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Javier Martin - One of the best experts on this subject based on the ideXlab platform.

  • Analysis of Systemic Sclerosis-associated Genes in a Turkish Population
    The Journal of Rheumatology, 2016
    Co-Authors: F. David Carmona, Amr H Sawalha, Ahmet Mesut Onat, Tamara Fernández-aranguren, Alberto Serrano-fernández, Gema Robledo, S. Yavuz, Haner Direskeneli, Javier Martin
    Abstract:

    Objective. To evaluate the Genetic background of systemic sclerosis (SSc) in the Turkish population. Methods. There were 354 cases and 718 unaffected controls from Turkey genotyped for the most relevant SSc Genetic markers ( IRF5 -rs10488631, STAT4 -rs3821236, CD247 -rs2056626, DNASE1L3 -rs35677470, IL12A -rs77583790, and ATG5 -rs9373839). Association tests were conducted to identify possible associations. Results. Except for ATG5 , all the analyzed genes showed either significant associations ( IRF5 : p = 1.32E–05, OR 1.76; CD247 : p = 2.20E–03, OR 0.75) or trends of association ( STAT4 : p = 0.066, OR 1.21; IL12A : p = 0.079, OR 4.07; DNASE1L3 : p = 0.097, OR 1.41) with the overall disease or with specific phenotypes. Conclusion. The Genetic Component of SSc seems to be similar between Turks and Europeans.

  • Genetic Component of giant cell arteritis
    Rheumatology, 2014
    Co-Authors: David F Carmona, Miguel A Gonzalezgay, Javier Martin
    Abstract:

    : Important steps forwards have been taken during recent years towards the understanding of the Genetic basis of autoimmunity. The increasing number of study cohorts is allowing better characterization of the Genetic Component of most autoimmune diseases. However, the molecular mechanisms leading to some less common diseases remain poorly understood. GCA, an antigen-driven systemic vasculitis affecting medium and large blood vessels of elderly people, represents one of these cases. However, although underpowered to detect low to moderate effect sizes and without replication steps, many Genetic studies on this disease have been published in the past decade. These reports clearly point to genes located in the MHC region, in particular HLA-DRB1*04 alleles, and other key members of the immune and inflammatory response (including cytokines, adhesion molecules and regulators of innate immunity), as crucial players in the development and progression of GCA. Considering that no literature review has been published so far about the Genetic Component of this vasculitis, we aimed to summarize here the current knowledge on the Genetics underlying GCA predisposition and severity.

  • Unraveling the Genetic Component of systemic sclerosis
    Human Genetics, 2012
    Co-Authors: José Ezequiel Martín, Lara Bossini-castillo, Javier Martin
    Abstract:

    Systemic sclerosis (SSc) is a severe connective tissue disorder characterized by extensive fibrosis, vascular damage, and autoimmune events. During the last years, the number of Genetic markers convincingly associated with SSc has exponentially increased. In this report, we aim to offer an updated review of the classical and novel Genetic associations with SSc, analyzing the firmest and replicated signals within HLA and non-HLA genes, identified by both candidate gene and genome-wide association (GWA) studies. We will also provide an insight into the future perspectives and approaches that might shed more light into the complex Genetic background underlying SSc. In spite of the remarkable advance in the field of SSc Genetics during the last decade, the use of the new Genetic technologies such as next generation sequencing (NGS), as well as the deep phenotyping of the study cohorts, to fully characterize the Genetic Component of this disease is imperative.

Soumya Raychaudhuri - One of the best experts on this subject based on the ideXlab platform.

Guhrer Saruhandireskeneli - One of the best experts on this subject based on the ideXlab platform.

  • analysis of the Genetic Component of systemic sclerosis in iranian and turkish populations through a genome wide association study
    Rheumatology, 2019
    Co-Authors: David Gonzalezserna, Haner Direskeneli, Elena Lopezisac, Neslihan Yilmaz, Farhad Gharibdoost, Ahmadreza Jamshidi, Hoda Kavosi, Shiva Poursani, Faraneh Farsad, Guhrer Saruhandireskeneli
    Abstract:

    Objectives. SSc is an autoimmune disease characterized by alteration of the immune response, vasculopathy and fibrosis. Most Genetic studies on SSc have been performed in European-ancestry populations. The aim of this study was to analyse the Genetic Component of SSc in Middle Eastern patients from Iran and Turkey through a genome-wide association study.Methods. This study analysed data from a total of 834 patients diagnosed with SSc and 1455 healthy controls from Iran and Turkey. DNA was genotyped using high-throughput genotyping platforms. The data generated were imputed using the Michigan Imputation Server, and the Haplotype Reference Consortium as a reference panel. A meta-analysis combining both case-control sets was conducted by the inverse variance method.Results. The highest peak of association belonged to the HLA region in both the Iranian and Turkish populations. Strong and independent associations between the classical alleles HLA-DRB1*11:04 [P = 2.10 x 10(-24), odds ratio (OR) = 3.14] and DPB1*13:01 (P = 5.37 x 10(-14), OR = 5.75) and SSc were observed in the Iranian population. HLA-DRB1*11:04 (P = 4.90 x 10(-11), OR = 2.93) was the only independent signal associated in the Turkish cohort. An omnibus test yielded HLA-DRB1 58 and HLA-DPB1 76 as relevant amino acid positions for this disease. Concerning the meta-analysis, we also identified two associations close to the genome-wide significance level outside the HLA region, corresponding to IRF5-TNPO3 rs17424921-C (P = 1.34 x 10(-7), OR = 1.68) and NFKB1 rs4648133-C (P = 3.11 x 10(-7), OR = 1.47).Conclusion. We identified significant associations in the HLA region and suggestive associations in IRF5-TNPO3 and NFKB1 loci in Iranian and Turkish patients affected by SSc through a genome-wide association study and an extensive HLA analysis.

