RORC Genetic Polymorphism of Rheumatoid Arthritis

NCT03615729 | Completed

• 1 other identifier: GPRA
• Study Type: observational
• Target: 89
• Locations: 0 countries
• Sites: N/A

Brief Summary

Three candidate single nucleotide polymorphisms in the RORC2 gene, rs9826 A/G, rs3790515 C/T and rs3828057 C/T were examined together with estimation of nuclear hormone retinoic acid receptor-related orphan receptor variant 2 serum levels to determine their possible association with susceptibility to and clinical phenotype of rheumatoid arthritis in Egyptian population.

Conditions

Genetic Predisposition to Disease

Keywords

Rheumatoid arthritis; Genetic polymorphism; RORc2 protein; T helper 17

Outcome Measures

Primary Outcomes (1)

• Detection of SNPs genetic polymorphisms in RORC gene in rheumatoid arthritis

  Taqman SNP genotyping of rs9826 A/G, rs3790515 C/T and rs3828057 C/T in rheumatoid arthritis patients and control group to detect any possible association between RORC genetic polymorphism and rheumatoid arthritis

  2 hours

Secondary Outcomes (1)

• Determination of serum Levels of RORc2

  3 hours

Study Arms (2)

Rheumatoid arthritis patients

A total of 55 rheumatoid arthritis patients diagnosed according to 2010 ACR / EULAR Rheumatoid Arthritis Classification Criteria recruited from Clinical Rheumatology unit, Internal Medicine, Assiut University Hospitals

controls

A total of 33 age and sex matched healthy controls randomly selected from healthy volunteers

Eligibility Criteria

• Age: 20 Years - 73 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

A total of 55 patients (with rheumatoid arthritis diagnosed according to 2010 ACR / EULAR Rheumatoid Arthritis Classification Criteria) were recruited from Clinical Rheumatology unit, Internal Medicine, Assiut University Hospitals and 34 healthy volunteers were included in the study. Age of both of patients and healthy controls are 45.13 ± 10.6 years with a median age 45 years (20-73 years) and 43.00 ± 11.1 years with a median age 43 years (20-65 years) respectively. The numbers of females and males in RA patients are 50 and 5, respectively, and those in controls are 31 and 3 respectively.

You may not qualify if:

• Patients with other connective tissue diseases \[e.g. systemic lupus erythematosis , systemic sclerosis, Behcet's disease,…etc\]
• Patients with other autoimmune diseases,
• Patients with genetic diseases were excluded from the study
• Patients with chronic liver or kidney diseases, . -

Sponsors & Collaborators

• Assiut University: lead

Related Publications (8)

• Ikeda S, Saijo S, Murayama MA, Shimizu K, Akitsu A, Iwakura Y. Excess IL-1 signaling enhances the development of Th17 cells by downregulating TGF-beta-induced Foxp3 expression. J Immunol. 2014 Feb 15;192(4):1449-58. doi: 10.4049/jimmunol.1300387. Epub 2014 Jan 15.

  PMID: 24431229 BACKGROUND

• Lee DM, Weinblatt ME. Rheumatoid arthritis. Lancet. 2001 Sep 15;358(9285):903-11. doi: 10.1016/S0140-6736(01)06075-5.

  PMID: 11567728 BACKGROUND

• Liao D, Hou S, Zhang J, Fang J, Liu Y, Bai L, Cao Q, Kijlstra A, Yang P. Copy number variants and genetic polymorphisms in TBX21, GATA3, Rorc, Foxp3 and susceptibility to Behcet's disease and Vogt-Koyanagi-Harada syndrome. Sci Rep. 2015 Apr 15;5:9511. doi: 10.1038/srep09511.

  PMID: 25873156 BACKGROUND

• Lim HW, Kang SG, Ryu JK, Schilling B, Fei M, Lee IS, Kehasse A, Shirakawa K, Yokoyama M, Schnolzer M, Kasler HG, Kwon HS, Gibson BW, Sato H, Akassoglou K, Xiao C, Littman DR, Ott M, Verdin E. SIRT1 deacetylates RORgammat and enhances Th17 cell generation. J Exp Med. 2015 May 4;212(5):607-17. doi: 10.1084/jem.20132378. Epub 2015 Apr 27.

  PMID: 25918343 BACKGROUND

• Liu HP, Cao AT, Feng T, Li Q, Zhang W, Yao S, Dann SM, Elson CO, Cong Y. TGF-beta converts Th1 cells into Th17 cells through stimulation of Runx1 expression. Eur J Immunol. 2015 Apr;45(4):1010-8. doi: 10.1002/eji.201444726. Epub 2015 Feb 11.

  PMID: 25605286 BACKGROUND

• Tesmer LA, Lundy SK, Sarkar S, Fox DA. Th17 cells in human disease. Immunol Rev. 2008 Jun;223:87-113. doi: 10.1111/j.1600-065X.2008.00628.x.

  PMID: 18613831 BACKGROUND

• Wolf AB, Caselli RJ, Reiman EM, Valla J. APOE and neuroenergetics: an emerging paradigm in Alzheimer's disease. Neurobiol Aging. 2013 Apr;34(4):1007-17. doi: 10.1016/j.neurobiolaging.2012.10.011. Epub 2012 Nov 16.

  PMID: 23159550 BACKGROUND

• Paradowska-Gorycka A, Stypinska B, Pawlik A, Romanowska-Prochnicka K, Haladyj E, Manczak M, Olesinska M. RORC2 Genetic Variants and Serum Levels in Patients with Rheumatoid Arthritis. Int J Mol Sci. 2016 Apr 1;17(4):488. doi: 10.3390/ijms17040488.

  PMID: 27043554 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

A total of 10 ml whole blood samples were obtained and were divided into two tubes; EDTA tube for genomic DNA extraction and serum-separating tubes for retinoic acid receptor-related orphan receptor variant 2 serum level determination by enzyme linked immunosorbant assay

MeSH Terms

Conditions

Genetic Predisposition to Disease; Arthritis, Rheumatoid

Condition Hierarchy (Ancestors)

Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Arthritis; Joint Diseases; Musculoskeletal Diseases; Rheumatic Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Autoimmune Diseases; Immune System Diseases

Study Officials

• Khaled M Hassanein, Professor

  Assiut University

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: principal investigator

Study Record Dates

• First Submitted: July 22, 2018
• First Posted: August 6, 2018
• Study Start: June 30, 2016
• Primary Completion: March 30, 2018
• Study Completion: June 30, 2018
• Last Updated: August 6, 2018

Record last verified: 2018-07

Data Sharing

• IPD Sharing: Will not share