loci have been found.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>We studied 25 multi-generation AIS families of British descent with at least 3 affected members in each family. A genomewide screen was performed using microsatellite markers spanning approximately 10-cM intervals throughout the genome. This analysis revealed linkage to several candidate chromosomal regions throughout the genome. Two-point linkage analysis was performed in all families to evaluate candidate loci. After identification of candidate loci, two-point linkage analysis was performed in the 10 families that segregated, to further refine disease intervals.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>Significant linkage was obtained in a total of 10 families: 8 families to the telomeric region of chromosome 9q, and 2 families to the telomeric region of 17q. A significant LOD score was detected at marker D9S2157 Z<jats:sub>max<\/jats:sub> \u200a=\u200a3.64 (\u03b8\u200a=\u200a0.0) in a four-generation family (SC32). Saturation mapping of the 9q region in family SC32 defined the critical disease interval to be flanked by markers D9S930 and D9S1818, spanning approximately 21 Mb at 9q31.2-q34.2. In addition, seven other families segregated with this locus on 9q. In two multi-generation families (SC36 and SC23) not segregating with the 9q locus, a maximum combined LOD score of Z<jats:sub>max<\/jats:sub>\u200a=\u200a4.08 (\u03b8\u200a=\u200a0.0) was obtained for marker AAT095 on 17q. Fine mapping of the 17q candidate region defined the AIS critical region to be distal to marker D17S1806, spanning approximately 3.2 Mb on chromosome 17q25.3-qtel.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion:<\/jats:title>\n                  <jats:p>This study reports a common locus for AIS in the British population, mapping to a refined interval on chromosome 9q31.2-q34.2 and defines a novel AIS locus on chromosome 17q25.3-qtel.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2007.051896","type":"journal-article","created":{"date-parts":[[2007,10,12]],"date-time":"2007-10-12T16:03:57Z","timestamp":1192205037000},"page":"87-92","source":"Crossref","is-referenced-by-count":62,"title":["Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel"],"prefix":"10.1136","volume":"45","author":[{"given":"L","family":"Ocaka","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Reed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N D","family":"Ebenezer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Brice","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Morley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Mehta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"O\u2019Dowd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J L","family":"Weber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A J","family":"Hardcastle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A H","family":"Child","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2007,10,11]]},"reference":[{"key":"2025100520360278000_45.2.87.1","unstructured":"Weinstein SL . The thoracolumbar spine. In: Weinstein SL Buckwalter JA , eds. Turek\u00e2\u0080\u0099s orthopaedics: principles and their application, 5th ed. Philadelphia: JP Lippincott Company, 1994:447\u00e2\u0080\u009385."},{"key":"2025100520360278000_45.2.87.2","first-page":"261","article-title":"Outline for the study of scoliosis.","volume":"5","author":"Cobb","year":"1948","journal-title":"American Academy of Orthopaedic Surgeons Instructional Course Lectures"},{"key":"2025100520360278000_45.2.87.3","first-page":"111","article-title":"Adolescent idiopathic scoliosis: review and current concepts.","volume":"64","author":"Reamy","year":"2001","journal-title":"Am Fam Physicians"},{"key":"2025100520360278000_45.2.87.4","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1097\/00003086-198804000-00014","article-title":"Current theories on the etiology of idiopathic scoliosis.","volume":"229","author":"Byrd","year":"1988","journal-title":"Clin Orthop Relat Res"},{"key":"2025100520360278000_45.2.87.5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550126"},{"key":"2025100520360278000_45.2.87.6","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991008)86:4<389::AID-AJMG15>3.0.CO;2-D"},{"key":"2025100520360278000_45.2.87.7","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.2106\/00004623-200008000-00014","article-title":"Etiology of idiopathic scoliosis: current trends in research.","volume":"82A","author":"Lowe","year":"2000","journal-title":"J Bone Joint Surg Am"},{"key":"2025100520360278000_45.2.87.8","doi-asserted-by":"crossref","unstructured":"Miller NH Sponseller PD Bell J . Genomic search for X-linkage in familial adolescent idiopathic scoliosis. In: Research into Spinal Deformities 