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Mitochondrial haplogroups in patients with rheumatoid arthritis: No association with disease and disease manifestations.

ABSTRACT: To describe the distribution of specific mitochondrial DNA (mtDNA) haplogroups (hgs) in a cohort of patients with rheumatoid arthritis (RA).Two-hundred nineteen consecutive patients with RA had mtDNA isolated from their blood, sequenced and haplotyped. Patients were diagnosed according to the American College of Rheumatology (ACR)/European league against Rheumatism (EULAR) criteria. Demographic and clinical data were retrieved from the Danish nationwide database (DANBIO). Logistic regression analyses were performed to test for associations.One-hundred eighty-four patients were eligible for analysis. Haplogroup frequencies were: H (n = 88; 47.8%), U (n = 37; 20.1%), T (n = 22; 12.0%), J (n = 16; 8.7%), K (n = 11; 5.9%), HV (n = 6; 3.3%) and V (n = 4; 2.2%). The distribution of individual hgs was identical to the background population. Radiographic erosions were significantly associated with hg clusters JT (OR = 2.37, 95% confidence interval (CI): 1.07-5.53, p = 0.038). Significantly fewer patients from hg cluster JT received biological treatment (OR = 0.17, 95% CI: 0.03-0.87, p = 0.038). Albeit, none of these associations were significant when corrected for multiple tests.There was no significant association between mtDNA hgs and presence of RA or disease manifestations. There was an, albeit insignificant, overrepresentation of patients with hg JT among patients with erosive disease; however, slightly fewer patients in the JT group were treated with biological drugs.

SUBMITTER: Duhn PH

PROVIDER: S-EPMC5737896 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Mitochondrial haplogroups in patients with rheumatoid arthritis: No association with disease and disease manifestations.

Duhn Pernille Hurup PH Sode Jacob J Hagen Christian Munch CM Christiansen Michael M Locht Henning H

PloS one 20171220 12

<h4>Objective</h4>To describe the distribution of specific mitochondrial DNA (mtDNA) haplogroups (hgs) in a cohort of patients with rheumatoid arthritis (RA).<h4>Methods</h4>Two-hundred nineteen consecutive patients with RA had mtDNA isolated from their blood, sequenced and haplotyped. Patients were diagnosed according to the American College of Rheumatology (ACR)/European league against Rheumatism (EULAR) criteria. Demographic and clinical data were retrieved from the Danish nationwide database ...[more]

PMID: 29261674

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Project description:Cutaneous manifestations are fairly common in rheumatoid arthritis (RA) and they can help in early diagnosis, prompt treatment, and hence reduced morbidity from the disease.The objective of the present study was to find out the different patterns of dermatoses in a group of patients with RA from Eastern India.Consecutive patients fulfilling the American Rheumatism Association 1987 revised criteria for the classification of RA and who had different dermatoses were included in this cross-sectional study done over a period of 8 years in a tertiary care hospital in Eastern India. Thorough clinical examination and appropriate laboratory investigations were performed as needed. Data were recorded in a predesigned schedule, and appropriate statistical analysis was done.We studied 111 evaluable patients with an age range of 19-71 years and a female to male ratio of 7:1. The mean disease duration of RA was 6.5 years. Cutaneous infections as a group was the most common mucocutaneous manifestation (34.2%) followed by xerosis including ichthyotic skin changes (27%), pigmented purpuric dermatoses (14.4%), leg ulcer (9.9%), periungual telangiectasia (9.9%), rheumatoid nodules (RNs) (8.1%), purpura and ecchymoses (7.2%), small vessel vasculitis in (7.2%), corn and callosities (6.3%), palmar erythema (4.5%), and neutrophilic dermatosis (4.5%). Raynaud's phenomenon was found in 3.6% patients and panniculitis in (3.6%) patients. Rheumatoid factor (RF) and anti-cyclic citrullinated peptides antibody were positive in 74.8% and 88.3% patients, respectively. No statistically significant difference of incidence of leg ulcer, small vessel vasculitis, RN, or Raynaud's phenomenon could be noted between RF positive and negative groups.Being an institution-based study, the study findings may not reflect the true situation in the community which remained a limitation of this study.While some of the features of this study were analogous to Western data, other features showed discordance which may be due to ethnic variations among the patients with RA.

Project description:IntroductionRheumatoid arthritis (RA) is an autoimmune disease of unknown etiology that leads to disability due to articular and extra-articular damage. RA prevalence is variable. The disease is most common among females with a 3 : 1 ratio. The interaction of environmental and host factors contributes to RA development. Currently, the genome-wide association studies (GWAS) give the opportunity to uncover the RA genetic background. Anticitrullinated peptide antibody (ACPA) is a highly specific RA antibody, associated with poor prognosis and severe course of RA, and regulated by numerous genes. Our study is aimed at investigating whether there are any clinical and genetic aspects correlate with ACPA presence in Kazakhstani patients with RA. Indeed, the available studies on this subject are focused on Caucasian and East Asian populations (mainly Japanese and Chinese), and there are scarce data from Central Asia.MethodsOur study included 70 RA patients. Patients' blood samples were collected and genotyped for 14 SNPs by real-time polymerase chain reaction (RT-PCR). General examination, anamnestic, and clinical and laboratory data collection were carried out. Statistical analysis was performed using R statistics. Results and Conclusion. Our study revealed a significant association of ACPA positivity with Fc receptor-like 3 (FCRL3) and ACPA negativity with signal transducer and activator of transcription 4 (STAT4) genes, but not with T cell activation Rho GTPase activating protein (TAGAP). In addition, ACPA positivity was associated with radiographic progression, rheumatoid factor (RF), erythrocyte sedimentation rate (ESR), age of RA onset, the patient global assessment, body mass index (BMI), and Gamma globulin.ConclusionRemained 11 earlier identified significantly associated in Caucasian and Asian population SNPs were not replicated in our cohort. Further studies on larger cohorts are needed to confirm our findings with higher confidence levels and stronger statistical power.

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Mitochondrial haplogroups in patients with rheumatoid arthritis: No association with disease and disease manifestations.

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Mitochondrial haplogroups in patients with rheumatoid arthritis: No association with disease and disease manifestations.

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