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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2017

Open Access 01-12-2017 | Research article

“HLA-G 3′UTR gene polymorphisms and rheumatic heart disease: a familial study among South Indian population”

Authors: Maheshkumar Poomarimuthu, Sivakumar Elango, Sambath Soundrapandian, Jayalakshmi Mariakuttikan

Published in: Pediatric Rheumatology | Issue 1/2017

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Abstract

Background

Rheumatic heart disease (RHD) is an autoimmune disease where cross reactive CD4+ T cells are involved in the pathogenesis of valvular damage. Human Leukocyte Antigen-G (HLA-G), an immunosuppressive molecule playing a crucial role in the inhibition of T cell response is associated with the pathogenesis of various autoimmune and inflammatory diseases. Genetic polymorphisms within the 3′untranslated region (UTR) of HLA-G influences its expression and thus disease pathogenesis. Hence, the present study aims to unravel the association of 14 bp Ins/Del (rs66554220) and +3142 C/G (rs1063320) polymorphisms in 3′ UTR of HLA-G with RHD.

Methods

This familial study consists of 99 RHD families (99 RHD patients, 140 parents and 126 healthy siblings). The 14 bp Ins/Del and +3142 C/G polymorphisms were evaluated by PCR using sequence specific primers and its transmission disequilibrium (TD) was tested by TD test in 70 trio families.

Results

The frequency of +3142 C/C genotype was high in patients with combined valvular lesions (CVL) (OR = 5.88; pc = 0.012) and pooled RHD patients (P: OR = 2.76; p = 0.043; pc = 0.076) when compared to healthy siblings. Under the additive (OR = 5.50; pc = 0.026) and recessive genetic model (OR = 5.88; pc = 0.012), the +3142 C/C genotype was significantly associated with CVL in patients.

Conclusion

The results suggest that the +3142 C/C genotype may be associated with minor risk for the development of RHD and is more likely to influence the severity of the disease.
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Metadata
Title
“HLA-G 3′UTR gene polymorphisms and rheumatic heart disease: a familial study among South Indian population”
Authors
Maheshkumar Poomarimuthu
Sivakumar Elango
Sambath Soundrapandian
Jayalakshmi Mariakuttikan
Publication date
01-12-2017
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue 1/2017
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/s12969-017-0140-x

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