背景:随着新的疾病相关基因的研究和进一步破译相关分子,对类风湿关节炎(RA)病理生理学的理解向前迈出了重要一步。像人类白细胞抗原(HLA)-DRB1和PTPN221858T这样的基因变体是RA的个体危险因素。它也是关节破坏进展速度和自身免疫性疾病如RA的临床表现的危险因素。这项研究的重点是使用疾病活动性评分(DAS)和已招募的此类基因的普遍等位基因的分布频率,找出染色体区域1q21-23与RA的关联及其与疾病严重程度的关系印度患者/对照组,特别是拉贾斯坦邦西北部。
方法:这是一项病例对照研究,其中包括根据2010年美国风湿病学会(ACR)和欧洲抗风湿病联盟(EULAR)修订的门诊(OPD)和住院(IPD)患者的RA标准诊断为RA的每位16岁及以上的RA患者。在SardarPatel医学院(SPMC)抽取研究人群的血液样本,Bikaner(风湿病OPD),在Birla技术与科学研究所(BITS)的合作下,海得拉巴(生物科学系),2009年7月至2012年1月。考虑到纳入和排除标准,总共选择了100个对照(没有任何既往疾病史)和135个病例。临床数据以及全血细胞计数等实验室参数,血清电解质(钠,钾,钙,和氯离子),血糖,血尿素与血清肌酐,乳酸脱氢酶(LDH)同工酶测定,血清谷草转氨酶(SGOT)/血清谷丙转氨酶(SGPT)比值,血清γ-谷氨酰转移酶(GGT)水平,血清淀粉酶,动脉血气(ABG),对患者的总血清蛋白进行评估和记录.
结果:我们的研究显示对照组的平均年龄为45.11±4.12岁。病例组和对照组在任何临床变量上都没有显着差异。59%的病例表现为关节畸形。在病例中,D1S498多态性的等位基因频率在大小198、204、208和210中显著,而在大小192、196、200、202和206中不显著。在病例和对照中,D1S318多态性的等位基因频率未发现相关性。
结论:更大的队列研究将允许更好地基因组阐明临床定义的中间表型,根据疾病的自身免疫起源和患者的不同症状在RA患者中进行评估。遗传分子研究可以成为对这种逐渐衰弱的疾病采用有效的个性化治疗的里程碑。如何引用这篇文章:GauriLA,MeenaMK,辛格·U,etal.染色体1Q21-23区与类风湿关节炎的相关性及其与疾病严重程度的相关性研究。JAssoc印度医师2023;71(9):28-32。
BACKGROUND: The understanding of the pathophysiology of rheumatoid arthritis (RA) has taken a major step forward with the research of new illness-related genes and further deciphering the involved molecular. Gene variants like human leukocyte antigen (HLA)-DRB1 and PTPN22 1858T act as individual risk factors for RA. It also serves as a risk factor for the rate of progression of joint destruction and clinical manifestations in autoimmune diseases like RA. The focus of this study is to find out the association of chromosomal region 1q21-23 with RA and its connection with disease severity using the disease activity score (DAS) and distribution frequency of the prevalent alleles of such genes in an already recruited group of patients/controls of India, specifically Northwest Rajasthan.
METHODS: This was a case-control study wherein every patient of RA aged 16 years and above diagnosed with RA as per the 2010 American College of Rheumatology (ACR) and the European League against Rheumatism (EULAR) revised criteria for RA in Outpatient Department (OPD) and Inpatient Department (IPD) patients were included. Blood samples of the study population were drawn at Sardar Patel Medical College (SPMC), Bikaner (rheumatology OPD), along with the cooperation of Birla Institute of Technology and Science (BITS), Hyderabad (Department of Biological Sciences) from July 2009 to January 2012. A total of 100 controls (without any previous history of disease) and 135 cases were selected considering inclusion and exclusion criteria. Clinical data along with laboratory parameters like complete blood count, serum electrolytes (sodium, potassium, calcium, and chlorine ions), blood sugar, blood urea with serum creatinine, lactate dehydrogenase (LDH) isoenzymes assay, serum glutamic-oxaloacetic transaminase (SGOT)/serum glutamic pyruvic transaminase (SGPT) ratio, serum γ-glutamyl transferase (GGT) level, serum amylase, arterial blood gas (ABG), total serum proteins were evaluated and recorded from the patients.
RESULTS: Our study showed control group has a mean age of 45.11 + 4.12 years. The case and control groups did not have significant differences in any of the clinical variables. 59% of cases show joint deformity. Allelic frequencies of the D1S498 polymorphism in cases were found significant in sizes 198, 204, 208, and 210, while it was found insignificant in sizes 192, 196, 200, 202, and 206. No correlation was found in allelic frequencies of the D1S318 polymorphism in cases and controls.
CONCLUSIONS: Bigger cohort studies will allow better genomic elucidation of clinically defined intermediate phenotypes evaluated in RA patients by virtue of the autoimmune origin of the disease and its diverse symptoms in patients. Genetic-molecular studies can be a milestone for adopting effective personalized treatment for such progressively debilitating diseases. How to cite this article: Gauri LA, Meena MK, Singh U, et al. Study of Association of Chromosomal Region 1Q21-23 with Rheumatoid Arthritis and Their Correlation with Severity of Disease. J Assoc Physicians India 2023;71(9):28-32.