Haner Direskeneli - One of the best experts on this subject based on the ideXlab platform.

  • analysis of the Genetic Component of systemic sclerosis in iranian and turkish populations through a genome wide association study
    Rheumatology, 2019
    Co-Authors: David Gonzalezserna, Haner Direskeneli, Elena Lopezisac, Neslihan Yilmaz, Farhad Gharibdoost, Ahmadreza Jamshidi, Hoda Kavosi, Shiva Poursani, Faraneh Farsad, Guhrer Saruhandireskeneli
    Abstract:

    Objectives. SSc is an autoimmune disease characterized by alteration of the immune response, vasculopathy and fibrosis. Most Genetic studies on SSc have been performed in European-ancestry populations. The aim of this study was to analyse the Genetic Component of SSc in Middle Eastern patients from Iran and Turkey through a genome-wide association study.Methods. This study analysed data from a total of 834 patients diagnosed with SSc and 1455 healthy controls from Iran and Turkey. DNA was genotyped using high-throughput genotyping platforms. The data generated were imputed using the Michigan Imputation Server, and the Haplotype Reference Consortium as a reference panel. A meta-analysis combining both case-control sets was conducted by the inverse variance method.Results. The highest peak of association belonged to the HLA region in both the Iranian and Turkish populations. Strong and independent associations between the classical alleles HLA-DRB1*11:04 [P = 2.10 x 10(-24), odds ratio (OR) = 3.14] and DPB1*13:01 (P = 5.37 x 10(-14), OR = 5.75) and SSc were observed in the Iranian population. HLA-DRB1*11:04 (P = 4.90 x 10(-11), OR = 2.93) was the only independent signal associated in the Turkish cohort. An omnibus test yielded HLA-DRB1 58 and HLA-DPB1 76 as relevant amino acid positions for this disease. Concerning the meta-analysis, we also identified two associations close to the genome-wide significance level outside the HLA region, corresponding to IRF5-TNPO3 rs17424921-C (P = 1.34 x 10(-7), OR = 1.68) and NFKB1 rs4648133-C (P = 3.11 x 10(-7), OR = 1.47).Conclusion. We identified significant associations in the HLA region and suggestive associations in IRF5-TNPO3 and NFKB1 loci in Iranian and Turkish patients affected by SSc through a genome-wide association study and an extensive HLA analysis.

  • analysis of the common Genetic Component of large vessel vasculitides through a meta immunochip strategy
    Scientific Reports, 2017
    Co-Authors: Haner Direskeneli, F D Carmona, Patrick Coit, Guher Saruhandireskeneli, Jose Hernandezrodriguez, Roser Solans, Santos Castaneda, Augusto Vaglio, Peter A Merkel
    Abstract:

    Giant cell arteritis (GCA) and Takayasu’s arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their Genetic similarities, we analysed Immunochip genotyping data from 1,434 LVV patients and 3,814 unaffected controls. Genetic pleiotropy was also estimated. The HLA region harboured the main disease-specific associations. GCA was mostly associated with class II genes (HLA-DRB1/HLA-DQA1) whereas TAK was mostly associated with class I genes (HLA-B/MICA). Both the statistical significance and effect size of the HLA signals were considerably reduced in the cross-disease meta-analysis in comparison with the analysis of GCA and TAK separately. Consequently, no significant Genetic correlation between these two diseases was observed when HLA variants were tested. Outside the HLA region, only one polymorphism located nearby the IL12B gene surpassed the study-wide significance threshold in the meta-analysis of the discovery datasets (rs755374, P = 7.54E-07; ORGCA = 1.19, ORTAK = 1.50). This marker was confirmed as novel GCA risk factor using four additional cohorts (PGCA = 5.52E-04, ORGCA = 1.16). Taken together, our results provide evidence of strong Genetic differences between GCA and TAK in the HLA. Outside this region, common susceptibility factors were suggested, especially within the IL12B locus.

  • Analysis of Systemic Sclerosis-associated Genes in a Turkish Population
    The Journal of Rheumatology, 2016
    Co-Authors: F. David Carmona, Amr H Sawalha, Ahmet Mesut Onat, Tamara Fernández-aranguren, Alberto Serrano-fernández, Gema Robledo, S. Yavuz, Haner Direskeneli, Javier Martin
    Abstract:

    Objective. To evaluate the Genetic background of systemic sclerosis (SSc) in the Turkish population. Methods. There were 354 cases and 718 unaffected controls from Turkey genotyped for the most relevant SSc Genetic markers ( IRF5 -rs10488631, STAT4 -rs3821236, CD247 -rs2056626, DNASE1L3 -rs35677470, IL12A -rs77583790, and ATG5 -rs9373839). Association tests were conducted to identify possible associations. Results. Except for ATG5 , all the analyzed genes showed either significant associations ( IRF5 : p = 1.32E–05, OR 1.76; CD247 : p = 2.20E–03, OR 0.75) or trends of association ( STAT4 : p = 0.066, OR 1.21; IL12A : p = 0.079, OR 4.07; DNASE1L3 : p = 0.097, OR 1.41) with the overall disease or with specific phenotypes. Conclusion. The Genetic Component of SSc seems to be similar between Turks and Europeans.

Eli A Stahl - One of the best experts on this subject based on the ideXlab platform.