1572. Genetic susceptibility to Invasive Pneumococcal Disease
Session: Poster Abstract Session: Microbial and Host Genetic Factors in Disease
Saturday, October 5, 2013
Room: The Moscone Center: Poster Hall C
  • poster.pdf (209.0 kB)
  • Background:

    The isolation of Streptococcus pneumoniae  in normally sterile places is defined as Invasive Pneumococcal Disease (IPD). Risk factors for IPD are well recognised. However, there is a number of patients with IPD that do not present known risk factors or associated disorders. The aim of our study it to identify genetic factors that confer susceptibility to IPDs and that may help to identify individuals at higher risk of infection who could benefit from preventive treatments such as vaccination.


    A case-control association study was performed on N=77 living IPD patients recruited in 2 acute care hospitals and N= 245 randomized selected controls of Caucasian origin. Forty-nine Tagged SNPs were selected in genes involved in the regulation of the immunological response, including IL10, IL12B, IL1A, IL1B, ILR1, IL4, NFKB1A, NFKBIE, NFKBIL2, NFKBIZ,  and were investigated in the samples using iPLEX technology.


    Single marker analyses revealed a significant association between a NFKBIZ polymorphism (rs645781) and IPD (p=0.03). Additionally, three ILR1 polymorphisms (rs951193, rs3917254 & rs3917296) were associated with IPD in patients that did not present known risk factors (p=0.04, p=0.02 & p=0.001, respectively). IPD risk alleles were more frequent in those patients without known risk factors, suggesting that genetic variants contributed to their susceptibility.


    The results of this preliminary study suggest that there is a genetically-determined susceptibility that could explain the occurrence of IPD in patients without known risk factors.

    Anna Sangil, Medical Doctor, Hospital Universitari Mutua Terrassa, Terrassa, Barcelona, Spain; Universitat Internacional De Catalunya, San Cugat, Barcelona, Spain, Maria Jesus Arranz, PhD, Fundació Mutua Terrassa, Terrassa, Barcelona, Spain, Marta Andres, Consorci Sanitari Terrassa, Terrassa, Spain, Noelia Clapes, Hospital Mutua Terrassa, Terrassa, Barcelona, Spain, Cristina Badia, Fundació Mutua Terrassa, Terrassa, Spain, Elena Espejo, Consorci Sanitari De Terrassa, Terrassa, Spain, Javier Garau, MD, Hospital Universitari Mutua de Terrassa, University of Barcelona, Barcelona, Spain and Esther Calbo, PhD, Hospital Universitari Mutua De Terrassa, Terrassa, Spain; Universitat Internacional De Catalunya, Sant Cugat, Spain


    A. Sangil, None

    M. J. Arranz, None

    M. Andres, None

    N. Clapes, None

    C. Badia, None

    E. Espejo, None

    J. Garau, None

    E. Calbo, None

    Findings in the abstracts are embargoed until 12:01 a.m. PST, Oct. 2nd with the exception of research findings presented at the IDWeek press conferences.