An integrated picture of chronic pancreatitis derived by mapping variants in multiple disease genes onto pathogenic pathways

Author:

Prasad Hari12,Shah Idrees A12,Kurien Reuben Thomas3,Chowdhury Sudipta Dhar3,Visweswariah Sandhya S12ORCID

Affiliation:

1. Department of Developmental Biology and Genetics , Biological Sciences Building GA09, Indian Institute of Science, Sir CV Raman Avenue, , Bengaluru 560012, India

2. Indian Institute of Science , Biological Sciences Building GA09, Indian Institute of Science, Sir CV Raman Avenue, , Bengaluru 560012, India

3. Department of Gastroenterology, Christian Medical College Vellore , Ida Scudder Road, Vellore 632004, Tamil Nadu, India

Abstract

Abstract Chronic pancreatitis (CP) is an etiologically and genetically heterogeneous inflammatory syndrome characterised by progressive damage to the exocrine and endocrine components of the pancreas [ 1]. The multigenic paradigm of CP has sparked research in recent years [ 2]. We aimed to expand the current knowledge of genetic susceptibility of pancreatitis in patients of Indian origin. By employing whole-exome sequencing in an Indian hospital cohort, we dissect the genetic landscape associated with CP or recurrent acute pancreatitis (RAP). Notably, all patients had at least one genetic variant identified in a pancreatitis-risk gene, and most had a co-occurrence of a second variant in an additional risk gene. Based on the presence of both acinar and ductal gene variants in individual patients, we propose a two-hit hypothesis where variants in proteins expressed in both acinar and ductal cells are critical for RAP/CP development.

Funder

DBT/Wellcome Trust India Alliance

JC Bose National Fellow

National Science Chair

Publisher

Oxford University Press (OUP)

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3