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DNase1 exon2 analysis in Tunisian patients with rheumatoid arthritis, systemic lupus erythematosus and Sjögren syndrome and healthy subjects

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Abstract

Autoimmune diseases (AID) are caused by the loss of immunological tolerance against self-antigens. The deoxyribonuclease I (DNASE1) gene seems to participate in the genetic susceptibility of some AID. In fact, two mutations were reported among systemic lupus erythematosus (SLE) patients from Japan and Spain (the 172 A → T mutation (K5X) and the 46_72 deletion, respectively). The aim of our work was to evaluate the DNASE1 contribution in the genetic susceptibility of rheumatoid arthritis (RA, n = 151), Sjögren syndrome (SS, n = 55) and SLE (n = 34) in Tunisia. DNA from patients and healthy subjects (n = 232) were explored. Both reported mutations were absent among patient and control subjects. The DNASE1 exon2 sequence was analysed among 26 control subjects to identify new polymorphic variations that are possible. Five known SNPs were explored. The G/T transversion (rs8176927: R2S) was the most polymorphic functional nonsynonymous SNP. Using PCR-RFLP method, all DNAs were genotyped for rs8176927 for a case–control design. The statistical analysis showed no significant differences between patients and controls genotype data. In conclusion, our study showed, on the one hand, the absence of the K5X mutation and the 46_72 deletion in Tunisian patients affected with RA, SS and SLE and healthy subjects, and, on the other hand, the absence of association between the R2S polymorphism and the genetic susceptibility of RA, SS and SLE.

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Abbreviations

AID:

Autoimmune diseases

ANA:

Anti-nuclear antibodies

DNASE1:

Deoxyribonuclease 1

ds:

Double strand

HETObs :

Observed heterozygosity

PCR-RFLP:

Polymerase chain reaction-restriction fragment length polymorphism

RA:

Rheumatoid arthritis

SLE:

Systemic lupus erythematosus

SNP:

Single nucleotide polymorphism

SS:

Sjögren syndrome

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Acknowledgments

This work was supported by the Ministère de l’enseignement supérieure de la Recherche Scientifique et de la Technologie (Tunisia) and the International Center for Genetic Engineering and Biotechnology (ICGEB) (Italy). We thank LGMH (Laboratoire de Génétique Moléculaire Humaine, faculté de Médecine de Sfax) members for the technical help. We are also very grateful for discussions with Dr. Saber Masmoudi.

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Authors and Affiliations

  1. Unité Cibles pour le Diagnostic et la Thérapie, Centre de Biotechnologie de Sfax, Route Sidi Mansour Km 6., BP 1177, 3018, Sfax, Tunisia

    Salima Belguith-Maalej, Hassen Hadj-Kacem & Hammadi Ayadi

  2. Service de Médecine interne, CHU Hédi-Chaker, Sfax, Tunisia

    Neila Kaddour & Zouhir Bahloul

Authors
  1. Salima Belguith-Maalej
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  2. Hassen Hadj-Kacem
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  3. Neila Kaddour
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  4. Zouhir Bahloul
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  5. Hammadi Ayadi
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Correspondence to Hassen Hadj-Kacem.

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Belguith-Maalej, S., Hadj-Kacem, H., Kaddour, N. et al. DNase1 exon2 analysis in Tunisian patients with rheumatoid arthritis, systemic lupus erythematosus and Sjögren syndrome and healthy subjects. Rheumatol Int 30, 69–74 (2009). https://doi.org/10.1007/s00296-009-0917-4

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