Genetic Susceptibility in Acute Pancreatitis Genotyping of GSTM1, GSTT1, GSTP1, CASP7, CASP8, CASP9, CASP10, LTA, TNFRSF1B, and TP53 Gene Variants
Genetic Susceptibility in Acute Pancreatitis Genotyping of GSTM1, GSTT1, GSTP1, CASP7, CASP8, CASP9, CASP10, LTA, TNFRSF1B, and TP53 Gene Variants
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DOI：
10.1097/mpa.0000000000000707
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发表时间：
2017-01-01
期刊：
影响因子：
2.9
通讯作者：
Rueff, Jose
中科院分区：
文献类型：
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作者：
Martins, Francisco d'Oliveira;Gomes, Bruno Costa;Rueff, Jose
目的：基因检测在急性胰腺炎（AP）的诊断和预后中发挥重要作用，指导有效的治疗干预。我们假设凋亡和氧化应激基因的遗传多态性可能决定ap的发生率或严重程度。我们在葡萄牙白人人群（133例AP患者和232例年龄和性别匹配的健康对照）中进行了一项基于医院的病例对照研究，以评估氧化应激（GSTM1、GSTT1、GSTP1）和凋亡基因（CASP7、CASP8、CASP9、CASP10、LTA、TNFRSF1B、TP53）中15个基因多态性（2个缺失和13个单核苷酸多态性[snp]）在AP中的作用。AP的标准是腹部疼痛、高淀粉酶血症和增强对比计算机断层扫描。结果：GSTM1的存在与AP易感性增加有关，GSTP1 Val105Ile SNP与男性AP风险增加有关。CASP9 Phe136Leu/Phe136Phe snp（杂合子）增加轻度AP的风险（优势比3.616,95%可信区间1.157 ~ 11.364,P < 0.05），而CASP9 Ala28Val纯合子基因型降低轻度AP的风险（优势比0.296,95%可信区间0.091 ~ 0.963,P < 0.05）。结论：我们的研究结果表明GSTM1、GSTP1和CASP9的变异可能影响AP的风险。
Objectives: Genetic testing could play a critical role in diagnosis and prognosis of acute pancreatitis (AP) and guide effective therapeutic interventions. We hypothesized that genetic polymorphisms in apoptosis and oxidative stress genes could determine incidence or severity in AP.Methods: We conducted a hospital-based case-control study in a white Portuguese population (133 AP patients and 232 age-and sex-matched healthy controls) to evaluate the role of 15 gene polymorphisms (2 deletions and 13 single nucleotide polymorphisms [SNPs]) in oxidative stress (GSTM1, GSTT1, GSTP1) and apoptosis genes (CASP7, CASP8, CASP9, CASP10, LTA, TNFRSF1B, TP53) in AP. Criteria for AP were abdominal pain, hyperamylasemia, and contrast-enhanced computed tomography.Results: The presence of GSTM1 is associated with increased susceptibility for AP, and the GSTP1 Val105Ile SNP is associated with an increased risk for AP in men. CASP9 Phe136Leu/Phe136Phe SNPs (heterozygotes) increases the risk for mild AP (odds ratio, 3.616; 95% confidence interval, 1.151-11.364; P < 0.05), whereas the homozygotic genotype of CASP9 Ala28Val decreases risk for mild AP (odds ratio, 0.296; 95% confidence interval, 0.091-0.963; P < 0.05).Conclusions: Our results suggest that variations in GSTM1, GSTP1, and CASP9 may influence risk for AP.