波兰儿科慢性胰腺炎患者羧基酯脂肪酶（CEL-HYB1）的杂合子 1 型。
The hybrid allele 1 of carboxyl-ester lipase (CEL-HYB1) in Polish pediatric patients with chronic pancreatitis.
机构信息
Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
出版信息
Pancreatology. 2019 Jun;19(4):531-534. doi: 10.1016/j.pan.2019.04.006. Epub 2019 Apr 26.
OBJECTIVES
It has previously been reported in a European case-control study with patients from Germany and France that CEL-HYB1, a hybrid allele of the carboxyl ester lipase (CEL) gene and its pseudogene CELP, increases susceptibility to chronic pancreatitis (CP). Here, we aimed to replicate this finding in Polish pediatric patients with CP.
METHOD
The distribution of the CEL-HYB1 allele in a CP pediatric cohort (n = 147, median age at CP onset 7.6 years) with no history of alcohol/smoking abuse was compared with ethnically matched healthy controls (n = 500, median age 46 years). Screening was performed using long-range PCR followed by agarose gel-electrophoresis.
RESULTS
We observed no significant difference in the carrier frequency of the CEL-HYB1 allele between CP patients (7/147, 4.8%) and controls (12/500, 2.4%; P = 0.16).
CONCLUSIONS
This study found no statistically significant association between CEL-HYB1 and chronic pancreatitis in a cohort of Polish pediatric CP patients.
目的
先前在一项涉及德国和法国患者的欧洲病例对照研究中报道，羧基酯脂肪酶（CEL）基因的杂合子 CEL-HYB1 及其假基因 CELP 增加了慢性胰腺炎（CP）的易感性。在此，我们旨在复制波兰儿科 CP 患者的这一发现。
方法
比较无酒精/吸烟滥用史的 CP 儿科队列（n=147，CP 发病中位年龄 7.6 岁）与在种族上相匹配的健康对照组（n=500，中位年龄 46 岁）中 CEL-HYB1 等位基因的分布。使用长距离 PCR 后进行琼脂糖凝胶电泳进行筛选。
结果
我们未观察到 CP 患者（7/147，4.8%）与对照组（12/500，2.4%；P=0.16）中 CEL-HYB1 等位基因携带者频率存在显著差异。
结论
本研究在波兰儿科 CP 患者队列中未发现 CEL-HYB1 与慢性胰腺炎之间存在统计学显著关联。
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