SUMMARY
Systemic lupus erythematosus is a chronic (long-term) disease that
causes systemic inflammation which affects multiple organs, as the
body's immune system mistakenly attacks many healthy tissues in the
body causing what is called (flares) which vary from mild to serious, so
most patients have times when the disease is active, followed by times of
remission. The exact cause of SLE is unknown. It is believed to develop
as a result of genetic and environmental influences
One gene with a proven contribution in SLE is IL1B gene. The IL1B
gene, located on chromosome 2q14.1 which belongs to a family of
proteins which play a role in enhancement of inflammation and host
defense through increasing peripheral cytokines in different organs.
Several variants of IL1β gene were identified and investigated for
association with SLE. IL1β (rs16944) was reported to be associated with
SLE and its activity while IL1β (rs1143634) was reported to be protective
in some studies.
Aim of this study:
To assess the genetic association between IL1β -511C/T (rs16944),
+3954 (rs1143634) and SLE among Egyptian patients.
This study was designated as case-control study, and conducted on a
total number of 100 subjects of both sexes were selected from the
Rheumatology department and outpatient clinic in Benha University
Hospital and general population. The subjects were categorized into 2
groups: Patient group: included 50 patients with SLE their ages ranged
from 19 years to 51 years (mean =34.9±8.9). Control group: included 50
Summary
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apparently healthy person aged and sex matched to the study group, their
ages ranging from 22 years to 40 years (mean =31.9±7.9)
All participants were subjected to the following:
Full history taking and clinical examination, in addition to laboratory
investigations including complete blood count (CBC), Albumin, ANA,
Anti ds DNA, C3, C4, liver function tests, kidney function tests, protein
in urine and genotyping investigation for determination of single
nucleotide polymorphism (SNP) genotype rs16944 (-511C/T) and
rs1143634 (+3954 C/T) analysis by quantitative Real Time PCR.
The results of the current study showed that:-
There was a statistical significant association between rs 16944 and
SLE cases, but there was no statistical significant association
between rs 1143634 and SLE cases.
TT genotype (rs16944) was significantly associated with SLEDAI,
Renal SLEDAI and SDI of SLE cases.
TT genotype (rs16944) was significantly associated with renal,
neurological disorders of SLE cases.
TT genotype (rs16944) was significantly associated with lower TLC,
anemia, thrombocytopenia and higher urinary protein.
No significant differences were found in SLEDAI, renal SLEDAI,
and SDI according to rs1143634 genotypes in all studied SLE cases.
No significant differences were found in SLE criteria between
rs1143634 genotypes in all studied SLE cases.
Summary
701
Logistic regression analysis was conducted for prediction of SLE
development using age, gender, family history, rs1143634, rs16944
genotypes as covariates. Positive family history, rs16944 (TC+TT)
were significantly associated with SLE occurrence in univariable
analysis. Taking significant covariates in univariable into
multivariable analysis revealed that rs16944 (TC+TT) were
independent risk predictors for SLE development.
Conclusion:
The present study concluded that IL1β -511C/T (rs16944) gene
polymorphism was found to be significantly associated with increased
risk of SLE development in Egyptians, and can be used in early detection
of the disease especially if the study applied to large scale.
IL1β -511C/T rs16944 (TT genotype) was associated with risk of
SLE development and associated with higher SLEDAI, renal SLEDAI
and SDI.
IL1β -511C/T rs16944 (TT genotype) was associated with renal,
hematologic and neurologic disorders |
