Variants in the promoter region of IKBL/NFKBIL1 gene may mark susceptibility to the development of chronic Chagas’ cardiomyopathy among Trypanosoma cruzi-infected individuals

Ramasawmy, Rajendranath; Faé, Kellen C.; Cunha-Neto, Edécio; Borba, Susan C. P.; Ianni, Bárbara Maria; Mady, Charles; Goldberg, Anna Carla; Kalil, Jorge

doi:10.1016/j.molimm.2007.04.015

Cited by 28 publications

(17 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Functional characterisation of the gene supports a role in the pathogenesis of rheumatoid arthritis, and further, indicates that NFKBIL1 proteins may be involved in mRNA processing or the regulation of translation (Greetham et al, 2007). NFKBIL1 has also been associated with other inflammation-related disorders: chronic thromboembolic pulmonary hypertension in a Japanese cohort (p = .0002) (Kominami et al, 2009), and the development of chronic Chagas' cardiomyopathy among Trypanosoma cruzi-infected individuals in a Brazilian cohort (p = .009) (Ramasawmy et al, 2008). Note: Gene selection was based on searches conducted using the Genetic Association Database (geneticassociationdb.nih.gov).…”

Section: Metabolicmentioning

confidence: 86%

Whole genome association scan for genetic polymorphisms influencing information processing speed

Luciano

Hansell

Lahti

et al. 2011

Biological Psychology

View full text Add to dashboard Cite

Processing speed is an important cognitive function that is compromised in psychiatric illness (e.g., schizophrenia, depression) and old age; it shares genetic background with complex cognition (e.g., working memory, reasoning). To find genes influencing speed we performed a genome-wide association scan in up to three cohorts: Brisbane (mean age 16 years; N = 1659); LBC1936 (mean age 70 years, N = 992); LBC1921 (mean age 82 years, N = 307), and; HBCS (mean age 64 years, N = 1080). Meta-analysis of the common measures highlighted various suggestively significant (p < 1.21 × 10 −5 ) SNPs and plausible candidate genes (e.g., TRIB3). A biological pathways analysis of the speed factor identified two common pathways from the KEGG database (cell junction, focal adhesion) in two cohorts, while a pathway analysis linked to the GO database revealed common pathways across pairs of speed measures (e.g., receptor binding, cellular metabolic process). These highlighted genes and pathways will be able to inform future research, including results for psychiatric disease. KeywordsInformation processing speed; Cognitive ability; Genes; Biological pathways © 2010 Elsevier B.V. All rights reserved. * Corresponding author at: Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK. Tel.: +44 131 6 51 5040; fax: +44 131 650 8405. michelle.luciano@ed.ac.uk. . 1 These authors contributed equally to this work. Appendix A. Supplementary data Supplementary data associated with this article can be found, in the online version, at doi: 10.1016/j.biopsycho.2010.11.008. Europe PMC Funders GroupAuthor Manuscript Biol Psychol. Author manuscript; available in PMC 2012 April 04. Published in final edited form as:Biol Psychol. 2011 March ; 86(3): 193-202. doi:10.1016/j.biopsycho.2010 Europe PMC Funders Author Manuscripts Europe PMC Funders Author ManuscriptsInformation processing speed is considered a lower level cognitive process, although it shares a large portion of its genetic variance with higher order abilities (e.g., reasoning, working memory) (Luciano et al., 2003;Neubauer, 1997). It is a cognitive domain that is particularly prone to deterioration with ageing (Salthouse, 1996); for example, simple reaction time (RT) slows at around 50 years of age and choice RT slows throughout the adult range (Der and Deary, 2006). However, similar to complex cognition with which it is correlated, the genes influencing speed are expected to be stable across the lifespan (Lyons et al., 2009). Speed is affected (slowed) in psychiatric conditions such as schizophrenia, depression and substance use disorder (Andersson et al., 2010;Jahshan et al., 2009) and RT has even been shown to account for the relationship between IQ and mortality in a cohort followed up until age 70 (Deary and Der, 2005;Latvala et al., 2009). It is therefore an important trait to understand, and in this study, we aim to locate genes influencing chronometric and psychometric processing speed measures via genome wide association. These genes may underlie comple...

