{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hanafusa H"],"funding":["JSPS KAKENHI","Japan Society for the Promotion of Science"],"pagination":["13090"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9603041"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["19(20)"],"pubmed_abstract":["<h4>Background</h4>Free bilirubin (Bf) is a better marker than total serum bilirubin (TSB) for predicting bilirubin encephalopathy (BE). To date, two <i>UGT1A1</i> genetic variants (rs4148323 and rs3064744) have been associated with neonatal hyperbilirubinemia; however, the direct association between <i>UGT1A1</i> variants and Bf levels in newborns has not been elucidated.<h4>Methods</h4>We retrospectively analyzed the clinical data of 484 infants, including the genotype data of two <i>UGT1A1</i> genetic variants. We divided the infants into a high Bf group (Bf ≥ 1.0 µg/dL, <i>n</i> = 77) and a non-high Bf group (Bf < 1.0 µg/dL, <i>n</i> = 407), based on the peak Bf values. Logistic regression analysis was performed to calculate the odds ratios (ORs) for each variant allele compared to wild-type alleles.<h4>Results</h4>The frequencies of the A allele in rs4148323 and (TA)<sub>7</sub> allele in rs3064744 in the high Bf group (29% and 4%, respectively) were significantly different from those in the non-high Bf group (16% and 12%, respectively). In logistic regression analysis, for rs4148323, the A allele was significantly associated with an increased risk of hyper-free bilirubinemia over the G allele (adjusted OR: 1.80, 95% confidence interval [CI]: 1.19-2.72, <i>p</i> < 0.01). However, for rs3064744, the (TA)<sub>7</sub> allele was significantly associated with a decreased risk of hyper-free bilirubinemia over the (TA)<sub>6</sub> allele (adjusted OR: 0.42, 95% CI: 0.18-0.95, <i>p</i> = 0.04).<h4>Conclusions</h4>This study is the first to show that the A allele in rs4148323 is a risk factor and that the (TA)<sub>7</sub> allele in rs3064744 is a protective factor for developing hyper-free bilirubinemia in Japanese newborns."],"journal":["International journal of environmental research and public health"],"pubmed_title":["Influence of <i>UGT1A1</i> Genetic Variants on Free Bilirubin Levels in Japanese Newborns: A Preliminary Study."],"pmcid":["PMC9603041"],"funding_grant_id":["21K15880","20H00102","20K08229"],"pubmed_authors":["Ohyama S","Abe S","Kyono Y","Tanimura K","Nozu K","Hanafusa H","Nakasone R","Fujioka K","Kido T","Ashina M"],"additional_accession":[]},"is_claimable":false,"name":"Influence of <i>UGT1A1</i> Genetic Variants on Free Bilirubin Levels in Japanese Newborns: A Preliminary Study.","description":"<h4>Background</h4>Free bilirubin (Bf) is a better marker than total serum bilirubin (TSB) for predicting bilirubin encephalopathy (BE). To date, two <i>UGT1A1</i> genetic variants (rs4148323 and rs3064744) have been associated with neonatal hyperbilirubinemia; however, the direct association between <i>UGT1A1</i> variants and Bf levels in newborns has not been elucidated.<h4>Methods</h4>We retrospectively analyzed the clinical data of 484 infants, including the genotype data of two <i>UGT1A1</i> genetic variants. We divided the infants into a high Bf group (Bf ≥ 1.0 µg/dL, <i>n</i> = 77) and a non-high Bf group (Bf < 1.0 µg/dL, <i>n</i> = 407), based on the peak Bf values. Logistic regression analysis was performed to calculate the odds ratios (ORs) for each variant allele compared to wild-type alleles.<h4>Results</h4>The frequencies of the A allele in rs4148323 and (TA)<sub>7</sub> allele in rs3064744 in the high Bf group (29% and 4%, respectively) were significantly different from those in the non-high Bf group (16% and 12%, respectively). In logistic regression analysis, for rs4148323, the A allele was significantly associated with an increased risk of hyper-free bilirubinemia over the G allele (adjusted OR: 1.80, 95% confidence interval [CI]: 1.19-2.72, <i>p</i> < 0.01). However, for rs3064744, the (TA)<sub>7</sub> allele was significantly associated with a decreased risk of hyper-free bilirubinemia over the (TA)<sub>6</sub> allele (adjusted OR: 0.42, 95% CI: 0.18-0.95, <i>p</i> = 0.04).<h4>Conclusions</h4>This study is the first to show that the A allele in rs4148323 is a risk factor and that the (TA)<sub>7</sub> allele in rs3064744 is a protective factor for developing hyper-free bilirubinemia in Japanese newborns.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Oct","modification":"2026-04-08T18:25:26.731Z","creation":"2025-04-19T04:20:45.185Z"},"accession":"S-EPMC9603041","cross_references":{"pubmed":["36293671"],"doi":["10.3390/ijerph192013090"]}}