{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T16:50:34Z","timestamp":1792515034282,"version":"4.5.0"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,12,12]],"date-time":"2016-12-12T00:00:00Z","timestamp":1481500800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001412","name":"Council of Scientific and Industrial Research","doi-asserted-by":"publisher","award":["27(0257)\/12\/EMR\u2010II"],"award-info":[{"award-number":["27(0257)\/12\/EMR\u2010II"]}],"id":[{"id":"10.13039\/501100001412","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Objective<\/jats:bold>: The present study was undertaken to investigate the genotype and allele frequencies of the variants in the four bilirubin metabolism genes (<jats:italic>UGT1A1, OATP2, HMOX1<\/jats:italic>, and <jats:italic>BLVRA<\/jats:italic>) and their association with hyperbilirubinemia. <jats:bold>Material and Methods<\/jats:bold>: Genotyping of 17 genetic variants was performed in 115 adults with hyperbilirubinemia and 150 controls by PCR\u2010RFLP, GeneScan analysis, and direct DNA sequencing. <jats:bold>Results<\/jats:bold>: Genetic polymorphisms of the <jats:italic>UGT1A1<\/jats:italic> promoter, specifically the T\u20103279G phenobarbital\u2010responsive enhancer module and (TA)7 dinucleotide repeat, as well as the intron and coding region variants of the <jats:italic>OATP2, HMOX1<\/jats:italic>, and <jats:italic>BLVRA<\/jats:italic> genes, were significantly higher among the cases than the controls. Further, nearly 82% of the cases showed the presence of significantly four or more variants as compared to 37% of the controls (<jats:italic>P<\/jats:italic> &lt; 0.0001) and the mean total serum bilirubin levels also increased according to the number of variants co\u2010expressed. <jats:bold>Conclusions<\/jats:bold>: This study demonstrates that polymorphisms in the bilirubin metabolism genes had a significant effect on bilirubin levels and could be genetic risk factors for hyperbilirubinemia.<\/jats:p>","DOI":"10.1111\/ahg.12179","type":"journal-article","created":{"date-parts":[[2016,12,12]],"date-time":"2016-12-12T06:03:04Z","timestamp":1481522584000},"page":"11-19","source":"Crossref","is-referenced-by-count":30,"title":["Genetic Variations in Bilirubin Metabolism Genes and Their Association with Unconjugated Hyperbilirubinemia in Adults"],"prefix":"10.1111","volume":"81","author":[{"given":"Ashish S.","family":"Chiddarwar","sequence":"first","affiliation":[{"name":"National Institute of Immunohaematology (ICMR) K.E.M Hospital Campus  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selma Z.","family":"D'Silva","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology (ICMR) K.E.M Hospital Campus  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roshan B.","family":"Colah","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology (ICMR) K.E.M Hospital Campus  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanjaksha","family":"Ghosh","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology (ICMR) K.E.M Hospital Campus  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malay B.","family":"Mukherjee","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology (ICMR) K.E.M Hospital Campus  Mumbai 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