Dataset Information

Association between IL-18 gene polymorphisms and biopsy-proven giant cell arteritis.

ABSTRACT: INTRODUCTION: The objective was to investigate the potential implication of the IL18 gene promoter polymorphisms in the susceptibility to giant-cell arteritis (GCA). METHODS: In total, 212 patients diagnosed with biopsy-proven GCA were included in this study. DNA from patients and matched controls was obtained from peripheral blood. Samples were genotyped for the IL18-137 G>C (rs187238), the IL18-607 C>A (rs1946518), and the IL18-1297 T>C (rs360719) gene polymorphisms with polymerase chain reaction, by using a predesigned TaqMan allele discrimination assay. RESULTS: No significant association between the IL18-137 G>C polymorphism and GCA was found. However, the IL18 -607 allele A was significantly increased in GCA patients compared with controls (47.8% versus 40.9% in patients and controls respectively; P = 0.02; OR, 1.32; 95% CI, 1.04 to 1.69). It was due to an increased frequency of homozygosity for the IL18 -607 A/A genotype in patients with GCA (20.4%) compared with controls (13.4%) (IL18 -607 A/A versus IL18 -607 A/C plus IL18 -607 C/C genotypes: P = 0.04; OR, 1.59; 95% CI, 1.02 to 2.46). Also, the IL18-1297 allele C was significantly increased in GCA patients (30.7%) compared with controls (23.0%) (P = 0.003; OR, 1.48; 95% CI, 1.13 to 1.95). In this regard, an increased susceptibility to GCA was observed in individuals carrying the IL18-1297 C/C or the IL18-1297 C/T genotypes compared with those carrying the IL18-1297 T/T genotype (IL18-1297 C/C plus IL18-1297 T/C versus IL18-1297 T/T genotype in GCA patients compared with controls: P = 0.005; OR, 1.61; 95% CI, 1.15 to 2.25). We also found an additive effect of the IL18 -1297 and -607 polymorphisms with TLR4 Asp299Gly polymorphism. The OR for GCA was 1.95 for combinations of genotypes with one or two risk alleles, whereas carriers of three or more risk alleles have an OR of 3.7. CONCLUSIONS: Our results show for the first time an implication of IL18 gene-promoter polymorphisms in the susceptibility to biopsy-proven GCA. In addition, an additive effect between the associated IL18 and TLR4 genetic variants was observed.

SUBMITTER: Palomino-Morales RJ

PROVIDER: S-EPMC2888200 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Association between IL-18 gene polymorphisms and biopsy-proven giant cell arteritis.

Palomino-Morales Rogelio J RJ Vazquez-Rodriguez Tomas R TR Torres Orlando O Morado Inmaculada C IC Castañeda Santos S Miranda-Filloy Jose A JA Callejas-Rubio Jose L JL Fernandez-Gutierrez Benjamin B Gonzalez-Gay Miguel A MA Martin Javier J

Arthritis research & therapy 20100323 2

<h4>Introduction</h4>The objective was to investigate the potential implication of the IL18 gene promoter polymorphisms in the susceptibility to giant-cell arteritis (GCA).<h4>Methods</h4>In total, 212 patients diagnosed with biopsy-proven GCA were included in this study. DNA from patients and matched controls was obtained from peripheral blood. Samples were genotyped for the IL18-137 G>C (rs187238), the IL18-607 C>A (rs1946518), and the IL18-1297 T>C (rs360719) gene polymorphisms with polymeras ...[more]

PMID: 20331879

Similar Datasets

Project description:IntroductionTemporal artery (TA) biopsy is commonly used for the diagnosis of giant cell arteritis (GCA). However, a positive biopsy is no longer mandatory for diagnosis. This study aims to correlate the histopathological findings of TA biopsies in suspected cases of GCA to the clinical presentation in an ophthalmic tertiary eye care center to draw useful conclusions and advocate the possible implementation of guidelines for TA biopsy.MethodsData was collected from patients' medical records including, demographics, clinical data, and histopathological findings and diagnosis. The 2022 American College of Rheumatology/ European Alliance of Associations for Rheumatology (ACR/EULAR) criteria have been used and partially adopted as a guide to compare the variables between TA biopsy-positive and negative groups as well as the TA biopsy-positive group and the group of patients with TA biopsy showing atherosclerosis.ResultsOut of the total 35 patients who underwent a TA biopsy during the period of 23 years, 22.9% of patients had histopathological findings consistent with GCA and 42.9% had TA atherosclerotic changes, while the remaining 34.3% had histologically unremarkable TA. The mean age of all patients was 66 ± 10.9 years. Slightly more than half were females (54.3%) and the remaining were males (45.7%). In the group with positive TA biopsies, the mean age was 71 ± 8.4 years with a higher female predominance (female-to-male ratio of 5:3). The mean diagnostic clinical score used in our study was higher (7.5 ± 2.33) in the GCA-positive group when compared to the other groups with statistical significance (mean of 4.85 ± 2.01 in patients with overall GCA-negative biopsies and 5.13 ± 2.10 in the group with atherosclerosis). Other three clinical variables that were found to be statistically significant in the GCA biopsy-positive group were scalp tenderness, jaw claudication, and optic nerve pallor.DiscussionThe mean age (71 ± 8.4 years) and the female predominance of GCA in our group of patients with positive TA biopsy (62.5%) was like other reports. In our study 22.9% of performed TA biopsies over the period of the study were positive confirming the diagnosis of GCA on histological exam, which was similar to another report and is considered to be relatively low. The incorporation of increased clinically focused assessments and algorithms, with the aid of the ACR/EULAR criteria, may decrease the frequency of TA biopsies that carries unnecessary cost and risk of procedure-related morbidity. We highly recommend applying the age of ≥ 50 years as an initial criterion for diagnosis, followed by the consideration of the statistically significant clinical features: scalp tenderness, jaw claudication, and optic nerve pallor.

Dataset Information

Association between IL-18 gene polymorphisms and biopsy-proven giant cell arteritis.

Publications

Association between IL-18 gene polymorphisms and biopsy-proven giant cell arteritis.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets