van Esch A A J, de Vries E, Te Morsche R H M, van Oijen M G H, Jansen J B M J, Drenth J P H
Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
Neth J Med. 2011 Jul-Aug;69(7):330-4.
Pain is the major symptom of chronic pancreatitis. The role of genetics in pancreatic pain is unclear. Catechol-O-methyltransferase (COMT) regulates enkephalin levels and influences pain perception. The COMT gene contains functional polymorphisms that have been found to influence human pain perception. The aim of our study was to investigate COMT single-nucleotide polymorphisms (SNP s) and diplotypes in chronic pancreatitis patients and healthy controls.
We genotyped four COMT gene SNP s: c.1-98A>G (rs6269), c.186C>T (p.=) (rs4633), c.408C>G (p.=) (rs4818) and c.472G>A (p.Val158Met) (rs4680) using a dual-colour discrimination assay in 240 chronic pancreatitis patients and 445 controls. We generated five diplotypes with a frequency >0.5% and compared prevalence between patients and controls.
There was no significant association between the SNPs in the COMT gene and chronic pancreatitis. The diplotype ATCA÷ACCG was more prevalent in controls compared with patients (OR 0.48, 95% CI 0.24 to 0.93, p=0.03) where the most common diplotype GCGG ÷ATCA served as reference. However, after correction for multiple testing, this is not a significant difference. The distribution of other diplotypes was not significantly different between patients and controls.
COMT SNP s and diplotypes are not associated with chronic pancreatitis. As a consequence, our results do not support a significant role for the COMT gene in chronic pancreatitis.
疼痛是慢性胰腺炎的主要症状。遗传学在胰腺疼痛中的作用尚不清楚。儿茶酚-O-甲基转移酶（COMT）调节脑啡肽水平并影响疼痛感知。COMT基因包含已被发现会影响人类疼痛感知的功能性多态性。我们研究的目的是调查慢性胰腺炎患者和健康对照者中COMT单核苷酸多态性（SNP）和单倍型。
我们使用双色鉴别分析法对240例慢性胰腺炎患者和445例对照者的四个COMT基因SNP进行基因分型：c.1-98A>G（rs6269）、c.186C>T（p.=）（rs4633）、c.408C>G（p.=）（rs4818）和c.472G>A（p.Val158Met）（rs4680）。我们生成了五个频率>0.5%的单倍型，并比较了患者和对照者之间的流行率。
COMT基因中的SNP与慢性胰腺炎之间无显著关联。与患者相比，单倍型ATCA÷ACCG在对照者中更为普遍（比值比0.48，95%可信区间0.24至0.93，p=0.03），其中最常见的单倍型GCGG÷ATCA作为参照。然而，在进行多重检验校正后，这一差异并不显著。患者和对照者之间其他单倍型的分布没有显著差异。
COMT SNP和单倍型与慢性胰腺炎无关。因此，我们的结果不支持COMT基因在慢性胰腺炎中起重要作用。
