Analysis of two autoimmunity genes, IRAK1 and MECP2, in giant cell arteritis.

OBJECTIVES: The Xq28 region, containing IRAK and MECP2, represent a common susceptibility locus for a high number of autoimmune diseases. Our aim in the present study was to evaluate the influence of the IRAK1 and MECP2 autoimmunity-associated genetic variants in the giant cell arteritis (GCA) susceptibility and its clinical subphenotypes. METHODS: We analysed a total of 627 female biopsy-proven GCA patients and 1,520 female healthy controls of Spanish Caucasian origin. Two polymorphisms, rs1059702 and rs17345, located at IRAK1 and MECP2, respectively, were genotyped using TaqMan® allelic discrimination assays. RESULTS: No association with any of the analysed polymorphisms was evident when genotype and allele frequencies were compared between GCA patients and controls (rs1059702: allelic p-value=0.699, OR=0.96, CI 95% 0.80-1.17; rs17435: allelic p-value=0.994, OR=1.00, CI 95% 0.84-1.19). Likewise, the subphenotype analysis yield similar negative results. CONCLUSIONS: We have assessed for the first time the possible role of IRAK1 and MECP2 autoimmune disease-associated polymorphisms in GCA. Our data suggest that IRAK1 rs1059702 and MECP2 rs17435 genetic variants do not play a significant role in GCA susceptibility or severity.

Autoimmune disease-associated CD226 gene variants are not involved in giant cell arteritis susceptibility in the Spanish population.

OBJECTIVES: CD226 genetic variants have been associated with a number of autoimmune diseases. The aim of this study was to investigate the potential implication of the CD226 loci in the susceptibility to and main clinical manifestations of giant cell arteritis (GCA). METHODS: A Spanish Caucasian cohort of 455 patients diagnosed with biopsy-proven GCA and 1414 healthy controls were included in the study. Three CD226 polymorphisms, rs727088, rs34794968 and rs763361, were genotyped using the TaqMan® allelic discrimination technology. PLINK software was used for the statistical analyses. RESULTS: No significant association between the CD226 polymorphisms and susceptibility to GCA was found (rs727088: p=0.92, OR=1.01, CI 95% 0.86-1.18; rs34794968: p=0.61, OR=1.04, CI 95% 0.89-1.22; rs763361: p=0.88, OR=0.99, CI 95% 0.84-1.16). Similarly, when patients were stratified according to the specific clinical features of GCA such as polymyalgia rheumatica, visual ischaemic manifestations or irreversible occlusive disease, no association was observed either between the case subgroups and the control set or between GCA patients with and without the specific features of the disease. Furthermore, the haplotype analysis revealed no significant association with the clinical manifestations of the disease. CONCLUSIONS: Our results show that the three CD226 polymorphisms analysed do not play a relevant role in the susceptibility to GCA and clinical manifestations of this vasculitis.

Water-Facilitated Electrodeposition of Neodymium in a Phosphonium-Based Ionic Liquid.

Rare-earth metals are considered critical metals due to their extensive use in energy-related applications such as wind turbines and nickel-metal hybrid batteries found in hybrid electrical vehicles. A key drawback of the current processing methods includes the generation of large amounts of toxic and radioactive waste. Thus the efficient recovery of these valuable metals as well as cleaner processing methods are becoming increasingly important. Here we report on a clean electrochemical route for neodymium (Nd) recovery from [P6,6,6,14][TFSI], trihexyltetradecylphosphonium bis(trifluoromethylsulfonyl)amide which is amplified three times by the presence of water, as evidenced by the cathodic current density and thicker deposits. The role of Nd salt concentrations and water content as an additive in the electrochemistry of Nd3+ in [P6,6,6,14][TFSI] has been studied. The presence of metallic neodymium in the deposits has been confirmed by X-ray photoelectron spectroscopy.

Intestinal involvement secondary to the antiphospholipid syndrome (APS): clinical and immunologic characteristics of 97 patients: comparison of classic and catastrophic APS.

OBJECTIVE: To analyze the clinical and laboratory characteristics of 97 patients with intestinal involvement secondary to the antiphospholipid syndrome (APS) (37 patients with classic APS and 60 with catastrophic APS). METHODS: A computer-assisted (PubMed) search of the literature was performed to identify all cases of intestinal involvement associated with the APS from 1983 to December 2005. In addition, we analyzed the web-site-based international registry of patients with catastrophic APS ("CAPS Registry"). RESULTS: There were no differences in distribution by gender, mean age, and previous clinical manifestations of APS between the 2 groups. The prevalence of abdominal pain as the presenting manifestation of intestinal ischemia was higher in patients with classic APS (76% versus 37%; P < 0.005). The main difference in histopathologic findings between the 2 groups was the higher rate of microthrombosis in patients with catastrophic APS (75% versus 4%; P < 0.0005). The mortality rate was higher in patients with catastrophic APS (55% versus 17%; P < 0.0005). Follow-up was available in 22 patients with classical APS: 17 of them were discharged on oral anticoagulation and with a mean follow-up of 13 months (range, 1 to 48); all were in good health without the development of new thrombotic events. CONCLUSIONS: Intestinal involvement, although infrequent, is an important complication in patients with APS, especially in those with catastrophic APS. This would support the need for systematic screening for aPL in all cases of mesenteric thrombosis or ischemic colitis without clear underlying predisposing factors, and for systematic screening procedures in all classic APS patients complaining of abdominal pain.

Role of the CCR5/Δ32CCR5 polymorphism in biopsy-proven giant cell arteritis.

To further explore the potential role of chemokines in giant cell arteritis (GCA), we have studied whether the CCR5/Δ32CCR5 polymorphism is implicated in the susceptibility to the disease and its specific features. A total of 352 Spanish patients with biopsy-proven GCA and 479 matched controls were assessed. DNA was obtained from peripheral blood. Samples were genotyped by PCR with specific primers spanning the 32-bp deletion region. No statistically significant difference in the Δ32CCR5 allele frequency between GCA patients (6.1%) and controls (6.8%) was observed (p = 0.58). This was also the case when the CCR5 /Δ32CCR5 genotype distribution was assessed (p = 0.49). The Δ32CCR5 allele frequency did not differ between patients with or without specific manifestations of the disease, such as polymyalgia rheumatica, visual ischemic manifestations, or irreversible occlusive disease. Hence, our results do not support a potential influence of Δ32CCR5 in the susceptibility to or clinical spectrum of GCA.

A nonsynonymous functional variant of the ITGAM gene is not involved in biopsy-proven giant cell arteritis.

OBJECTIVE: To investigate whether a functional integrin alpha M (ITGAM) variant is involved in susceptibility to and clinical manifestations of giant cell arteritis (GCA). METHODS: A Spanish cohort of 437 white patients with biopsy-proven GCA and 1388 healthy controls were genotyped using the TaqMan allele discrimination technology. RESULTS: No association was observed between ITGAM rs1143679 and GCA (p = 0.80, OR 0.97). Similarly, subphenotype analyses did not yield significant differences between the case subgroups and the control set or between GCA patients with or without the main specific features of GCA. CONCLUSION: Our results suggest that the ITGAM rs1143679 variant does not play an important role in the pathophysiology of GCA.