Lack of association of TNFAIP3 polymorphism with rheumatic heart disease in Saudi population
Journal Title: IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) - Year 2019, Vol 18, Issue 2
Abstract
Rheumatic heart disease (RHD) is an autoimmune disease developed subsequently to Streptococcus infection. RHD is still causing acquired heart problems in children in many developing countries. TNFAIP3 encodes the ubiquitin-modifying enzyme (A20), an important negative regulator in different inflammatory pathways. Polymorphisms in TNFAIP3 have been reported to be associated with several inflammatory diseases. Tagging single nucleotide polymorphisms (tSNP), rs2230926, on chromosome 6q23, have been associated with RHD in Chinese population. In our study we evaluated the association of TNFAIP3 tSNP rs2230926 with RHD in Saudi population. TNFAIP3 tSNP was studied in 124 RHD patients and 205 controls by TaqMan allelic discrimination assay. Carditis was found in 100% in our patients, while arthritis was found in 53%. The genotype frequency of the polymorphism (TT, TC, and CC) in the control group was 58, 33, and 9%, and in the patient group was 48, 40, and 11%, respectively. There was no significant differences. Furthermore, subgroup analysis for the patients found no significant differences between the subgroups and controls. Our data suggest that TNFAIP3 tSNP rs2230926 examined in this study has no role in predicting the occurrence and severity of RHD in Saudi patients.
Authors and Affiliations
Khalid M Al- Harbi
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