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The CTRB1-CTRB2 risk allele for chronic pancreatitis discovered in European populations does not contribute to disease risk variation in the Chinese population due to near allele fixation
  1. Xin-Ying Tang1,2,
  2. Wen-Bin Zou1,2,
  3. Emmanuelle Masson3,4,
  4. Liang-Hao Hu1,2,
  5. Claude Ferec3,4,5,6,
  6. Jian-Min Chen3,4,6,
  7. Zhao-Shen Li1,2,
  8. Zhuan Liao1,2
  1. 1Department of Gastroenterology, Digestive Endoscopy Center, Changhai Hospital, the Second Military Medical University, Shanghai, China
  2. 2Shanghai Institute of Pancreatic Diseases, Shanghai, China
  3. 3Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France
  4. 4Laboratoire de Génétique Moléculaire et d’Histocompatibilité, Centre Hospitalier Universitaire (CHU) Brest, Hôpital Morvan, Brest, France
  5. 5Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale (UBO), Brest, France
  6. 6Etablissement Français du Sang (EFS) – Bretagne, Brest, France
  1. Correspondence to Professor Zhao-Shen Li, Department of Gastroenterology, Digestive Endoscopy Center, Changhai Hospital, the Second Military Medical University, Shanghai, 200433, China; zhaoshenli{at}hotmail.com and Dr. Zhuan Liao, Department of Gastroenterology, Changhai Hospital, the Second Military Medical University, Shanghai, China; liaozhuan{at}smmu.edu.cn

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We read with great interest the article by Rosendahl et al1 reporting the identification of CTRB1-CTRB2 (chymotrypsin B1 and chymotrypsin B2) as a new chronic pancreatitis (CP) risk locus by means of genome-wide association study, with the lead single nucleotide polymorphism (SNP) rs8055167 having an OR of 1.35. Moreover, they found that a previously reported 16.6 kb inversion in the CTRB1-CTRB2 locus2 was in linkage disequilibrium with the CP-associated SNPs and optimally tagged by rs8048956. Furthermore, they provided in silico and in vivo evidence showing that the inversion variant changes the expression ratio of the CTRB1 and CTRB2 isoforms, the major risk allele being associated with increased CTRB1 and decreased CTRB2 mRNA expression as compared with the minor allele. Finally, they provided in vitro evidence that CTRB1 was less efficient in degrading anionic trypsinogen (PRSS2) than CTRB2 (note that rapid degradation of PRSS2 conferred by a PRSS2 missense variant protects against CP).3 Taking …

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