Genetic Evaluation of Children with Idiopathic Recurrent Acute Pancreatitis
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ORIGINAL ARTICLE
Genetic Evaluation of Children with Idiopathic Recurrent Acute Pancreatitis Zaheer Nabi1 · Rupjyoti Talukdar1 · Ravikanth Venkata1 · Mohsin Aslam1 · Upender Shava1 · D. Nageshwar Reddy1 Received: 21 June 2019 / Accepted: 22 December 2019 © Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Objectives Several genetic risk factors have been identified in adults with idiopathic acute recurrent pancreatitis (IARP). However, the literature regarding the genetics of IARP is sparse in children. In this study, we aimed to analyze the genetic risk factors in children with IARP. Methods All children ( G) rs111033566 (A > T) rs111033565 (G > A) rs10273639 (T > C) rs140993290 (G > A) rs515726209 (G > A) rs497078 (C > T) rs12338 (C > G) rs7057398 (T > C) rs113993960 (del/CTT) rs113993959 (G > T) rs75527207 (G > A) rs78655421 (G > A)
Wild type (AA) Wild type (AA) Wild type (GG) Wild type (TT) Wild type (GG) Wild type (GG) Wild type (CC) Wild type (CC) Wild type (TT) Wild type (CTT) Wild type (GG) Wild type (GG) Wild type (GG)
G T A C A A T G C Deletion of CTT TT AA AA
SNPs single-nucleotide polymorphisms, PRSS1 cationic trypsinogen protease serine 1, SPINK1 serine protease inhibitor Kazal type 1, CFTR cystic fibrosis transmembrane conductance regulator gene, CTRC chymotrypsin C, CLDN2 claudin-2, CTSB cathepsin B
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Digestive Diseases and Sciences
Definition of ARP ARP was defined as per the recent report from INSPPIRE (International Study Group Of Pediatric Pancreatitis: In Search For A Cure) as follows [5]: At least two distinct episodes of acute pancreatitis, along with: • Complete resolution of pain (≥ 1 month pain-free inter-
val between the diagnoses of acute pancreatitis).
OR • Complete normalization of serum pancreatic enzyme
levels (amylase and lipase), before the subsequent episode of acute pancreatitis is diagnosed, along with complete resolution of pain symptoms, irrespective of a specific time interval between acute pancreatitis episodes.
Genetic Analysis The methodology of genetic analysis has been described in detail in our previous study [6]. Two milliliters of blood with EDTA as anticoagulant was collected, and DNA was isolated using a commercial kit (Bioserve Biotechnologies, Hyderabad, India) following manufacturers protocol at the Genetics Laboratory, Asian Healthcare Foundation, Hyderabad. Quality control for the isolated DNA was performed prior to genotyping. All the samples were genotyped for SNPs in the six candidate genes (Table 1) using TaqMan single-nucleotide genotyping assay (Life Technologies, USA) on the real-time polymerase chain reaction (PCR) platform. A known heterozygous and homozygous variant sample was replicated across all the plates, and these known genotypes were verified manually during analysis in all the plates.
Statistical Analyses A database was generated in Excel for Mac (Version 14.2.3; Microsoft, Richmond, VA, USA), and all analyses were carried out using the Statistical Package for Social Sciences (SPSS Inc.; Chicago,
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