open access

Vol 47, No 4 (2016)
Prace oryginalne / Original research articles
Published online: 2016-10-01
Submitted: 2015-09-21
Get Citation

Association of rs1319868, rs1567811 and rs8041224 of gene with infection among sickle cell anemia Tunisian patients

Mouna Ben Sassi1, Leila Chaouch, Miniar Kalai1, Imen Moumni1, Houyem Ouragini1, Imen Darragi1, Dorra Chaouachi1, Imen Boudrigua1, Raouf Hafsia1, Salem Abbes1
DOI: 10.1016/j.achaem.2016.10.004
·
Acta Haematol Pol 2016;47(4):242-247.
Affiliations
  1. Université de Tunis El Manar, Institut Pasteur de Tunis, Laboratoire d’Hématologie Moléculaire et Cellulaire, Tunis, Tunisia

open access

Vol 47, No 4 (2016)
Prace oryginalne / Original research articles
Published online: 2016-10-01
Submitted: 2015-09-21

Abstract

Background and aim

Sickle cell anemia (SCA) is characterized by variable patterns of clinical expression. Polymorphisms linked to different genes have been associated with specific complications of the disease. Herein, we focused on the study of the association of 4 polymorphisms of Insulin like Growth Factor 1 receptor (IGF1R) gene with infections, which are the major cause of death in SCA.

Material and methods

This study involved 116 sickle cell patients among whom 58 SS have the same confirmed infectious phenotype. Allele-Specific PCR was performed for the study of rs1319868, whereas the PCR/sequencing method was carried out for rs1567811, rs2872060 and rs8041224.

Results

The results showed that rs1319868 and rs1567811 were associated with a decreased risk of infection among SS patients (p=0.038, RR=0.54; p=0.044, RR=0.56, respectively). Interestingly, the combination of different genotypes showed the association of the genotype GT of rs1319868 and the genotype CC of rs8041224 with further decreased infection risk in SCA (p=0.028, RR=0.04).

Conclusion

These significant associations of IGF1R SNPs with infection suggest that this gene could play an important role in the immune function in SCA.

Abstract

Background and aim

Sickle cell anemia (SCA) is characterized by variable patterns of clinical expression. Polymorphisms linked to different genes have been associated with specific complications of the disease. Herein, we focused on the study of the association of 4 polymorphisms of Insulin like Growth Factor 1 receptor (IGF1R) gene with infections, which are the major cause of death in SCA.

Material and methods

This study involved 116 sickle cell patients among whom 58 SS have the same confirmed infectious phenotype. Allele-Specific PCR was performed for the study of rs1319868, whereas the PCR/sequencing method was carried out for rs1567811, rs2872060 and rs8041224.

Results

The results showed that rs1319868 and rs1567811 were associated with a decreased risk of infection among SS patients (p=0.038, RR=0.54; p=0.044, RR=0.56, respectively). Interestingly, the combination of different genotypes showed the association of the genotype GT of rs1319868 and the genotype CC of rs8041224 with further decreased infection risk in SCA (p=0.028, RR=0.04).

Conclusion

These significant associations of IGF1R SNPs with infection suggest that this gene could play an important role in the immune function in SCA.

Get Citation

Keywords

IGF1R; SCA; Infection

About this article
Title

Association of rs1319868, rs1567811 and rs8041224 of gene with infection among sickle cell anemia Tunisian patients

Journal

Acta Haematologica Polonica

Issue

Vol 47, No 4 (2016)

Pages

242-247

Published online

2016-10-01

DOI

10.1016/j.achaem.2016.10.004

Bibliographic record

Acta Haematol Pol 2016;47(4):242-247.

Keywords

IGF1R
SCA
Infection

Authors

Mouna Ben Sassi
Leila Chaouch
Miniar Kalai
Imen Moumni
Houyem Ouragini
Imen Darragi
Dorra Chaouachi
Imen Boudrigua
Raouf Hafsia
Salem Abbes

Regulations

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

By "Via Medica sp. z o.o." sp.k., ul. Świętokrzyska 73, 80–180 Gdańsk, Poland
tel.:+48 58 320 94 94, fax:+48 58 320 94 60, e-mail: journals@viamedica.pl