Sources of Neonatal Medicine

Lin F.a· Xu J.-X.a· Wu Y.-H.a· Chen Z.-K.b· Chen M.-T.a· Ma Y.-B.c· Li J.-D.c· Yang L.-Y.d

Author affiliations

aPrecision Medical Lab Center, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, China
bSchool of Food Engineering and Biotechnology, Hanshan Normal University, Chaozhou, China
cDepartment of Neonatology, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, China
dPrecision Medical Lab Center, People’s Hospital of Yangjiang, Yangjiang, China

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Article / Publication Details

First-Page Preview

Received: September 07, 2022
Accepted: January 31, 2023
Published online: April 11, 2023

Number of Print Pages: 10
Number of Figures: 1
Number of Tables: 4

ISSN: 1661-7800 (Print)
eISSN: 1661-7819 (Online)

For additional information: https://www.karger.com/NEO

Abstract

Introduction: Neonatal hyperbilirubinemia is common and remains a clinical concern in China. Since neonatal hyperbilirubinemia is linked to genetic factors, we aimed to identify the gene variants of the red blood cell membrane (RBCM) and evaluate the clinical risk factors in Chinese neonates with hyperbilirubinemia. Methods: 117 hyperbilirubinemia neonates (33 cases of moderate hyperbilirubinemia and 84 cases of severe hyperbilirubinemia) and 49 controls with normal bilirubin levels were selected as our study subjects. A customized 22-gene panel with next-generation sequencing (NGS) was designed to characterize genetic variations among the neonates. Sanger sequencing was used to verify the accuracy of the NGS. The clinical risk factors and potential effects of genetic variations in neonates with hyperbilirubinemia were subsequently assessed. Results: After data filtering, suspected pathogenic variants of UGT1A1, SLCCO1B1, and RBCM-associated gene were identified in neonates, the combined numbers of RBCM-associated gene variants were found to have differences between the hyperbilirubinemia group and the controls (p = 0.008), they were also different between severe hyperbilirubinemia and moderate hyperbilirubinemia (p = 0.008), and were correlated with an increased risk of hyperbilirubinemia (odds ratio = 9.644, p = 0.006). The UGT1A1-rs4148323 variant in neonates with hyperbilirubinemia was significantly increased as compared with the controls (p < 0.001). However, there was no statistical difference for the SLCO1B1-rs2306283 variant between the hyperbilirubinemia group and the controls. In addition, breastfeeding contributed to an increased risk of hyperbilirubinemia. Conclusion: Our study highlights that the RBCM-related gene variants are an underestimated risk factor, which may play an important role in developing hyperbilirubinemia in Chinese newborns.

© 2023 S. Karger AG, Basel

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First-Page Preview

Received: September 07, 2022
Accepted: January 31, 2023
Published online: April 11, 2023

Number of Print Pages: 10
Number of Figures: 1
Number of Tables: 4

ISSN: 1661-7800 (Print)
eISSN: 1661-7819 (Online)

For additional information: https://www.karger.com/NEO

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