Yousry, S., G. Shahin, D. E. Demerdash, and N. E. L. Husseiny, "SDF-1(CXCL12) polymorphisms in Egyptian patients with systemic lupus erythematosus (SLE): a pilot study", Comp Clin Pathol, vol. 24, issue 2, 2015. Abstract

SDF-1(CXCL12) is a chemokine that plays an important
role in the regulation of migration, proliferation, and
differentiation of hematopoietic cells, as well as being involved
in the homeostatic and inflammatory traffic of leukocytes.
It was suggested that CXCL12 is a key molecule in the
development of autoimmunity in themurine model of lupus. It
has been demonstrated that SDF-1 has a G801A transition at
position 801 in the 3′-untranslated region of the transcript,
known as SDF-1-3′G801A. This polymorphism may have
an important regulatory function via an increase in the biosynthesis
of SDF-1 protein and has been reported in association
with autoimmune diseases, such as type 1 diabetes and systemic
sclerosis. We investigated the prevalence of SDF-1-3′
G801A genotype in Egyptian patients with systemic lupus
erythematosus (SLE) (n=50) and healthy controls (HC) (n=
50) and its relation to SLE manifestations. We found a significant
correlation between the SDF-1-3′G801A genotype and
the following SLE features: photosensitivity, nephritis,
serositis, and vasculitis, and also anticardiolipin antibodies.
Our observations suggest that the SDF-1-3′-G801A genotype
may be associated with some clinical and laboratory manifestations
in patients with SLE.

Ellithy, H. N., S. Yousri, and G. H. Shahin, "Relation between glutathione S-transferase genes (GSTM1, GSTT1, and GSTP1) polymorphisms and clinical manifestations of sickle cell disease in Egyptian patients", Hematology, 2015. Abstract

Objectives: Clinical manifestations of sickle cell disease (SCD) result from sickling of Hb S due to oxidation,
which is augmented by accumulation of oxygen-free radicals. Deficiencies in normal antioxidant protective
mechanism might lead to clinical manifestations of SCD like vaso-occlusive crisis (VOC) and acute chest
syndrome (ACS). The glutathione system plays an important role in the removal of endogenous products
of peroxidation of lipids, thus protecting cells and tissue against damage from oxidative stress.
Impairment of the glutathione system due to genetic polymorphisms of glutathione S-transferase (GST)
genes is expected to increase the severity of SCD manifestations. This report describes a case control
study aimed at studying the ethnic-dependent variation in the frequency of GST gene polymorphisms
among participants selected from the Egyptian population and to find out the association between GST
gene polymorphisms and the severity of SCD manifestations.
Methods: We measured the frequency distribution of the three GSTs gene polymorphisms in 100 Egyptian
adult SCD patients and 80 corresponding controls. GSTM1 and GSTT1 genotypes were determined by
multiplex polymerase chain reaction (PCR). GSTP1 genotyping was conducted with a PCR-restriction
fragment length polymorphism assay.
Results: The GSTM1 null genotype was significantly associated with ACS and VOC (P = 0.03 and 0.01,
respectively). The GSTT1 null genotype was associated with significantly increased requirement of blood
transfusion (P = 0.01). Absence of both GSTM1 and GSTT1 genes was significantly associated with
pulmonary hypertension (P = 0.04). The non-wild-type GSTP1 polymorphism was not associated with
clinical manifestations of SCD.
Discussion: Some GST gene polymorphisms were significantly associated with the worsening of the clinical
manifestations of SCD.

Shahin, R. M. H., N. H. M. Shaheen, G. H. Shahin, and R. M. E. Refai, "Association analysis of systemic lupus erythematosus and −1514 polymorphism of TBX21 gene in the Egyptian population", Comp Clin Pathol, vol. 21, issue 5, 2012. Abstract

The T-box21 (TBX21) gene encodes the transcription
factor T-bet (T-box expressed in T cells), which influences
naïve T lymphocyte development and has been implicated in
the pathogenesis of many diseases. We aimed to assess the
implication of the TBX21 gene promoter T-1514C polymorphism
in susceptibility to systemic lupus erythematosus (SLE)
in a cohort of Egyptian population and to study the association
between the genetic polymorphism of that gene and the clinical
and laboratory data of these patients. The study included 50
SLE patients. Sixty age, sex, and ethnically matched volunteers
were included in the current study as a control group. The
genotyping of T-1514C single nucleotide polymorphism was
performed by using a polymerase chain reaction–restriction
fragment length polymorphism assay. There was no statistically
significant difference in the distribution of the genotypes between
SLE patients and the control group in our study. No
association was detected between TBX21 genotypes and the
clinical features and laboratory data of the patients apart from
an association with the hematologic complications (anemia,
leucopenia, thrombocytopenia, or pancytopenia) with increased
frequency of hematological complications in the group carrying
the wild genotype (TT) (p00.016).