No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations
No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations
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DOI：
10.1053/j.gastro.2016.02.071
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发表时间：
2016-06-01
期刊：
影响因子：
29.4
通讯作者：
Liao, Zhuan
中科院分区：
文献类型：
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作者：
Zou, Wen-Bin;Boulling, Arnaud;Liao, Zhuan
一项针对欧洲血统患者的病例对照研究发现，羧基酯脂肪酶基因（CEL）及其假基因CELP（称为CEL-HYB）之间的杂合等位基因由CEL内含子10和CELP内含子100之间的非等位基因同源重组产生，会增加对慢性胰腺炎的易感性。我们试图在来自中国、日本和印度的3个独立队列中重复这一发现，但未能在这些人群中检测到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个亚洲人群中均发现了另一种杂合等位基因（CEL-HYB 2）（合并携带者频率为1.7%），但与慢性胰腺炎无关。
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 100, 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.