Relationship of YWHAH Polymorphisms to Rheumatoid Arthritis Disease Severity

Keesler Air Force Base Medical Center

Status: Completed

Conditions: Rheumatoid Arthritis

Treatments: Diagnostic Test: TaqMan SNP analysis

Study type: Observational

Funder types: Other U.S. Federal agency

Identifiers

NCT03190746

FKE 20150004H

Details and patient eligibility

About

It is hypothesized that one or several of these 6 single nucleotide polymorphisms (SNPs) (rs2246704, rs2853884, rs3747158, rs4820059, rs7291050, and rs933226) in the YWHAH gene could be related to RA disease severity.

Full description

Rheumatoid Arthritis (RA) is a chronic inflammatory arthritis of substantial morbidity. Serum biomarkers such as Rheumatoid Factor and anti-cyclic citrullinated peptide assist with disease diagnosis and prognostic assessment of future disease activity. 14-3-3 eta is a relatively new RA serum biomarker. The 14-3-3 family of proteins were named based on chromatographic elution properites and are ubiquitously expressed intracellular chaperon proteins. The isoform relevant in RA is 14-3-3 eta. 14-3-3 eta provides additional information about RA to the clinician-it assists in making diagnosis, provides prognostic assessment of disease severity, and provides insight regarding response to therapy. Thus, 14-3-3 eta serves as an important mechanistic biomarker informing the clinician about patient's RA.

14-3-3 eta is the product of the YWHAH gene, located on chromosome 22q12.3. It is about 13 kilobase long, consisting of two exons separated by a single intron. This gene has been implicated in linkage studies to bipolar disorder and schizophrenia. Six YWHAH single nucleotide polymorphisms (SNPs) were identified in a prior study: rs2246704, rs2853884, rs3747158, rs4820059, rs7291050, and rs933226. rs2246704 was associated with bipolar disorder (Odds Ratio (OR) 1.31, p=0.03) and psychotic BP (OR 1.66, p=0.002). All six SNPs are intronic. It was hypothesized that one or several of these 6 single nucleotide polymorphisms (SNPs) could be related to RA disease severity.

Enrollment: 71 patients

Sex: All

Ages: 18 to 99 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Have RA per 1987 or 2010 American College of Rheumatology Classification Criteria

Exclusion criteria

• None

Trial design

71 participants in 2 patient groups

No SNP

Description:

Subjects have two copies of the wild type gene

Treatment:

Diagnostic Test: TaqMan SNP analysis

SNP present

Description:

Subjects have one or two copies of the SNP

Treatment:

Diagnostic Test: TaqMan SNP analysis