Department of Gastroenterology and Internal Medicine, Medical University of Warsaw.
Faculty of Medicine, Cardinal Stefan Wyszyński University in Warsaw, Collegium Medicum, Warsaw, Poland.
Eur J Gastroenterol Hepatol. 2021 Dec 1;33(1S Suppl 1):e431-e434. doi: 10.1097/MEG.0000000000002122.
Diverticulosis affects approximately 60% of population after 60th year of age. Diverticular disease is symptomatic diverticulosis characterized by abdominal pain, flatulence and bloating, and bowel habits change. Age and lifestyle are risk factors for diverticulosis, additionally genetic predisposition is postulated. The aim of the study was to assess whether tissue inhibitors of matrix metalloproteinase (TIMP) 1 rs4898 and TIMP2 rs8179090 genetic variants are related to colonic diverticulosis.
The study included 220 patients, 100 with colon diverticulosis diagnosed on colonoscopy and 120 controls. TIMP1 rs4898 and TIMP2 rs8179090 variants were examined using PCR-restriction fragments length polymorphism from a blood sample.
Allele T of TIMP1 rs4898 was more frequent in male patients with diverticulosis than in controls (P < 0.01), whereas in women there were no differences in its distribution, both in heterozygotes and homozygotes or in homozygotes separately, proving a recessive effect. TIMP2 s8179090 allele G frequency was 0.95 in cases and controls, there were no CC homozygotes identified, and no associations with diverticulosis showed.
TIMP1 rs4898 allele T may be a genetic determinant of the risk of diverticulosis in men.
憩室病影响大约 60 岁以后人群的 60%。憩室疾病是有症状的憩室病，其特征为腹痛、腹胀和肠习惯改变。年龄和生活方式是憩室病的危险因素，此外还推测存在遗传易感性。本研究旨在评估基质金属蛋白酶组织抑制剂 (TIMP) 1 rs4898 和 TIMP2 rs8179090 基因变异是否与结肠憩室病有关。
该研究纳入了 220 名患者，其中 100 名经结肠镜诊断为结肠憩室病，120 名为对照。通过从血液样本中进行 PCR-限制性片段长度多态性分析来检测 TIMP1 rs4898 和 TIMP2 rs8179090 变体。
在憩室病男性患者中，TIMP1 rs4898 的等位基因 T 比对照组更常见 (P < 0.01)，而女性在杂合子和纯合子或纯合子中，其分布没有差异，证明存在隐性效应。TIMP2 s8179090 等位基因 G 的频率在病例和对照组中均为 0.95，未发现 CC 纯合子，也未显示与憩室病有关。
TIMP1 rs4898 等位基因 T 可能是男性憩室病风险的遗传决定因素。
