RT Journal Article
T1 Whole Exome Sequencing Identifies New Host Genomic Susceptibility Factors in Empyema Caused by Streptococcus pneumoniae in Children: A Pilot Study
A1 Salas Ellacuriaga, Antonio
A1 Pardo Seco, Jacobo José
A1 Barral Arca, Ruth
A1 Cebey López, Miriam
A1 Gómez Carballa, Alberto
A1 Rivero Calle, Irene
A1 Pischedda, Sara
A1 Currás Tuala, María José
A1 Amigo Lechuga, Jorge
A1 Gómez Rial, José
A1 Martinón Torres, Federico
A1 GENDRES network, 
K1 Streptococcus pneumoniae
K1 Infectious disease
K1 Pediatrics
K1 Whole exome sequencing
K1 Next generation sequencing
K1 Parallel sequencing
K1 Transcriptome
AB Pneumonia is the leading cause of death amongst infectious diseases. Streptococcus pneumoniae is responsible for about 25% of pneumonia cases worldwide, and it is a major cause of childhood mortality. We carried out a whole exome sequencing (WES) study in eight patients with complicated cases of pneumococcal pneumonia (empyema). An initial assessment of statistical association of WES variation with pneumonia was carried out using data from the 1000 Genomes Project (1000G) for the Iberian Peninsula (IBS) as reference controls. Pseudo-replication statistical analyses were carried out using different European control groups. Association tests pointed to single nucleotide polymorphism (SNP) rs201967957 (gene MEIS1; chromosome 2; p-valueIBS = 3.71 × 10−13) and rs576099063 (gene TSPAN15; chromosome 10; p-valueIBS = 2.36 × 10−8) as the best candidate variants associated to pneumococcal pneumonia. A burden gene test of pathogenicity signaled four genes, namely, OR9G9, MUC6, MUC3A and APOB, which carry significantly increased pathogenic variation when compared to controls. By analyzing various transcriptomic data repositories, we found strong supportive evidence for the role of MEIS1, TSPAN15 and APOBR (encoding the receptor of the APOB protein) in pneumonia in mouse and human models. Furthermore, the association of the olfactory receptor gene OR9G9 has recently been related to some viral infectious diseases, while the role of mucin genes (MUC6 and MUC3A), encoding mucin glycoproteins, are well-known factors related to chronic obstructive airway disease. WES emerges as a promising technique to disentangle the genetic basis of host genome susceptibility to infectious respiratory diseases
PB MDPI
SN 2073-4425
YR 2018
FD 2018-05-03
LK http://hdl.handle.net/10347/17643
UL http://hdl.handle.net/10347/17643
LA eng
NO Salas, A.; Pardo-Seco, J.; Barral-Arca, R.; Cebey-López, M.; Gómez-Carballa, A.; Rivero-Calle, I.; Pischedda, S.; Currás-Tuala, M.-J.; Amigo, J.; Gómez-Rial, J.; Martinón-Torres, F.; on behalf of GENDRES Network.	Whole Exome Sequencing Identifies New Host Genomic Susceptibility Factors in Empyema Caused by Streptococcus pneumoniae in Children: A Pilot Study. Genes 2018, 9, 240
NO This study received support from the Instituto de Salud Carlos III (Proyecto de Investigación en Salud, Acción Estratégica en Salud): project GePEM ISCIII/PI16/01478/Cofinanciado FEDER) (A.S.) and project ReSVinext ISCIII/PI16/01569/Cofinanciado FEDER (F.M.-T.); Consellería de Sanidade, Xunta de Galicia (RHI07/2-intensificación actividad investigadora, PS09749 and 10PXIB918184PR), Instituto de Salud Carlos III (Intensificación de la actividad investigadora 2007–2012, PI16/01569), Fondo de Investigación Sanitaria (FIS; PI070069/PI1000540) del Plan Nacional de I + D + I and ‘Fondos FEDER’ (F.M.-T.), and 2016-PG071 Consolidación e Estructuración REDES 2016GI-1344 G3VIP (Grupo Gallego de Genética Vacunas Infecciones y Pediatría, ED341D R2016/021) (A.S. and F.M.T)
DS Minerva
RD 24 abr 2026