Session Title: Genetics and Genomics of Rheumatic Diseases
Session Type: Abstract Submissions (ACR)
Background/Purpose: Previous studies identified polymorphisms in the gene coding for the Methylenetetrahydrofolatereductase (MTHFR) enzyme as genetic contributors for cardiovascular disease in the general population. The purpose of the present study was to determine the prevalence of the MTHFR polymorphisms for either 677 or 1298 allele in patients with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) and to investigate whether they associate with carotid and femoral intima media thickness scores and plaque formation.
Methods: 77 consecutive SLE patients, according to the American/European classification criteria, 101 RA patients and 137 healthy controls were enrolled. All study groups were assessed for MTHFR 677CT or 1298AC genotype. Furthermore, all patients underwent ultrasound determination of intima-media thickness score (IMT) and plaque formation in the carotid and femoral arteries. Data regarding clinical, hematological, serological, immunological information and therapeutic regimens were recorded in all patients. Classical risk factors for cardiovascular disease were also assessed.
Results: The prevalence of MTHFR TT and CC genotypes in the SLE group was 25% (19 of 77 patients) for the 677 allelle and 10.5% (8 of 77 patients) for the 1298 allele, respectively. The corresponding figures for the RA group were 9% (12 of 133) and 9.8% (13 of 133) and the healthy controls 13.13% (18 of 137) and 9.48% (13 of 137), respectively. A significantly higher prevalence for the MTHFR homozygous 677TT mutation was observed in patients with SLE compared to both RA patients and healthy controls (p-values 0.004 and 0.038, respectively). No differences were detected in the prevalence of the different MTHFR genotypes between RA and healthy controls.
Among the 77 SLE patients evaluated for subclinical atherosclerosis, 25 (32.46%) had increased IMT scores (defined as >0.90mm) and 44 (57.14%) had plaque. IMT score was found positively associated with the presence of either the MTHFR 677 or 1298 homozygous mutation (p=0.026). A trend of increased IMT scores was detected in RA patients sharing the heterozygous MTHFR 1298 AC genotype compared to the other groups.No correlation was found between the development of plaque and the presence of any MTHFR mutation in SLE and RA populations.
Conclusion: The prevalence of MTHFR homozygous mutation for 677 allelle was significantly higher in SLE compared to RA and controls. Furthermore, IMT score was found positively associated to homozygocity for either MTHFR 677TT or 1298CC, suggesting the effect of genetic risk factors in the accelerated atherosclerotic disease characterizing SLE patients.
C. P. Mavragani,
H. M. Moutsopoulos,
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ACR Meeting Abstracts - https://acrabstracts.org/abstract/mthfr-polymorphisms-in-systemic-lupus-erythematosus-and-rheumatoid-arthritis-associations-with-intima-media-thickness-scores/