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There are no data on <jats:italic>UGT1A1<\/jats:italic> polymorphisms and their impact on Nigerian SCA patients. In this study, we determined the distribution of the <jats:italic>UGT1A1<\/jats:italic> (TA) n genotypes among a group of young Nigerian SCA patients and healthy controls. In addition, the influence of <jats:italic>UGT1A1<\/jats:italic> (TA) n genotypes on the laboratory and clinical events among the patients was determined.<\/jats:p>\n              <\/jats:sec>\n              <jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>The distribution of the <jats:italic>UGT1A1<\/jats:italic> (TA) n genotypes among 101 young Nigerian SCA patients and 64 normal appropriate controls were determined and studied. The <jats:italic>UGT1A1<\/jats:italic> (TA) n genotypes were further classified into subgroups and used to differentiate the clinical events and laboratory parameters of the patients.<\/jats:p>\n              <\/jats:sec>\n              <jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Four (TA) n alleles:(TA)5, 6, 7, and 8 were found. These were associated with 10 genotypes: TA5\/5, 5\/6, 5\/7, 5\/8, 6\/6, 6\/7, 6\/8, 7\/7, 7\/8, 8\/8. The normal (wild-type)-(TA) 6\/6), low- (TA) 7\/7, 7\/8, 8\/8), intermediate- (TA) 5\/7, 5\/8, 6\/7, 6\/8), and high-activity (TA) 5\/5, 5\/6,) genotypes were found in 24.8, 24.8, 41.5, and 8.9% patients and 20.3, 15.6, 61, and 3.1% controls respectively. The general genotype distribution of the patients and control group were not significantly different. There were significant differences in serum bilirubin and lactate dehydrogenase (LDH) of the patients when differentiated by the <jats:italic>UGT1A1<\/jats:italic> (TA) n genotypes (<jats:italic>p<\/jats:italic>&lt;0.05). Asymptomatic gallstones were found in 5.9% of patients and were significantly of the low-activity genotypes sub-group 5 (20%) vs 1(1.3%) <jats:italic>p<\/jats:italic>\u2009=\u20090.0033. Although, bilirubin and fetal hemoglobin (HbF) of patients with gallstones were significantly different from those without gallstone, only the serum bilirubin was associated with <jats:italic>UGT1A1<\/jats:italic> (TA) n genotypes on multivariate analysis (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.0001).<\/jats:p>\n              <\/jats:sec>\n              <jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>This study highlights the contribution of <jats:italic>UGT1A1<\/jats:italic> polymorphisms, a non-globin genetic factor, to the laboratory and clinical manifestations of young Nigerian SCA patients for the first time. It also shows that children with co-inheritance of low <jats:italic>UGT1A1<\/jats:italic> (TA) n affinity genotypes may be at risk of gallstone, hence the need to follow them up.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12881-019-0899-3","type":"journal-article","created":{"date-parts":[[2019,10,16]],"date-time":"2019-10-16T10:03:55Z","timestamp":1571220235000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Uridine diphosphate glucuronosyl transferase 1A (UGT1A1) promoter polymorphism in young patients with sickle cell anaemia: report of the first cohort study from Nigeria"],"prefix":"10.1186","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2564-3064","authenticated-orcid":false,"given":"Oladele Simeon","family":"Olatunya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dulcineia Martins","family":"Albuquerque","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ganiyu Olusola","family":"Akanbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olufunso Simisola","family":"Aduayi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adekunle Bamidele","family":"Taiwo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Opeyemi Ayodeji","family":"Faboya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tolorunju Segun","family":"Kayode","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela Pinheiro","family":"Leonardo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adekunle","family":"Adekile","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando Ferreira","family":"Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,10,16]]},"reference":[{"key":"899_CR1","doi-asserted-by":"publisher","first-page":"2018","DOI":"10.1016\/S0140-6736(10)61029-X","volume":"376","author":"DC Rees","year":"2010","unstructured":"Rees DC, Williams TN, Gladwin MT. 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Free Radic Biol Med. 2008;44:602\u201313.","journal-title":"Free Radic Biol Med"}],"container-title":["BMC Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12881-019-0899-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12881-019-0899-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12881-019-0899-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,14]],"date-time":"2020-10-14T23:15:23Z","timestamp":1602717323000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/s12881-019-0899-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,16]]},"references-count":43,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["899"],"URL":"https:\/\/doi.org\/10.1186\/s12881-019-0899-3","relation":{},"ISSN":["1471-2350"],"issn-type":[{"value":"1471-2350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,16]]},"assertion":[{"value":"16 April 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 September 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 October 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The study was performed according to the Declaration of Helsinki on research involving human subjects. The study was approved by the Ethics and Research Committee of EKSUTH no: A67\/2016\/03\/003. Because the DNA analysis was done at the hematology and hemotherapy centre, University of Campinas, the study was also approved by the University of Campinas Ethics Committee no: CAAE 54031115.9.0000.5404. Written informed consent of parents\/caregivers as well as patients\u2019 assents and consents were obtained as applicable after explaining the purpose of the study to them in clear and plain language.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"160"}}