Chatzikyriakidou Anthoula, Voulgari Paraskevi V, Drosos Alexandros A
Laboratory of Medical Biology - Genetics, Medical School, Aristotle University, Thessaloniki, Greece.
Department of Internal Medicine, Rheumatology Clinic, Medical School, University of Ioannina, Ioannina, Greece.
Arch Rheumatol. 2017 Sep 13;33(1):33-38. doi: 10.5606/ArchRheumatol.2018.6389. eCollection 2018 Mar.
This study aims to examine the following functional polymorphisms in rheumatoid arthritis (RA) susceptibility: (i) the 587C>T of kininogen gene, (ii) the 287 bp Alu repeat insertion of angiotensin converting enzyme gene, (iii) the 9 bp insertion of bradykinin receptor 2 gene, (iv) the -58T>C of bradykinin receptor 2 gene, and (v) the -699G>C of bradykinin receptor 1 gene.
The study included 136 RA patients (27 males; 109 females; mean age 60.8 years; range 39 to 75 years) and 149 ethnic matching controls (30 males, 119 females; mean age 56.2 years; range 35 to 78 years). Polymerase chain reaction coupled with restriction assay was performed for 587C>T, -58T>C, and -699G>C.
Rheumatoid arthritis patients and controls carried the wild type allele of 587C>T; therefore, produced the high molecular weight kininogen. No significant difference was observed in genotype or allele distribution of the studied functional polymorphisms between RA patients and controls.
Kinin-kallikrein system related genes might not be major RA susceptibility loci.
本研究旨在检测类风湿关节炎(RA)易感性中的以下功能多态性:(i)激肽原基因的587C>T;(ii)血管紧张素转换酶基因的287 bp Alu重复序列插入;(iii)缓激肽受体2基因的9 bp插入;(iv)缓激肽受体2基因的-58T>C;以及(v)缓激肽受体1基因的-699G>C。
本研究纳入了136例RA患者(27例男性;109例女性;平均年龄60.8岁;范围39至75岁)和149例种族匹配的对照者(30例男性,119例女性;平均年龄56.2岁;范围35至78岁)。对587C>T、-58T>C和-699G>C进行聚合酶链反应结合限制性分析。
类风湿关节炎患者和对照者携带587C>T的野生型等位基因;因此,产生高分子量激肽原。在RA患者和对照者之间,所研究的功能多态性的基因型或等位基因分布未观察到显著差异。
激肽-激肽释放酶系统相关基因可能不是主要的RA易感位点。