WFRF:(Mueller MJ)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 05571naa a2201297 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:139220169 | |
| 003 | SwePub | |
| 008 | 240811s2018 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1392201692 URI |
| 024 | 7 | a https://doi.org/10.1136/gutjnl-2017-3144542 DOI |
| 040 | a (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Rosendahl, J4 aut |
| 245 | 1 0 | a Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis |
| 264 | c 2017-07-28 | |
| 264 | 1 | b BMJ,c 2018 |
| 520 | a Alcohol-related pancreatitis is associated with a disproportionately large number of hospitalisations among GI disorders. Despite its clinical importance, genetic susceptibility to alcoholic chronic pancreatitis (CP) is poorly characterised. To identify risk genes for alcoholic CP and to evaluate their relevance in non-alcoholic CP, we performed a genome-wide association study and functional characterisation of a new pancreatitis locus.Design1959 European alcoholic CP patients and population-based controls from the KORA, LIFE and INCIPE studies (n=4708) as well as chronic alcoholics from the GESGA consortium (n=1332) were screened with Illumina technology. For replication, three European cohorts comprising 1650 patients with non-alcoholic CP and 6695 controls originating from the same countries were used.ResultsWe replicated previously reported risk loci CLDN2-MORC4, CTRC, PRSS1-PRSS2 and SPINK1 in alcoholic CP patients. We identified CTRB1-CTRB2 (chymotrypsin B1 and B2) as a new risk locus with lead single-nucleotide polymorphism (SNP) rs8055167 (OR 1.35, 95% CI 1.23 to 1.6). We found that a 16.6 kb inversion in the CTRB1-CTRB2 locus was in linkage disequilibrium with the CP-associated SNPs and was best tagged by rs8048956. The association was replicated in three independent European non-alcoholic CP cohorts of 1650 patients and 6695 controls (OR 1.62, 95% CI 1.42 to 1.86). The inversion changes the expression ratio of the CTRB1 and CTRB2 isoforms and thereby affects protective trypsinogen degradation and ultimately pancreatitis risk.ConclusionAn inversion in the CTRB1-CTRB2 locus modifies risk for alcoholic and non-alcoholic CP indicating that common pathomechanisms are involved in these inflammatory disorders. | |
| 700 | 1 | a Kirsten, H4 aut |
| 700 | 1 | a Hegyi, E4 aut |
| 700 | 1 | a Kovacs, P4 aut |
| 700 | 1 | a Weiss, FU4 aut |
| 700 | 1 | a Laumen, H4 aut |
| 700 | 1 | a Lichtner, P4 aut |
| 700 | 1 | a Ruffert, C4 aut |
| 700 | 1 | a Chen, JM4 aut |
| 700 | 1 | a Masson, E4 aut |
| 700 | 1 | a Beer, S4 aut |
| 700 | 1 | a Zimmer, C4 aut |
| 700 | 1 | a Seltsam, K4 aut |
| 700 | 1 | a Alguel, H4 aut |
| 700 | 1 | a Buehler, F4 aut |
| 700 | 1 | a Bruno, MJ4 aut |
| 700 | 1 | a Bugert, P4 aut |
| 700 | 1 | a Burkhardt, R4 aut |
| 700 | 1 | a Cavestro, GM4 aut |
| 700 | 1 | a Cichoz-Lach, H4 aut |
| 700 | 1 | a Farre, A4 aut |
| 700 | 1 | a Frank, J4 aut |
| 700 | 1 | a Gambaro, G4 aut |
| 700 | 1 | a Gimpfl, S4 aut |
| 700 | 1 | a Grallert, H4 aut |
| 700 | 1 | a Griesmann, H4 aut |
| 700 | 1 | a Gruetzmann, R4 aut |
| 700 | 1 | a Hellerbrand, C4 aut |
| 700 | 1 | a Hegyi, P4 aut |
| 700 | 1 | a Hollenbach, M4 aut |
| 700 | 1 | a Iordache, S4 aut |
| 700 | 1 | a Jurkowska, G4 aut |
| 700 | 1 | a Keim, V4 aut |
| 700 | 1 | a Kiefer, F4 aut |
