Known genetic susceptibility factors for chronic pancreatitis in patients of European ancestry are rare in patients of African ancestry

Anna Evans Phillips, Jessica LaRusch, Phil Greer, Judah Abberbock, Samer Alkaade, Stephen T. Amann, Michelle A. Anderson, John Baillie, Peter A. Banks, Randall E. Brand, Darwin Conwell, Gregory A. Coté, Christopher E. Forsmark, Timothy B. Gardner, Andres Gelrud, Nalini Guda, Michele Lewis, Mary E. Money, Thiruvengadam Muniraj, Bimaljit S. SandhuStuart Sherman, Vikesh K. Singh, Adam Slivka, Gong Tang, C. Mel Wilcox, David C. Whitcomb, Dhiraj Yadav

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


Background: Multiple pathogenic genetic variants are associated with pancreatitis in patients of European (EA) and Asian ancestries, but studies on patients of African ancestry (AA) are lacking. We evaluated the prevalence of known genetic variations in African-American subjects in the US. Methods: We studied prospectively enrolled controls (n = 238) and patients with chronic (CP) (n = 232) or recurrent acute pancreatitis (RAP) (n = 45) in the NAPS2 studies from 2000-2014 of self-identified AA. Demographic and phenotypic information was obtained from structured questionnaires. Ancestry and admixture were evaluated by principal component analysis (PCA). Genotyping was performed for pathogenic genetic variants in PRSS1, SPINK1, CFTR and CTRC. Prevalence of disease-associated variants in NAPS2 subjects of AA and EA was compared. Results: When compared with CP subjects of EA (n = 862), prevalence of established pathogenic genetic variants was infrequent in AA patients with CP, overall (29 vs. 8.19%, OR 4.60, 95% CI 2.74–7.74, p < 0.001), and after stratification by alcohol etiology (p < 0.001). On PCA, AA cases were more heterogeneous but distinct from EA subjects; no difference was observed between AA subjects with and without CP-associated variants. Of 19 A A patients with CP who had pathogenic genetic variants, 2 had variants in PRSS1 (R122H, R122C), 4 in SPINK1 (all N34S heterozygotes), 12 in CFTR (2 CFTR sev , 9 CFTR BD , 1 compound heterozygote with CFTR sev and CFTR BD ), and 1 in CTRC (R254W). Conclusion: Pathogenic genetic variants reported in EA patients are significantly less common in AA patients. Further studies are needed to determine the complex risk factors for AA subjects with pancreatitis.

Original languageEnglish
Pages (from-to)528-535
Number of pages8
Issue number5
StatePublished - Jul 2018

Bibliographical note

Funding Information:
This research was partly supported by the UPMC GI T32 Training Grant T32 DK063922 (AEP, JL) NIH DK061451 (DCW), DK077906 (DY), UO1 DK108327 (DC), UO1 DK108320 (CEF), U01 DK108306 (DCW, DY). This publication was made possible in part by Grant Number UL1 RR024153 and UL1TR000005 from the National Center for Research Resources , a component of the National Institutes of Health , and NIH Roadmap for Medical Research (University of Pittsburgh. PI, Steven E Reis, MD). Its contents are solely the responsibility of the authors and do not necessarily represent the official view of the NCRR or NIH.

Funding Information:
This study was presented as a Poster at the Digestive Disorders Week 2016 and published in an abstract form in Gastroenterology April 2016, Vol 150, Supp 4, Page S913 as ?Common Genetic Susceptibility Factors for Recurrent Acute Pancreatitis (RAP) and Chronic Pancreatitis (CP) in White patients are rare in Black patients.? The authors acknowledge the Epidemiology Data Center, Michael O'Connell, PhD Division of Gastroenterology & Hepatology at the University of Pittsburgh for data management of NAPS2 studies, Indrani Halder, PhD Division of Cardiology at the UPMC Heart and Vascular Institute for critical review of versions of the manuscript and providing helpful feedback, Kim Stello and Danielle Dwyer for genotyping and laboratory management, and other members of the NAPS2 consortium.

Publisher Copyright:
© 2018


  • African ancestry
  • African-American
  • Alcohol
  • Blacks
  • Genetics
  • Pancreatitis

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Hepatology
  • Gastroenterology


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