G6PD genetic variations in neonatal Hyperbilirubinemia in Indonesian Deutromalay population

BMC Pediatrics

Sri E. Rahayuningsih¹  Dewi A. Wisnumurti²  Abdurachman Sukadi³  Eni K. Asni⁴  Tri H. Achmad⁵  Robert M. Porsch⁶  Wilfred F. J. van Ijcken⁷  Frank Sleutels⁷  Yunia Sribudiani⁸  Ani M. Maskoen⁸ 

[1] Departement of Pediatric, Cardiology Subdivision, Dr. Hasan Sadikin Hospital, Faculty of Medicine, Universitas Padjadjaran;Departement of Pediatric, Neonatology Subdivision, Arifin Achmad General Hospital, Universitas Riau;Departement of Pediatric, Neonatology Subdivision, Dr. Hasan Sadikin Hospital, Faculty of Medicine, Universitas Padjadjaran;Department of Biochemistry, Faculty of Medicine, Universitas Riau;Department of Biomedical Sciences, Division of Biochemistry and Molecular Biology, Faculty of Medicine, Universitas Padjadjaran;Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong;Erasmus Center for Biomics, Erasmus MC;Research Center of Medical Genetics, Faculty of Medicine, Universitas Padjadjaran;

关键词: Deutromalay;    G6PD deficiency;    Genetics variation;    Neonatal Hyperbilirubinemia;   

DOI  :  10.1186/s12887-019-1882-z

来源: DOAJ

【 摘 要 】

Abstract Background Neonatal jaundice is a common finding in newborns in Asia, including Indonesia. In some cases, the serum total bilirubin levels exceeds the 95th percentile for hours of life (neonatal hyperbilirubinemia). Severe neonatal hyperbilirubinemia (NH) could lead to kernicterus and neonatal death. Glucose-6-Phosphage Dehydrogenase (G6PD) genetic variations and deficiency have been reported in several studies to be associated with NH. This study aimed to analyze the G6PD genetic variations and its activity in neonates with and without hyperbilirubinemia in the Deutromalay Indonesian population. Methods Deoxyribose Nucleic Acid (DNA) was isolated from peripheral blood of 116 and 115 healthy term neonates with and without hyperbilirubinemia. All infants underwent the following laboratory examinations: routine hematologic evaluation, Coombs test, G6PD activity measurement using the Randox kit method, and serum total bilirubin level. All exons of the G6PD gene were targeted for deep sequencing using MiSeq (Illumina). An association study of G6PD polymorphisms with NH was performed using PLINK. Results The prevalence of G6PD deficiency in neonates with and without hyperbilirubinemia in Indonesian Deutromalay population were 1.72% (95% Confidence Interval (CI): 0.6–4.1%) and 1.74% (95% CI: 0.7–4.1%), respectively. The most common G6PD polymorphisms, i.e. rs1050757/c.* + 357A > G, rs2230037/c.1311C > T, and rs2071429/c.1365-13 T/IVS11, were identified. However, none of those polymorphisms and their haplotype were associated with NH (p > 0.05, Odds Ratio (OR) ~1.00). The prevalence of G6PD mutations in neonates with and without hyperbilirubinemia were 6.8% (95% CI: 2.3–11.5%) and 6.9% (95% CI: 2.3–11.6%), respectively. The most frequently identified G6PD mutation was the Viangchan variant (p.V291 M), which was followed by the Canton (p.R459L) and Vanua Lava (p.L128P) variants. Two novel mutations were identified both in case (p.V369A, p.I167F) and control (p.L474=, p.I36T) groups. Conclusion The prevalence of G6PD deficiency is low in neonates with or without hyperbilirubinemia in Deutromalay Indonesian population. The majority of G6PD mutations identified among Indonesian Deutromalay population in this study are Viangchan, Canton and Vanua Lava variants.

【 授权许可】

Unknown