| 700 | 1 | a Krug, S4 aut |
| 700 | 1 | a Landt, O4 aut |
| 700 | 1 | a Leo, M4 aut |
| 700 | 1 | a Lerch, MM4 aut |
| 700 | 1 | a Levy, P4 aut |
| 700 | 1 | a Loeffler, M4 aut |
| 700 | 1 | a Loehr, Mu Karolinska Institutet4 aut |
| 700 | 1 | a Ludwig, M4 aut |
| 700 | 1 | a Macek, M4 aut |
| 700 | 1 | a Malats, N4 aut |
| 700 | 1 | a Malecka-Panas, E4 aut |
| 700 | 1 | a Malerba, G4 aut |
| 700 | 1 | a Mann, K4 aut |
| 700 | 1 | a Mayerle, J4 aut |
| 700 | 1 | a Mohr, S4 aut |
| 700 | 1 | a Morsche, RHM4 aut |
| 700 | 1 | a Motyka, M4 aut |
| 700 | 1 | a Mueller, S4 aut |
| 700 | 1 | a Mueller, T4 aut |
| 700 | 1 | a Noethen, MM4 aut |
| 700 | 1 | a Pedrazzoli, S4 aut |
| 700 | 1 | a Pereira, SP4 aut |
| 700 | 1 | a Peters, A4 aut |
| 700 | 1 | a Pfuetzer, R4 aut |
| 700 | 1 | a Real, FX4 aut |
| 700 | 1 | a Rebours, V4 aut |
| 700 | 1 | a Ridinger, M4 aut |
| 700 | 1 | a Rietschel, M4 aut |
| 700 | 1 | a Roesmann, E4 aut |
| 700 | 1 | a Saftoiu, A4 aut |
| 700 | 1 | a Schneider, A4 aut |
| 700 | 1 | a Schulz, HU4 aut |
| 700 | 1 | a Soranzo, N4 aut |
| 700 | 1 | a Soyka, M4 aut |
| 700 | 1 | a Simon, P4 aut |
| 700 | 1 | a Skipworth, J4 aut |
| 700 | 1 | a Stickel, F4 aut |
| 700 | 1 | a Strauch, K4 aut |
| 700 | 1 | a Stumvoll, M4 aut |
| 700 | 1 | a Testoni, PA4 aut |
| 700 | 1 | a Toenjes, A4 aut |
| 700 | 1 | a Werner, L4 aut |
| 700 | 1 | a Werner, J4 aut |
| 700 | 1 | a Wodarz, N4 aut |
| 700 | 1 | a Ziegler, M4 aut |
| 700 | 1 | a Masamune, A4 aut |
| 700 | 1 | a Moessner, J4 aut |
| 700 | 1 | a Ferec, C4 aut |
| 700 | 1 | a Michl, P4 aut |
| 700 | 1 | a Drenth, JPH4 aut |
| 700 | 1 | a Witt, H4 aut |
| 700 | 1 | a Scholz, M4 aut |
| 700 | 1 | a Sahin-Toth, M4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t Gutd : BMJg 67:10, s. 1855-1863q 67:10<1855-1863x 1468-3288x 0017-5749 |
| 856 | 4 | u https://gut.bmj.com/content/gutjnl/67/10/1855.full.pdf |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:139220169 |
| 856 | 4 8 | u https://doi.org/10.1136/gutjnl-2017-314454 |
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- Rosendahl, J
- Kirsten, H
- Hegyi, E
- Kovacs, P
- Weiss, FU
- Laumen, H
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- Lichtner, P
- Ruffert, C
- Chen, JM
- Masson, E
- Beer, S
- Zimmer, C
- Seltsam, K
- Alguel, H
- Buehler, F
- Bruno, MJ
- Bugert, P
- Burkhardt, R
- Cavestro, GM
- Cichoz-Lach, H
- Farre, A
- Frank, J
- Gambaro, G
- Gimpfl, S
- Grallert, H
- Griesmann, H
- Gruetzmann, R
- Hellerbrand, C
- Hegyi, P
- Hollenbach, M
- Iordache, S
- Jurkowska, G
- Keim, V
- Kiefer, F
- Krug, S
- Landt, O
- Leo, M
- Lerch, MM
- Levy, P
- Loeffler, M
- Loehr, M
- Ludwig, M
- Macek, M
- Malats, N
- Malecka-Panas, E
- Malerba, G
- Mann, K
- Mayerle, J
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- Morsche, RHM
- Motyka, M
- Mueller, S
- Mueller, T
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- Pfuetzer, R
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- Schulz, HU
- Soranzo, N
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- Simon, P
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- Stickel, F
- Strauch, K
- Stumvoll, M
- Testoni, PA
- Toenjes, A
- Werner, L
- Werner, J
- Wodarz, N
- Ziegler, M
- Masamune, A
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- Michl, P
- Drenth, JPH
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