Affiliation: Hospital Central de Asturias
Coto E, Reguero J, Avanzas P, Pascual I, Martin M, Hevia S, et al
. Gene variants in the NF-KB pathway (NFKB1, NFKBIA, NFKBIZ) and risk for early-onset coronary artery disease. Immunol Lett. 2019;208:39-43 pubmed publisher
..01). In our population, the NFKBIZ variant was an independent risk factor for developing early-onset CAD. ..
Coto E, GÃ³mez J, SuÃ¡rez B, Tranche S, DÃaz Corte C, Ortiz A, et al
. Association between the IL17RA rs4819554 polymorphism and reduced renal filtration rate in the Spanish RENASTUR cohort. Hum Immunol. 2015;76:75-8 pubmed publisher
..A scenario in which the pro-inflammatory role of the IL17-pathway contributes to kidney damage might explain the association between Il17RA polymorphisms and an impaired renal function. ..
Coto E, Diaz Corte C, Tranche S, Gomez J, Alonso B, Iglesias S, et al
. Gene variants in the NF-KB pathway (NFKB1, NFKBIA, NFKBIZ) and their association with type 2 diabetes and impaired renal function. Hum Immunol. 2018;79:494-498 pubmed publisher
..Additional studies to confirm this association are of special interest, as well as studies to give a functional explanation to the genetic association. ..
Coto Segura P, Batalla A, GonzÃ¡lez FernÃ¡ndez D, GÃ³mez J, Santos Juanes J, Queiro R, et al
. CDKAL1 gene variants affect the anti-TNF response among Psoriasis patients. Int Immunopharmacol. 2015;29:947-949 pubmed publisher
..If confirmed on other large cohorts of patients, the genotyping of these variants might help to predict the biological response. ..
GÃ³mez J, Reguero J, Coto E. The Ups and Downs of Genetic Diagnosis of Hypertrophic Cardiomyopathy. Rev Esp Cardiol (Engl Ed). 2016;69:61-8 pubmed publisher
..Massive sequencing also enables identification of new candidate genes, but again, the problem of variants of uncertain significance limits the success of these assessments. ..
Riobello C, GÃ³mez J, Gil PeÃ±a H, Tranche S, Reguero J, de la Hera J, et al
. KCNQ1 gene variants in the risk for type 2 diabetes and impaired renal function in the Spanish Renastur cohort. Mol Cell Endocrinol. 2016;427:86-91 pubmed publisher
..If this association is confirmed by others, further research to determine the mechanism that drives this association would be warranted. ..
Coto Segura P, Gonzalez Lara L, GÃ³mez J, Eiris N, Batalla A, GÃ³mez C, et al
. NFKBIZ in Psoriasis: Assessing the association with gene polymorphisms and report of a new transcript variant. Hum Immunol. 2017;78:435-440 pubmed publisher
..This new alternative transcript lacks a domain predicted to interact with the NFKB1/p50 protein. Functional studies to define the effect of this alternative transcript on the regulation of the NF-ÎºB pathway are necessary. ..
Gomez J, Lorca R, Reguero J, Moris C, Martin M, Tranche S, et al
. Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. Circ Cardiovasc Genet. 2017;10: pubmed publisher
..Our work, together with others who found FLNC variants among patients with dilated and restrictive cardiomyopathies, pointed to this gene as an important cause of structural cardiomyopathies. ..