Homozygosity of short VNTR lengths in the CEL gene may confer susceptibility to idiopathic chronic pancreatitis
Homozygosity of short VNTR lengths in the CEL gene may confer susceptibility to idiopathic chronic pancreatitis
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DOI：
10.1016/j.pan.2021.09.001
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发表时间：
2021-10-19
期刊：
影响因子：
3.6
通讯作者：
Liao, Zhuan
中科院分区：
文献类型：
--
作者：
Mao, Xiao-Tong;Deng, Shun-Jiang;Liao, Zhuan
目的：羧酸酯脂肪酶（CEL）基因含有可变数目串联重复序列（VNTR）区。目前尚不清楚CEL VNTR中的重复次数是否与胰腺疾病的风险有关。本研究的目的是在中国患者队列中研究CEL VNTR长度是否与特发性慢性胰腺炎（ICP）、酒精性慢性胰腺炎（ACP）或胰腺癌相关。方法：在诊断为ICP（n = 771）、ACP（n = 222）或胰腺癌（n = 263）的患者和健康对照（n = 927）中对CEL VNTR进行基因分型。使用PCR和DNA片段分析相结合的筛选方法确定CEL VNTR长度。结果如下：总体而言，CEL VNTR长度范围为5至22个重复，其中16个重复的等位基因（“正常”大小，N）占所有观察到的等位基因的73.82%。VNTR等位基因频率和基因型分布在健康对照组与ACP和胰腺癌患者之间无显著差异。ICP组的等位基因频率与对照组无显著差异，而SS基因型（5-15个重复的纯合性）的频率在患者中（4.67%）显著高于对照组（1.94%）（p = 0.0014; OR = 2.47; 95%CI = 1.39-4.39）。结论：CEL VNTR长度与ACP和胰腺癌无关。然而，短VNTR长度的纯合性可能赋予ICP的易感性。(c)2021作者由爱思唯尔公司出版。这是一篇开放获取的文章，使用CC BY许可证（http：//creativecommons.org/licenses/by/4.0/）。
Objective: The carboxyl-ester lipase (CEL) gene contains a variable number of tandem repeats (VNTR) region. It remains unclear whether the number of repeats in the CEL VNTR is related to the risk of pancreatic diseases. The aim of this study was to investigate whether CEL VNTR length is associated with idiopathic chronic pancreatitis (ICP), alcoholic chronic pancreatitis (ACP), or pancreatic cancer in a cohort of Chinese patients. Methods: CEL VNTRs were genotyped in patients diagnosed with ICP (n = 771), ACP (n = 222), or pancreatic cancer (n = 263), and in healthy controls (n = 927). CEL VNTR lengths were determined using a screening method combining PCR and DNA fragment analysis. Results: Overall, the CEL VNTR lengths ranged from 5 to 22 repeats, with the 16-repeat allele ('normal' size, N) accounting for 73.82% of all observed alleles. The VNTR allele frequencies and genotype distributions were not significantly different between healthy controls and patients with ACP or pancreatic cancer. For the ICP group, allele frequencies did not differ significantly from the controls, while the frequency of the SS genotype (homozygosity for 5-15 repeats) was significantly higher in the patients (4.67%) than in the controls (1.94%) (p = 0.0014; OR = 2.47; 95% CI = 1.39-4.39). Conclusions: There were no associations between the CEL VNTR length and ACP or pancreatic cancer. However, homozygosity for short VNTR lengths may confer susceptibility to ICP. (c) 2021 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).