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

被引：17
作者：
Tang, Xin-Ying [1 ,2 ]
Zou, Wen-Bin [1 ,2 ]
Masson, Emmanuelle [3 ,4 ]
Hu, Liang-Hao [1 ,2 ]
Ferec, Claude [3 ,4 ,5 ,6 ]
Chen, Jian-Min [3 ,4 ,6 ]
Li, Zhao-Shen [1 ,2 ]
Liao, Zhuan [1 ,2 ]
机构：
[1] Second Mil Med Univ, Changhai Hosp, Dept Gastroenterol Digest Endoscopy Ctr, Shanghai 200433, Peoples R China
[2] Shanghai Inst Pancreat Dis, Shanghai, Peoples R China
[3] INSERM, U1078, Brest, France
[4] Hop Morvan, CHU Brest, Lab Genet Mol & Histocompatibil, Brest, France
[5] Univ Bretagne Occidentale, Fac Med & Sci Sante, Brest, France
[6] EFS Bretagne, Brest, France
来源：
GUT | 2018年 / 67卷 / 07期
基金：
中国国家自然科学基金;
关键词：
VARIANTS; CPA1; CEL;
D O I：
10.1136/gutjnl-2017-315180
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
引用
收藏
页码：1368 / +
页数：2
相关论文
共 10 条
[1]   A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis [J].
Fjeld, Karianne ;
Weiss, Frank Ulrich ;
Lasher, Denise ;
Rosendahl, Jonas ;
Chen, Jian-Min ;
Johansson, Bente B. ;
Kirsten, Holger ;
Ruffert, Claudia ;
Masson, Emmanuelle ;
Steine, Solrun J. ;
Bugert, Peter ;
Cnop, Miriam ;
Gruetzmann, Robert ;
Mayerle, Julia ;
Moessner, Joachim ;
Ringdal, Monika ;
Schulz, Hans-Ulrich ;
Sendler, Matthias ;
Simon, Peter ;
Sztromwasser, Pawel ;
Torsvik, Janniche ;
Scholz, Markus ;
Tjora, Erling ;
Ferec, Claude ;
Witt, Heiko ;
Lerch, Markus M. ;
Njolstad, Pal R. ;
Johansson, Stefan ;
Molven, Anders .
NATURE GENETICS, 2015, 47 (05) :518-U121
[2]   Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway [J].
Hegyi, Eszter ;
Sahin-Toth, Miklos .
DIGESTIVE DISEASES AND SCIENCES, 2017, 62 (07) :1692-1701
[3]   PRSS1 copy number variants and promoter polymorphisms in pancreatitis: common pathogenetic mechanism, different genetic effects [J].
Masson, Emmanuelle ;
Chen, Jian-Min ;
Cooper, David N. ;
Ferec, Claude .
GUT, 2018, 67 (03) :591-+
[4]   Worldwide population differentiation at disease-associated SNPs [J].
Myles, Sean ;
Davison, Dan ;
Barrett, Jeffrey ;
Stoneking, Mark ;
Timpson, Nic .
BMC MEDICAL GENOMICS, 2008, 1 (1)
[5]   Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome [J].
Pang, Andy Wing Chun ;
Migita, Ohsuke ;
MacDonald, Jeffrey R. ;
Feuk, Lars ;
Scherer, Stephen W. .
HUMAN MUTATION, 2013, 34 (02) :345-354
[6]  
Rosendahl J, 2017, GUT, V2017
[7]   A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis [J].