show abstract

Section: Metabolicmentioning

confidence: 86%

Whole genome association scan for genetic polymorphisms influencing information processing speed

Luciano

Hansell

Lahti

et al. 2011

Biological Psychology

View full text Add to dashboard Cite

show abstract

“…A meta-analysis in Japanese populations revealed that -262G and -62T were the candidate loci for susceptibility to ulcerative colitis 8), although another European group additionally reported an association with +738C 9) . In addition, the associations were found for other inflammatory diseases such as chronic Chagas cardiomyopathy (susceptibility with -262A and -62A alleles, and -262A-62A haplotype) 10) , Takayasu arteritis (TA) (susceptibility with IkBLp*03 haplotype) 1) , and chronic thromboembolic pulmonary hypertension (susceptibility with IkBLp*03 haplotype) 11) . These lines of evidence strongly suggested the involvement of IKBL in autoimmune and/or inflammatory diseases.…”

Section: A Potential Role Of Ikbl In the Immune Regulationmentioning

confidence: 99%

IκBL mapped within the HLA region is a novel regulator of alternative splicing involved in the pathogenesis of immune-related diseases

Kimura

2013

MHC

View full text Add to dashboard Cite

HLA region contains a set of genes that play crucial roles in the immune system. In addition to the central function of antigenpresentation, which is conducted by HLA class I and II genes, function of the other HLA-linked genes may also contribute to the immune regulation. IKBL, alternatively named as NFKBIL1, mapped within the HLA class III region is a newly emerged gene, of which sequence variations are associated with the susceptibility or resistance to autoimmune and/or inflammatory diseases. We recently have revealed that the IKBL-coded protein, IkBL, is involved in the regulation of alternative splicing in human immune-related genes and a viral gene, which unravel an unexpected function of the HLA-linked gene and provided a novel understanding of HLA in the regulation of immunity and infection. In this review, we summarize the latest trends in the study of IKBL.

show abstract

“…Given the importance of inflammatory mechanisms for CCC pathogenesis, genetic susceptibility to CCC may result from functionally relevant genetic polymorphisms that lead to variations in the intensity of the innate or acquired immune response and in inflammatory cytokines and chemokines involved in the pathogenesis of the disease. During the past few years, our group has shown associations between SNPs in genes such as CCL2, BAT1 (an inhibitor of inflammatory cytokines), Lymphotoxin-α, NFKBIL1 (potential inhibitor of NFKB) and MAL/TIRAP (an adaptor protein involved in the TLR2 and TLR4 signalling pathway) with CCC when compared with the indeterminate group (Ramasawmy et al 2006a(Ramasawmy et al , b, 2008(Ramasawmy et al , 2009 especially when the importance of migration of innate immune cells, inflammatory cytokines and chemokinedependent migration in the pathogenesis of CCC is considered. As in with every multi-faceted disease, the input of each gene involved in the development of CCC is expected to be very small (1-10% of the susceptibility).…”

Section: Genetics and Differential Evolution To CCCmentioning

confidence: 99%

Immunological and non-immunological effects of cytokines and chemokines in the pathogenesis of chronic Chagas disease cardiomyopathy

Cunha‐Neto

Nogueira²,

Teixeira³

et al. 2009

Mem. Inst. Oswaldo Cruz

Self Cite

View full text Add to dashboard Cite

Variants in the promoter region of IKBL/NFKBIL1 gene may mark susceptibility to the development of chronic Chagas’ cardiomyopathy among Trypanosoma cruzi-infected individuals

Cited by 28 publications

References 24 publications

Whole genome association scan for genetic polymorphisms influencing information processing speed

Whole genome association scan for genetic polymorphisms influencing information processing speed

IκBL mapped within the HLA region is a novel regulator of alternative splicing involved in the pathogenesis of immune-related diseases

Immunological and non-immunological effects of cytokines and chemokines in the pathogenesis of chronic Chagas disease cardiomyopathy

Contact Info

Product

Resources

About