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Sushil Kumari Sangwan, Arundhati Sharma, Namrata Sharma, Neena Khanna, Tushar Agarwal, Rasik B. Vajpayee, ; A molecular genetics study on Stevens-Johnson Syndrome. Invest. Ophthalmol. Vis. Sci. 2014;55(13):6421.
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Stevens-Johnson syndrome (SJS) is an acute inflammatory vesiculobullous reaction of the skin and mucous membranes and corneal damage is the most severe long-term complication for survivors resulting in permanent visual loss. Genetic predisposition is postulated with the involvement of the MHC and interleukin loci along with raised levels of apoptotic markers. The present study reports on the molecular screening of the interleukin genes and levels of Granulysin and sFas-L in these patients.
One hundred sixty-five patients (78 females and 87 males) clinically diagnosed with SJS were recruited from the outpatient Department of Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS from July 2011-Oct 2013. Peripheral blood samples were used to isolate DNA and serum. Extracted DNA was used to perform PCR amplification followed by direct sequencing to look for changes in the interleukins IL-4, IL-4R and IL-13 and serum was used to check the levels of apoptotic markers by sandwich ELISA.
The patients were examined under slit-lamp and evaluated for typical characteristics of SJS like affected cornea, conjuctiva and eyelids. Screening of IL-13 coding region revealed reported A/G polymorphism (rs20541) in 38% patients, IL-4 revealed reported T/C change (rs2243250) in 35%. IL-4R analysis identified reported A/G polymorphism (rs1801275) in another 33% of individuals. IL-13 promoter region was also screened and C/T change (rs1800925) identified in 28% individuals. Novel changes were detected in IL-13 in about 3% of the individuals. Apoptotic markers showed raised levels of Granulysin (mean 5.6 ng/ml) and sFas-L (mean 146 pg/ml) in patients in comparison to healthy controls (1.47 ng/ml; 87 pg/ml respectively).
The present case-control study adds to the repertoire of SNPs, especially the IL-13 coding and promoter region showing novel as well as reported changes in the patients suggesting an important role for IL-13. Raised levels of Granulysin and sFas-L indicate the severity of disease. Together, these may be used to identify at risk individuals based on their genetic makeup and may in future facilitate better management of this uncommon condition.
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