Faculty of Medical Sciences, Department of Surgery, University of Kragujevac, Svetozara Markovica 69, Kragujevac, 34 000, Serbia.
Faculty of Medical Sciences, Department of Pharmacology and toxicology, University of Kragujevac, Svetozara Markovica 69, Kragujevac, 34 000, Serbia.
J Gastrointest Surg. 2019 May;23(5):975-981. doi: 10.1007/s11605-018-3913-8. Epub 2018 Aug 21.
Cystic fibrosis transmembrane conductance regulator (CFTR) is important for normal pancreatic function. Its coding gene is polymorphic, and the variations have been associated with the increased risk for acute pancreatitis. However, their impact on the disease severity is still unknown. Therefore, the aim of our study was to determine the functional importance of common cystic fibrosis transmembrane conductance regulator variations IVS8-poly T, R117H, and M470V for the severity of acute pancreatitis.
The study involved 98 acute pancreatitis patients. The severity of the disease was determined based on the Atlanta Classification system. IVS8-poly T, R117H, and M470V genotyping was performed using PCR-RFLP method.
IVS8-5T, IVS8-7T, IVS8-9T, and M470V alleles were found at the frequencies of 5.7, 75.5, 18.9, and 55.7%, respectively, while R117H was not observed. Among women, the severe form of the disease was more frequent in carriers of at least one IVS8 9T allele (RR for 9T/9T + 9T/non-9T vs. non-9T/non-9T: 2.115; 95% CI: 1.241-3.605). This association was not detected in men and was not affected by M470V. In addition, co-morbidities increased the severity of acute pancreatitis (p = 0.022).
Our study reveals that IVS8 poly-T variation affects severity of acute pancreatitis in women and that existent co-morbidities worsen the clinical course of the disease.
囊性纤维化跨膜电导调节因子（CFTR）对胰腺正常功能很重要。它的编码基因具有多态性，其变异与急性胰腺炎的风险增加有关。然而，它们对疾病严重程度的影响尚不清楚。因此，我们的研究目的是确定常见的囊性纤维化跨膜电导调节因子变异 IVS8-多 T、R117H 和 M470V 对急性胰腺炎严重程度的功能重要性。
本研究纳入了 98 例急性胰腺炎患者。根据亚特兰大分类系统确定疾病严重程度。采用 PCR-RFLP 法检测 IVS8-多 T、R117H 和 M470V 基因分型。
IVS8-5T、IVS8-7T、IVS8-9T 和 M470V 等位基因的频率分别为 5.7%、75.5%、18.9%和 55.7%，而 R117H 未被发现。在女性中，至少携带一个 IVS8 9T 等位基因的患者中，疾病的严重形式更为常见（9T/9T+9T/非 9T 与非 9T/非 9T 相比的 RR：2.115；95%CI：1.241-3.605）。这种关联在男性中未被发现，也不受 M470V 的影响。此外，并存疾病增加了急性胰腺炎的严重程度（p=0.022）。
本研究表明，IVS8 多 T 变异影响女性急性胰腺炎的严重程度，并存疾病会使疾病的临床病程恶化。