2. Stokes IAF , ed. Amsterdam: IOS Press, 1999 :209\u00e2\u0080\u009313.","DOI":"10.3233\/978-1-60750-903-5-209"},{"key":"2025100520360278000_45.2.87.9","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-200303150-00014"},{"key":"2025100520360278000_45.2.87.10","doi-asserted-by":"crossref","unstructured":"Child A Aubry M Brice G Park E Putnam E Milewicz D . The role of fibrillin-1 and fibrillin-2 in severe scoliosis. In: Research into spinal deformities 1. Stokes IAF , ed. IOS Press, 1999 :213\u00e2\u0080\u009315.","DOI":"10.3233\/978-1-60750-903-5-213"},{"key":"2025100520360278000_45.2.87.11","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1302\/0301-620X.50B1.24","article-title":"Familial (idiopathic) scoliosis. A family survey.","volume":"50","author":"Wynne-Davies","year":"1968","journal-title":"J Bone Joint Surg Br"},{"key":"2025100520360278000_45.2.87.12","doi-asserted-by":"crossref","first-page":"974","DOI":"10.2106\/00004623-197355050-00006","article-title":"A genetic survey of idiopathic scoliosis in Boston, Massachusetts.","volume":"55A","author":"Riseborough","year":"1973","journal-title":"J Bone Joint Surg"},{"key":"2025100520360278000_45.2.87.13","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-200009150-00017"},{"key":"2025100520360278000_45.2.87.14","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0785-4"},{"key":"2025100520360278000_45.2.87.15","doi-asserted-by":"publisher","DOI":"10.1086\/341607"},{"key":"2025100520360278000_45.2.87.16","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1121-y"},{"key":"2025100520360278000_45.2.87.17","doi-asserted-by":"publisher","DOI":"10.1097\/01.brs.0000162282.46160.0a"},{"key":"2025100520360278000_45.2.87.18","doi-asserted-by":"publisher","DOI":"10.1097\/01.brs.0000227264.23603.dc"},{"key":"2025100520360278000_45.2.87.19","doi-asserted-by":"publisher","DOI":"10.1186\/1748-7161-1-21"},{"key":"2025100520360278000_45.2.87.20","doi-asserted-by":"publisher","DOI":"10.1086\/513571"},{"key":"2025100520360278000_45.2.87.21","unstructured":"Adams W . Lectures on pathology and treatment of lateral and other forms of curvature of the spine. London: Churchill Livingstone, 1865."},{"key":"2025100520360278000_45.2.87.22","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1179\/acb.2003.58.1.001","article-title":"Genetic fibrillinopathies: new insights in molecular diagnosis and clinical management.","volume":"58","author":"Loeys","year":"2003","journal-title":"Acta Clin Belg"},{"key":"2025100520360278000_45.2.87.23","doi-asserted-by":"crossref","unstructured":"Weber JL Broman KW . Genotyping for human whole genome scans: past, present and future. In: Advance in Genetics, v., eds. Academic Press, 2001 :77\u00e2\u0080\u009396.","DOI":"10.1016\/S0065-2660(01)42016-5"},{"key":"2025100520360278000_45.2.87.24","first-page":"259","article-title":"Pedcheck: A program for identification of genotype incompatibility in linkage analysis.","volume":"63","author":"O\u00e2\u0080\u0099Connell","year":"1998","journal-title":"Am J Med Genet"},{"key":"2025100520360278000_45.2.87.25","first-page":"460","article-title":"Easy calculations of LOD scores and genetic risks in small computers.","volume":"36","author":"Lathrop","year":"1984","journal-title":"Am J Hum Genet"},{"key":"2025100520360278000_45.2.87.26","first-page":"1347","article-title":"Parametric and nonparametric linkage analysis: a unified multipoint approach.","volume":"58","author":"Kruglyak","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2025100520360278000_45.2.87.27","doi-asserted-by":"publisher","DOI":"10.1038\/ng786"},{"key":"2025100520360278000_45.2.87.28","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/gepi.1370030739","article-title":"Linkage probability and its approximate confidence interval under possible heterogeneity.","volume":"1","author":"Ott","year":"1986","journal-title":"Genet Epidemiol Suppl"},{"key":"2025100520360278000_45.2.87.29","doi-asserted-by":"publisher","DOI":"10.1086\/302011"},{"key":"2025100520360278000_45.2.87.30","doi-asserted-by":"publisher","DOI":"10.1038\/ng0302-241"},{"key":"2025100520360278000_45.2.87.31","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(03)00049-1"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2007.051896","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:36:12Z","timestamp":1759721772000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2007.051896"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10,11]]},"references-count":31,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2008,2,1]]},"published-print":{"date-parts":[[2008,2]]}},"alternative-id":["10.1136\/jmg.2007.051896"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2007.051896","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,10,11]]}}}