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Online Journal of Bioinformatics ©
Volume 16(3): 327-343, 2015.
Gene expression in sickle cell patients: Putative genes
associated with variability in pleiotropic phenotype
1,2Das
I MSc, 3Mishra H MBBS
MTech PhD, 3Khodiar PK MBBS
MD, 1,3*Patra PK MBBS
MD.
1Pt. J.N.M. Medical College, Raipur, 2 Surguja University, Ambikapur, 3Sickle
Cell Institute Chhattisgarh, Raipur, India.
.
ABSTRACT
Das
I, Mishra H, Khodiar PK, Patra PK., Gene expression
in sickle cell patients: Putative genes associated with variability in
pleiotropic phenotype, Onl J Bioinform.,
16(3):
327-343, 2015. Sickle cell disease (SCD)
is a hemoglobinpathy prevalent in areas of India.
Clinical features are pleiotropic due to anemia, vaso-occlusion
and inflammation, leading to gradual multiple organ failure. Vaso-occlusive crisis (VOC) is a common cause of severe
pain and morbidity. We evaluate gene expression in patients of SCD for
up-regulated genes in VOC to find putative genes associated with variability in
phenotype. Seven subjects from sickle cell steady (HbSS
SS) and 7 from VOC groups (HbSS VOC), and 6 healthy
controls (HbAA) were studied. Whole blood
transcriptome was compared between groups. 154 and 84 genes were found to be
up-regulated in HbSS VOC and HbSS
SS respectively, compared with HbAA subjects.
Similarly, 6 genes were found to be up-regulated in HbSS
VOC compared to HbSS SS (gene expression fold change
cut-off ≥2, corrected p-value of <0.05) subjects. Annotation and
pathway analysis was performed for up-regulated genes. Pathway analyses showed
that majority of genes belonged to inflammatory and stress response, cell
signaling and cell cycle regulation. Validation of gene expression was done
through quantitative real time PCR (qRT PCR).
Polymorphisms in these genes may be studied for their possible implication in
pleiotropic phenotype of SCD.
Key words:
Sickle cell disease, Vaso-occlusive crisis, Gene
expression, Pleiotropic phenotype, Candidate genes.
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