{
  "abstract": "Neonatal hyperbilirubinemia (NHB) is common in neonates, and genetic factors are important contributors to bilirubin metabolism. However, data on NHB-related genetic variants in northern China remain limited. This multicenter case-control study included 413 neonates hospitalized with unexplained NHB and 120 control neonates who had not been diagnosed with hyperbilirubinemia at enrollment on the day of birth. Twelve hotspot loci in UGT1A1, G6PD, SLC25A13, SLC10A1, and ABCC2 were genotyped using multicolor melting curve analysis. The overall target variant detection rate was significantly higher in cases than in controls (63.0% vs. 45.0%; OR = 2.08, 95% CI: 1.38–3.13, P < 0.001). UGT1A1 variants were the most frequently detected and were more common in cases than in controls (OR = 2.20, 95% CI: 1.45–3.33, P < 0.001). UGT1A1 c.211G>A was the predominant locus, and carriers of at least one variant allele were more frequent in cases than in controls (53.3% vs. 37.5%; OR = 1.90, 95% CI: 1.25–2.89, P = 0.002), with the association remaining significant after FDR correction. Multi-site variants were detected in 34 cases and 5 controls. Among these neonates, 25 had within-gene multi-site variants, all involving UGT1A1, whereas 14 had cross-gene multi-site variants, mainly involving coexistence of UGT1A1 variants with SLC10A1 or G6PD variants. These findings provide regional data on the distribution of bilirubin metabolism-related genetic variants in northern Chinese neonates with unexplained NHB.",
  "abstract_shown": true,
  "affiliations": [
    "Capital Institute of Pediatrics, Chinese Academy of Medical Sciences & Peking Union Medical College , ,",
    "Department of Neonatology, Capital Center for Children’s Health, Capital Medical University, Capital Institute of Pediatrics , ,",
    "Laboratory Center, Capital Center for Children’s Health, Capital Medical University, Capital Institute of Pediatrics , ,",
    "Department of Pediatrics, Beijing Chaoyang Hospital, Capital Medical University , ,",
    "Department of Obstetrics, The First Hospital of Tsinghua University, School of Clinical Medicine Tsinghua Medicine Tsinghua University , ,",
    "Neonatal Department, Haidian District Maternal and Child Health Care Hospital , ,",
    "Neonatal Department, Liaoning Maternal and Child Health Hospital , , ,",
    "Neonatal Department, Inner Mongolia Maternity and Child Health Care Hospital Neonatology Division , , ,",
    "Department of Pediatrics, Beijing Aerospace General Hospital , ,",
    "Neonatal Department, Beijing Obstetrics and Gynecology Hospital, Capital Medical University , ,"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 11,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Sihan Sheng"
    },
    {
      "affs": [
        1
      ],
      "name": "Ying Li"
    },
    {
      "affs": [
        2
      ],
      "name": "Lijuan Ma"
    },
    {
      "affs": [
        3
      ],
      "name": "Hesheng Chang"
    },
    {
      "affs": [
        4
      ],
      "name": "Yanmei Guan"
    },
    {
      "affs": [
        5
      ],
      "name": "Yanzhe Lei"
    },
    {
      "affs": [
        6
      ],
      "name": "Chunying Tan"
    },
    {
      "affs": [
        7
      ],
      "name": "Arigonggaowa"
    },
    {
      "affs": [
        8
      ],
      "name": "Hongfei Wen"
    },
    {
      "affs": [
        9
      ],
      "name": "Chen Kou"
    },
    {
      "affs": [
        1
      ],
      "name": "Yajuan Wang"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/b1heym0qbtnv6.bib",
  "cited_by": 0,
  "doi": "10.3389/fped.2026.1945311",
  "fulltext_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13727740/?tool=EBI",
  "id": "b1heym0qbtnv6",
  "issns": [
    "2296-2360"
  ],
  "landing_url": "https://europepmc.org/article/PMC/PMC13727740",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Original Research"
    ],
    [
      "openalex",
      "2735|Neonatal Health and Biochemistry"
    ]
  ],
  "openalex": "W7223034456",
  "pdf_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13727740/pdf/?tool=EBI",
  "pmcid": "PMC13727740",
  "pmid": "42978948",
  "published": "2026-10-20",
  "publisher": "Frontiers Media SA",
  "ris": "https://research.draconitic.com/paper/b1heym0qbtnv6.ris",
  "sources": [
    {
      "first_seen": "2026-11-04T15:20:46Z",
      "native_id": "PMC:PMC13727740",
      "source": "europepmc",
      "url": "https://europepmc.org/article/PMC/PMC13727740"
    },
    {
      "first_seen": "2026-11-06T12:23:34Z",
      "native_id": "PMC13727740",
      "source": "pmc",
      "url": "https://doi.org/10.3389/fped.2026.1945311"
    }
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  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2735|Neonatal Health and Biochemistry",
      "subfield": "reproductive-child"
    }
  ],
  "title": "Bilirubin metabolism-related genetic variants in neonatal hyperbilirubinemia: a multicenter case-control study in northern China",
  "title_text": "Bilirubin metabolism-related genetic variants in neonatal hyperbilirubinemia: a multicenter case-control study in northern China",
  "type": "peer-reviewed",
  "updated_at": "2026-11-07T12:20:52Z",
  "url": "https://research.draconitic.com/paper/b1heym0qbtnv6",
  "venue": "Frontiers in pediatrics",
  "versions": []
}