{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T23:48:00Z","timestamp":1792799280784,"version":"4.5.0"},"reference-count":29,"publisher":"Wiley","license":[{"start":{"date-parts":[[2019,7,29]],"date-time":"2019-07-29T00:00:00Z","timestamp":1564358400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["LY18H160027"],"award-info":[{"award-number":["LY18H160027"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["2018ZB105"],"award-info":[{"award-number":["2018ZB105"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Chinese Medical Science and Technology Planning Project of Zhejiang Province","award":["LY18H160027"],"award-info":[{"award-number":["LY18H160027"]}]},{"name":"Chinese Medical Science and Technology Planning Project of Zhejiang Province","award":["2018ZB105"],"award-info":[{"award-number":["2018ZB105"]}]},{"name":"Affiliated Hospital of Hangzhou Normal University","award":["LY18H160027"],"award-info":[{"award-number":["LY18H160027"]}],"id":[{"id":"https:\/\/ror.org\/01bkvqx83","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Affiliated Hospital of Hangzhou Normal University","award":["2018ZB105"],"award-info":[{"award-number":["2018ZB105"]}],"id":[{"id":"https:\/\/ror.org\/01bkvqx83","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2019,7,29]]},"abstract":"\n Objective<\/jats:italic>\n . The spectrum of\n UDP-glucuronyl transferase A1<\/jats:italic>\n (\n UGT1A1<\/jats:italic>\n ) variants in hereditary unconjugated hyperbilirubinemia varies markedly between different ethnic populations. This study evaluated the\n UGT1A1<\/jats:italic>\n genotypes in hyperbilirubinemia patients from southeastern China.\n Methods<\/jats:italic>\n . We enrolled 60 patients from southeastern China (44 men and 16 women; age range: 3\u201376 years) with unconjugated hyperbilirubinemia and performed genetic analysis of the\n UGT1A1<\/jats:italic>\n gene by direct sequencing.\n Results<\/jats:italic>\n . For patients with Gilbert syndrome, 85% (47\/55) harbored pathogenic variants of\n UGT1A1<\/jats:italic>\n \n \n \u204e<\/mml:mo>\n <\/mml:mrow>\n <\/mml:math>\n 60<\/jats:italic>\n . Both\n UGT1A1<\/jats:italic>\n \n \n \u204e<\/mml:mo>\n <\/mml:mrow>\n <\/mml:math>\n 28<\/jats:italic>\n and\n UGT1A1<\/jats:italic>\n \n \n \u204e<\/mml:mo>\n <\/mml:mrow>\n <\/mml:math>\n 81<\/jats:italic>\n were detected in the promoter region of\n UGT1A1<\/jats:italic>\n . Additionally, 83% (20\/24) of patients with Gilbert syndrome heterozygous for\n UGT1A1<\/jats:italic>\n \n \n \u204e<\/mml:mo>\n <\/mml:mrow>\n <\/mml:math>\n 60<\/jats:italic>\n had an association with heterozygous variation of\n UGT1A1<\/jats:italic>\n \n \n \u204e<\/mml:mo>\n <\/mml:mrow>\n <\/mml:math>\n 28<\/jats:italic>\n or\n UGT1A1<\/jats:italic>\n \n \n \u204e<\/mml:mo>\n <\/mml:mrow>\n <\/mml:math>\n 81<\/jats:italic>\n , while 91% (21\/23) of Gilbert syndrome patients homozygous for\n UGT1A1<\/jats:italic>\n \n \n \u204e<\/mml:mo>\n <\/mml:mrow>\n <\/mml:math>\n 60<\/jats:italic>\n had biallelic variations of\n UGT1A1<\/jats:italic>\n \n \n \u204e<\/mml:mo>\n <\/mml:mrow>\n <\/mml:math>\n 28<\/jats:italic>\n and\n UGT1A1<\/jats:italic>\n \n \n \u204e<\/mml:mo>\n <\/mml:mrow>\n <\/mml:math>\n 81<\/jats:italic>\n . We detected 213\n UGT1A1<\/jats:italic>\n allelic variants, including six novel variations, with the most frequent allele being the\n UGT1A1<\/jats:italic>\n \n \n \u204e<\/mml:mo>\n <\/mml:mrow>\n <\/mml:math>\n 60<\/jats:italic>\n , followed by\n UGT1A1<\/jats:italic>\n \n \n \u204e<\/mml:mo>\n <\/mml:mrow>\n <\/mml:math>\n 28<\/jats:italic>\n and\n UGT1A1<\/jats:italic>\n \n \n \u204e<\/mml:mo>\n <\/mml:mrow>\n <\/mml:math>\n 6<\/jats:italic>\n . All of the patients showed multiple sites of variants in\n UGT1A1<\/jats:italic>\n ; however, variation number was not associated with bilirubin levels (\n P<\/jats:italic>\n >0.05).\n Conclusions<\/jats:italic>\n . The spectrum of\n UGT1A1<\/jats:italic>\n variants in southeastern Chinese patients was distinct from other ethnic populations. Our findings broaden the knowledge concerning traits associated with\n UGT1A1<\/jats:italic>\n variants and help profile genotype\u2013phenotype correlations in hyperbilirubinemia patients.\n <\/jats:p>","DOI":"10.1155\/2019\/6272174","type":"journal-article","created":{"date-parts":[[2019,7,29]],"date-time":"2019-07-29T19:31:59Z","timestamp":1564428719000},"page":"1-9","source":"Crossref","is-referenced-by-count":19,"title":["Analysis of the\n UGT1A1<\/i>\n Genotype in Hyperbilirubinemia Patients: Differences in Allele Frequency and Distribution"],"prefix":"10.1155","volume":"2019","author":[{"given":"Xiao-xiao","family":"Mi","sequence":"first","affiliation":[{"name":"Institute of Translational Medicine, The Affiliated Hospital of Hangzhou Normal University, Hangzhou, Zhejiang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Yan","sequence":"additional","affiliation":[{"name":"Institute of Translational Medicine, The Affiliated Hospital of Hangzhou Normal University, Hangzhou, Zhejiang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-jie","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Infectious Disease (Liver Diseases), The Affiliated Hospital of Hangzhou Normal University, Hangzhou, Zhejiang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ge-li","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Infectious Disease (Liver Diseases), The Affiliated Hospital of Hangzhou Normal University, Hangzhou, Zhejiang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-dan","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Infectious Disease (Liver Diseases), The Affiliated Hospital of Hangzhou Normal University, Hangzhou, Zhejiang, 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