TY - JOUR
T1 - Genetic susceptibility to invasive pneumococcal disease
AU - Betriu, Anna Sangil
AU - Arranz, María J.
AU - Güerri-Fernández, Roberto
AU - Pérez, Maite
AU - Monzón, Helena
AU - Payeras, Antoni
AU - Andrés, Marta
AU - Torviso, Jorge
AU - Ibañez, Laura
AU - Garau, Javier
AU - Calbo, Esther
N1 - Funding Information:
The study was presented in part at the San Francisco at IDWeek October 2013 as oral communication. Funding : This study was supported by a grant from the Institute Carlos III for biomedical research ( PI11/02698 ). Conflict of interest : J. G. has received grants from Vifor Pharma, Bayer and Pfizer, and speaking engagements and conference invitations from Astellas, AstraZeneca, Novartis, Pfizer, GSK, Bayer, Vifor Pharma, Cubist, Durata and Theravance. E. C. has received grants, speaking engagements and conference invitations from Astellas, AstraZeneca, Novartis, Pfizer and MSD. All other authors: none to declare. Ethical approval : The study was conducted in accordance with ethical principles set out in the latest version of the Declaration of Helsinki and the standard used for Good Clinical Practice, and was approved by the hospital Ethics and Research Committee. Informed consent : Written informed consent was obtained from all patients.
Publisher Copyright:
© 2018 Elsevier B.V.
PY - 2018/4
Y1 - 2018/4
N2 - Background: The pathogenesis of IPD remains unknown, especially among middle-aged individuals without risk factors (WRF). Objectives: The aim of the present study was to investigate the role of single nucleotide polymorphisms (SNP) within key genes involved in innate immune response on IPD susceptibility. Methods: Forty-three SNPs within 10 immunological genes were investigated in a cohort of 144 Caucasian IPD patients and 280 ethnically matched controls. Results: The allele distribution of the NFKBIA rs1050851 and NFKBIE rs2282151 variants were associated with IPD susceptibility (χ 2 = 4.23, p = 0.04 and χ 2 = 5.13, p = 0.02, respectively). Additionally, the genotype distribution of NFKBIZ rs645781 (χ 2 = 8.25, p = 0.02) and IL1R1 rs3917254 (χ 2 = 6.70, p = 0.04) were also associated with IPD risk. When only IPD-WRF patients were considered; the allele distribution of IL1R1 rs2160227 (χ 2 = 5.62, p = 0.03), rs13020778 (χ 2 = 5.73, p = 0.02), rs3917267 (χ 2 = 3.72, p = 0.05) and IL4 rs2227284 (χ 2 = 3.76, p = 0.05) and the genotype distribution of IL10 rs3024509 (χ 2 = 7.70, p = 0.02), IL1R1 rs3917254 (χ 2 = 13.40, p = 0.001), NFKBIZ rs645781 (χ 2 = 13.86, p = 0.001) and rs677011 (χ 2 = 9.06, p = 0.01) variants were associated with IPD risk. Conclusions: We found several associations between variants in the IL1R1, IL4, IL10, NFKBIE, NFKBIA, and NFKBIZ genes and risk of IPD. If validated, these biomarkers may help to identify people with higher risk of IPD.
AB - Background: The pathogenesis of IPD remains unknown, especially among middle-aged individuals without risk factors (WRF). Objectives: The aim of the present study was to investigate the role of single nucleotide polymorphisms (SNP) within key genes involved in innate immune response on IPD susceptibility. Methods: Forty-three SNPs within 10 immunological genes were investigated in a cohort of 144 Caucasian IPD patients and 280 ethnically matched controls. Results: The allele distribution of the NFKBIA rs1050851 and NFKBIE rs2282151 variants were associated with IPD susceptibility (χ 2 = 4.23, p = 0.04 and χ 2 = 5.13, p = 0.02, respectively). Additionally, the genotype distribution of NFKBIZ rs645781 (χ 2 = 8.25, p = 0.02) and IL1R1 rs3917254 (χ 2 = 6.70, p = 0.04) were also associated with IPD risk. When only IPD-WRF patients were considered; the allele distribution of IL1R1 rs2160227 (χ 2 = 5.62, p = 0.03), rs13020778 (χ 2 = 5.73, p = 0.02), rs3917267 (χ 2 = 3.72, p = 0.05) and IL4 rs2227284 (χ 2 = 3.76, p = 0.05) and the genotype distribution of IL10 rs3024509 (χ 2 = 7.70, p = 0.02), IL1R1 rs3917254 (χ 2 = 13.40, p = 0.001), NFKBIZ rs645781 (χ 2 = 13.86, p = 0.001) and rs677011 (χ 2 = 9.06, p = 0.01) variants were associated with IPD risk. Conclusions: We found several associations between variants in the IL1R1, IL4, IL10, NFKBIE, NFKBIA, and NFKBIZ genes and risk of IPD. If validated, these biomarkers may help to identify people with higher risk of IPD.
KW - Genetic susceptibility
KW - Innate immune response
KW - Invasive pneumococcal disease
KW - Pneumonia
KW - S. pneumoniae
UR - http://www.scopus.com/inward/record.url?scp=85041413196&partnerID=8YFLogxK
U2 - 10.1016/j.meegid.2018.01.024
DO - 10.1016/j.meegid.2018.01.024
M3 - Article
C2 - 29407193
AN - SCOPUS:85041413196
VL - 59
SP - 126
EP - 131
JO - Infection, Genetics and Evolution
JF - Infection, Genetics and Evolution
SN - 1567-1348
ER -