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, Férec Claude, Shimosegawa Tooru, Chandak Giriraj R, Chen Jian-Min, Li Zhao-Shen, Liao Zhuan
Department of Gastroenterology, Changhai Hospital, the Second Military Medical University, Shanghai, China; Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France; Etablissement Français du Sang (EFS)-Bretagne, Brest, France; Shanghai Institute of Pancreatic Diseases, Shanghai, China.
Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France; Etablissement Français du Sang (EFS)-Bretagne, Brest, France; Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale (UBO), Brest, France.
Gastroenterology. 2016 Jun;150(7):1558-1560.e5. doi: 10.1053/j.gastro.2016.02.071. Epub 2016 Mar 3.
A hybrid allele between the carboxyl ester lipase gene (CEL) and its pseudogene, CELP (called CEL-HYB), generated by nonallelic homologous recombination between CEL intron 10 and CELP intron 10', was found to increase susceptibility to chronic pancreatitis in a case-control study of patients of European ancestry. We attempted to replicate this finding in 3 independent cohorts from China, Japan, and India, but failed to detect the CEL-HYB allele in any of these populations. The CEL-HYB allele might therefore be an ethnic-specific risk factor for chronic pancreatitis. An alternative hybrid allele (CEL-HYB2) was identified in all 3 Asian populations (1.7% combined carrier frequency), but was not associated with chronic pancreatitis.
在一项针对欧洲血统患者的病例对照研究中,发现羧基酯脂肪酶基因(CEL)与其假基因CELP之间的杂交等位基因(称为CEL-HYB)由CEL内含子10和CELP内含子10'之间的非等位基因同源重组产生,会增加患慢性胰腺炎的易感性。我们试图在中国、日本和印度的3个独立队列中重复这一发现,但在这些人群中均未检测到CEL-HYB等位基因。因此,CEL-HYB等位基因可能是慢性胰腺炎的种族特异性危险因素。在所有3个亚洲人群中均鉴定出另一种杂交等位基因(CEL-HYB2)(合并携带者频率为1.7%),但它与慢性胰腺炎无关。