Z Gastroenterol 2017; 55(08): e57-e299
DOI: 10.1055/s-0037-1604949
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Genetic analysis of the CTRB1-CTRB2 locus in chronic pancreatitis

K Seltsam
1   Universitätsklinikum Leipzig, Gastroenterologisches Forschungslabor, Leipzig, Deutschland
,
C Ruffert
1   Universitätsklinikum Leipzig, Gastroenterologisches Forschungslabor, Leipzig, Deutschland
,
S Beer
2   Universitätsklinikum Leipzig, Department für Innere Medizin, Neurologie und Dermatologie, Abteilung Gastroenterologie, Leipzig, Deutschland
,
J Mössner
3   Universitätsklinikum Leipzig, Department für Innere Medizin, Neurologie und Dermatologie, Leipzig, Deutschland
,
P Michl
4   Universitätsklinikum Halle (Saale), Klinik für Innere Medizin I, Halle (Saale), Deutschland
,
M Sahin-Tóth
5   Boston University, Center for Exocrine Disorders, Department of Molecular and Cell Biology, Boston, Vereinigte Staaten von Amerika
,
H Witt
6   Technische Universität München (TUM), Else Kröner-Fresenius-Zentrum für Ernährungsmedizin, Freising, Deutschland
,
J Rosendahl
4   Universitätsklinikum Halle (Saale), Klinik für Innere Medizin I, Halle (Saale), Deutschland
› Author Affiliations
Further Information

Publication History

Publication Date:
02 August 2017 (online)

Also available at
 

Introduction:

Our genome wide association study in alcoholic chronic pancreatitis (ACP) confirmed associations with the established loci PRSS1-PRSS2, CLDN2-MORC4, SPINK1, CTRC, and identified a new association within the CTRB1-CTRB2 locus. This association was replicated in non-alcoholic chronic pancreatitis (NACP). The CTRB1-CTRB2 locus is complex with 97% identical genes and a 16.6 kb inversion exchanging the promotor region, exon 1 and intron 1.

Aim:

To find rare genetic variants within the CTRB1-CTRB2 locus with association to chronic pancreatitis (CP).

Methods:

Seventy ACP and 60 NACP patients as well as 80 controls were analyzed. Polymerase chain reaction was performed to identify the 16.6kb inversion genotype followed by Sanger sequencing of both genes.

Results:

The variant c.315+101T>A in intron 4 of CTRB2 showed a significantly increased allele frequency of the A-allele in ACP patients compared to controls (0.42 vs. 0.30, OR 1.7, 95% CI 1.03 – 2.7, p = 0.036). A similar but not statistically significant distribution of this variant was found in NACP. Other variants were identified with non-significant difference in comparison to controls, e.g. variant p.A250T in CTRB2 (0.89 vs. 0.81).

Conclusion:

Although the CTRB1-CTRB2 locus is known to be associated with CP, the preliminary results of this study did not detect any rare variants with significant association. However, variant c.315+101T>A in CTRB2 is significantly overrepresented in ACP. As such, the number of patients needs to be increased to further elucidate the impact of rare and common variants in this locus for CP development.