{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,15]],"date-time":"2024-09-15T22:01:41Z","timestamp":1726437701810},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,3,30]],"date-time":"2007-03-30T00:00:00Z","timestamp":1175212800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hepatology Research"],"published-print":{"date-parts":[[2007,4]]},"abstract":"<jats:p><jats:bold>Aims:\u2002<\/jats:bold> Primary biliary cirrhosis (PBC) is a chronic progressive cholestatic disease of unknown pathogenesis. However, several reports have demonstrated the involvement of genetic backgrounds in this syndrome. The aim of this study is to examine the genetic disequilibrium in the HLA region in Japanese patients using six microsatellite markers.<\/jats:p><jats:p><jats:bold>Methods:\u2002<\/jats:bold> Genomic DNAs were obtained from 73 patients with PBC (patient cohort) and 186 healthy volunteers (control cohort). Genetic polymorphisms at six microsatellite markers (D6S1568, DQ.CAR, D6S273, TNF\u2010d, C1\u20102\u2010A, C3\u20102\u201011) were determined using fluorescence\u2010labeled polymerase chain reaction (PCR) genetic analyzer. Allele frequencies were estimated by direct counting and the genotypic differentiation test was performed by the Markov chain method using Genepop software.<\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold> Among these six microsatellite markers, four markers in the patients significantly (<jats:italic>P\u2003<\/jats:italic>&lt;<jats:italic>\u2003<\/jats:italic>0.05) deviated from the Hardy\u2013Weinberg equilibrium: DQ.CAR (<jats:italic>P\u2003<\/jats:italic>=<jats:italic>\u2003<\/jats:italic>0.0278), D6S273 (<jats:italic>P\u2003<\/jats:italic>=<jats:italic>\u2003<\/jats:italic>0.0168), TNF\u2010d (<jats:italic>P\u2003<\/jats:italic>=<jats:italic>\u2003<\/jats:italic>0.0089) and C1\u20102\u2010A (<jats:italic>P\u2003<\/jats:italic>=<jats:italic>\u2003<\/jats:italic>0.0005). Genotypic differentiation test between the patients and controls demonstrated that DQ.CAR (<jats:italic>P\u2003<\/jats:italic>=<jats:italic>\u2003<\/jats:italic>0.0111), TNF\u2010d (<jats:italic>P\u2003<\/jats:italic>=<jats:italic>\u2003<\/jats:italic>0.0051) and C1\u20102\u2010A (<jats:italic>P\u2003<\/jats:italic>=<jats:italic>\u2003<\/jats:italic>0.0371) were significant. Finally, allelic association test revealed before correction for multiple testing demonstrated allele125 of TNF\u2010d (<jats:italic>P\u2003<\/jats:italic>=<jats:italic>\u2003<\/jats:italic>0.00065, <jats:italic>Pc<\/jats:italic>\u2003=\u20030.0052) and allele246 of C1\u20102\u2010A (<jats:italic>P\u2003<\/jats:italic>=<jats:italic>\u2003<\/jats:italic>0.0026 <jats:italic>Pc<\/jats:italic>\u2003=\u20030.033) had significant association after Bonferroni\u2019s correction.<\/jats:p><jats:p><jats:bold>Conclusion:\u2002<\/jats:bold> Disequilibrium mapping using microsatellite markers was a useful method to narrow a disease susceptibility locus. The possible susceptibility gene in the HLA region is thought to be localized around or in the TNF gene. Further studies seem feasible using more closely distributed microsatellite markers or single nucleotide polymorphisms (SNPs) to narrow the susceptibility locus in PBC in Japanese populations.<\/jats:p>","DOI":"10.1111\/j.1872-034x.2007.00031.x","type":"journal-article","created":{"date-parts":[[2007,3,30]],"date-time":"2007-03-30T09:16:28Z","timestamp":1175246188000},"page":"270-275","source":"Crossref","is-referenced-by-count":6,"title":["Mapping of a disease susceptibility locus in the HLA region for Primary Biliary Cirrhosis in Japan"],"prefix":"10.1111","volume":"37","author":[{"given":"Kaichiro","family":"Yahagi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiyuki","family":"Ueno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiki","family":"Nomura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koji","family":"Fukushima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuki","family":"Moritoki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayuki","family":"Kogure","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuhiro","family":"Kojima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenichi","family":"Negoro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshitaka","family":"Kinouchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tooru","family":"Shimosegawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,3,30]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-916319"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gene.6364248"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840180113"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1097\/00042737-199906000-00004"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-3083.1989.tb01200.x"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840160616"},{"key":"e_1_2_6_8_2","doi-asserted-by":"crossref","unstructured":"KinouchiY NegoroK TakagiS TakahashiS ShimosegawaT.Genotype and phenotype relation in inflammatory bowel disease.J Gastroenterol2005;40(Suppl 16): 21\u20134.","DOI":"10.1007\/BF02990574"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gene.6364114"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1086\/341608"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510250507"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.2307\/2532296"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2004.05.005"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510240517"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1053\/he.2000.5764"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.1.216"},{"key":"e_1_2_6_17_2","doi-asserted-by":"crossref","unstructured":"UenoY IshiiM IgarashiTet al.Primary biliary cirrhosis with antibody against carbonic anhydrase II associates with distinct immunological backgrounds.Hepatol Res2001;20: 18\u201327.","DOI":"10.1016\/S1386-6346(00)00128-5"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1053\/he.2000.7050"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1006\/jaut.1999.0299"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(99)80220-7"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(99)80067-1"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(99)80135-4"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1086\/515475"},{"key":"e_1_2_6_24_2","first-page":"356","article-title":"Linkage disequilibrium and haplotype studies of chromosome 8p, 11.1\u201321.1 markers and Werner syndrome","volume":"55","author":"Yu CE","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.12.1363"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0039.2003.00007.x"},{"key":"e_1_2_6_27_2","doi-asserted-by":"publisher","DOI":"10.1086\/302364"},{"key":"e_1_2_6_28_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6371"},{"key":"e_1_2_6_29_2","doi-asserted-by":"crossref","unstructured":"SherlockS DooleyJ.Primary biliary cirrhosis. In: Sherlock S Dooley J ed.Diseases of the Liver and Biliary System. London: Blackwell Science Ltd 2002; 241\u2013251.","DOI":"10.1002\/9780470986820.ch14"},{"key":"e_1_2_6_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(00)80213-5"},{"key":"e_1_2_6_31_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.177.2.557"}],"container-title":["Hepatology Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1872-034X.2007.00031.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1872-034X.2007.00031.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T20:06:07Z","timestamp":1696968367000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1872-034X.2007.00031.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,3,30]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2007,4]]}},"alternative-id":["10.1111\/j.1872-034X.2007.00031.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1872-034x.2007.00031.x","archive":["Portico"],"relation":{},"ISSN":["1386-6346","1872-034X"],"issn-type":[{"type":"print","value":"1386-6346"},{"type":"electronic","value":"1872-034X"}],"subject":[],"published":{"date-parts":[[2007,3,30]]}}}