Witt, Heiko ;
Sahin-Toth, Miklos ;
Landt, Olfert ;
Chen, Jian-Min ;
Kaehne, Thilo ;
Drenth, Joost P. H. ;
Kukor, Zoltan ;
Szepessy, Edit ;
Halangk, Walter ;
Dahm, Stefan ;
Rohde, Klaus ;
Schulz, Hans-Ulrich ;
Le Marechal, Cedric ;
Akar, Nejat ;
Ammann, Rudolf W. ;
Truninger, Kaspar ;
Bargetzi, Mario ;
Bhatia, Eesh ;
Castellani, Carlo ;
Cavestro, Giulia Martina ;
Cerny, Milos ;
Destro-Bisol, Giovanni ;
Spedini, Gabriella ;
Eiberg, Hans ;
Jansen, Jan B. M. J. ;
Koudova, Monika ;
Rausova, Eva ;
Macek, Milan, Jr. ;
Malats, Nuria ;
Real, Francisco X. ;
Menzel, Hans-Jurgen ;
Moral, Pedro ;
Galavotti, Roberta ;
Pignatti, Pier Franco ;
Rickards, Olga ;
Spicak, Julius ;
Zarnescu, Narcis Octavian ;
Bock, Wolfgang ;
Gress, Thomas M. ;
Friess, Helmut ;
Ockenga, Johann ;
Schmidt, Hartmut ;
Pfutzer, Roland ;
Lohr, Matthias ;
Simon, Peter ;
Weiss, Frank Ulrich ;
Lerch, Markus M. ;
Teich, Niels ;
Keim, Volker ;
Berg, Thomas .
NATURE GENETICS, 2006, 38 (06) :668-673
[8]   Variants in CPA1 are strongly associated with early onset chronic pancreatitis [J].
Witt, Heiko ;
Beer, Sebastian ;
Rosendahl, Jonas ;
Chen, Jian-Min ;
Chandak, Giriraj Ratan ;
Masamune, Atsushi ;
Bence, Melinda ;
Szmola, Richard ;
Oracz, Grzegorz ;
Macek, Milan, Jr. ;
Bhatia, Eesh ;
Steigenberger, Sandra ;
Lasher, Denise ;
Buehler, Florence ;
Delaporte, Catherine ;
Tebbing, Johanna ;
Ludwig, Maren ;
Pilsak, Claudia ;
Saum, Karolin ;
Bugert, Peter ;
Masson, Emmanuelle ;
Paliwal, Sumit ;
Bhaskar, Seema ;
Sobczynska-Tomaszewska, Agnieszka ;
Bak, Daniel ;
Balascak, Ivan ;
Choudhuri, Gourdas ;
Reddy, D. Nageshwar ;
Rao, G. Venkat ;
Thomas, Varghese ;
Kume, Kiyoshi ;
Nakano, Eriko ;
Kakuta, Yoichi ;
Shimosegawa, Tooru ;
Durko, Lukasz ;
Szabo, Andras ;
Schnur, Andrea ;
Hegyi, Peter ;
Rakonczay, Zoltan, Jr. ;
Pfuetzer, Roland ;
Schneider, Alexander ;
Groneberg, David Alexander ;
Braun, Markus ;
Schmidt, Hartmut ;
Witt, Ulrike ;
Friess, Helmut ;
Alguel, Hana ;
Landt, Olfert ;
Schuelke, Markus ;
Krueger, Renate .
NATURE GENETICS, 2013, 45 (10) :1216-U359
[9]   No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort [J].
Wu, Hao ;
Zhou, Dai-Zhan ;
Berki, Dorottya ;
Geisz, Andrea ;
Zou, Wen-Bin ;
Sun, Xiao-Tian ;
Hu, Liang-Hao ;
Zhao, Zhen-Hua ;
Zhao, An-Jing ;
He, Lin ;
Cooper, David N. ;
Ferec, Claude ;
Chen, Jian-Min ;
Li, Zhao-Shen ;
Sahin-Toth, Miklos ;
Liao, Zhuan .
HUMAN MUTATION, 2017, 38 (08) :959-963
[10]   No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations [J].
Zou, Wen-Bin ;
Boulling, Arnaud ;
Masamune, Atsushi ;
Issarapu, Prachand ;
Masson, Emmanuelle ;
Wu, Hao ;
Sun, Xiao-Tian ;
Hu, Liang-Hao ;
Zhou, Dai-Zhan ;
He, Lin ;
Fichou, Yann ;
Nakano, Eriko ;
Hamada, Shin ;
Kakuta, Yoichi ;
Kume, Kiyoshi ;
Isayama, Hiroyuki ;
Paliwal, Sumit ;
Mani, K. Radha ;
Bhaskar, Seema ;
Cooper, David N. ;
Ferec, Claude ;
Shimosegawa, Tooru ;
Chandak, Giriraj R. ;
Chen, Jian-Min ;
Li, Zhao-Shen ;
Liao, Zhuan .
GASTROENTEROLOGY, 2016, 150 (07) :1558-+
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