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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

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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. 1 Department of Gastroenterology, Digestive Endoscopy Center, Changhai Hospital, the Second Military Medical University, Shanghai, China
  2. 2 Shanghai Institute of Pancreatic Diseases, Shanghai, China
  3. 3 Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France
  4. 4 Laboratoire de Génétique Moléculaire et d’Histocompatibilité, Centre Hospitalier Universitaire (CHU) Brest, Hôpital Morvan, Brest, France
  5. 5 Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale (UBO), Brest, France
  6. 6 Etablissement 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

https://doi.org/10.1136/gutjnl-2017-315180

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    We read with great interest the article by Rosendahl et al 1 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 together, Rosendahl and colleagues concluded that …

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    Footnotes

    • X-YT and W-BZ contributed equally.

    • Contributors ZL, Z-SL, CF and J-MC designed the study. X-YT and W-BZ performed genetic analyses with the assistance of L-HH. EM established the modified inversion detection method. W-BZ and J-MC drafted the manuscript. All authors interpreted the data, revised the text and approved the final manuscript.

    • Funding Support for this study came from the National Natural Science Foundation of China (Grant Nos.81422010 and 81470884; to ZL), the Chang Jiang Scholars Program of Ministry of Education, China (Grant No. Q2015190; to ZL), Shanghai Pujiang Program (Grant No 17PJD044; to W-BZ), the Precision Medicine Program of the Second Military Medical University (Grant No 2017JZ02; to Z-SL), and the Institut National de la Santé et de la Recherche Médicale (INSERM), France.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Ethics approval Ethical committee of changhai hospital, Shanghai, China.

    • Provenance and peer review Not commissioned; internally peer reviewed.