Whole exome sequencing analysis for mutations in isolated type III biliary atresia patients

Kubilay Gürünlüoğlu; Ahmet Koç; Kübra Durmuş; Harika Gözükara Bağ; Canan Ceran; Semra Gürünlüoğlu; Turan Yıldız; Mehmet Gül; Mehmet Demircan

doi:10.5114/ceh.2020.102156

eISSN: 2449-8238
ISSN: 2392-1099

Clinical and Experimental Hepatology

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4/2020
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abstract:

Original paper

Whole exome sequencing analysis for mutations in isolated type III biliary atresia patients

Kubilay Gürünlüoğlu

¹

,

Ahmet Koç

²

,

Kübra Durmuş

²

,

Harika Gözükara Bağ

³

,

Canan Ceran

¹

,

Semra Gürünlüoğlu

⁴

,

Turan Yıldız

¹

,

Mehmet Gül

⁵

,

Mehmet Demircan

¹

Department of Pediatric Surgery, Faculty of Medicine, İnönü University, Malatya, Turkey
Department of Medical Genetics, Faculty of Medicine, İnönü University, Malatya, Turkey
Department of Biostatistics and Medical Informatics, Faculty of Medicine, İnönü University, Malatya, Turkey
Pathology Laboratory, Education and Research Hospital, Malatya, Turkey
Department of Histology and Embryology, Faculty of Medicine, İnönü University, Malatya, Turkey

Clin Exp HEPATOL 2020; 6, 4: 347–353

DOI: https://doi.org/10.5114/ceh.2020.102156

Online publish date: 2020/12/30

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Aim of the study
Biliary atresia is an idiopathic, destructive disease that affects both extrahepatic and intrahepatic bile ducts with severe inflammation and manifests as progressive jaundice within the first few months of life. In this study, we aimed to investigate the significance of genetic mutations in the onset of biliary atresia disease.

Material and methods
With the approval of the ethics committee and parental consent, blood was taken from patients to obtain their DNA, and the study commenced. In this prospective study, we examined the DNA of 10 patients with no disease other than biliary atresia, and an exome sequence analysis was performed with the new-generation DNA sequencing method. The genetic structure of biliary atresia disease was examined by statistical analysis of the mutations, which were determined according to the reference DNA sequencing.

Results
In the exome sequence analysis, the number of mutations detected among the patients changed significantly; the lowest number was 12,591, and the maximum was 19,863. By examining these mutations, we identified the mutated genes that were common to all patients.

Conclusions
In this study, the highest mutation rates were detected in the PRIM2 and MAP2K3 genes. These genes have not previously been associated with biliary atresia.

keywords:

Whole exome sequencing analysis for mutations in isolated type III biliary atresia patients

Kubilay Gürünlüoğlu 1 , Ahmet Koç 2 , Kübra Durmuş 2 , Harika Gözükara Bağ 3 , Canan Ceran 1 , Semra Gürünlüoğlu 4 , Turan Yıldız 1 , Mehmet Gül 5 , Mehmet Demircan 1

biliary atresia, DNA, exome sequencing analysis, mutation, genetic

Kubilay Gürünlüoğlu

¹

,

Ahmet Koç

²

,

Kübra Durmuş

²

,

Harika Gözükara Bağ

³

,

Canan Ceran

¹

,

Semra Gürünlüoğlu

⁴

,

Turan Yıldız

¹

,

Mehmet Gül

⁵

,

Mehmet Demircan

¹