HLA-G 3'UTR gene polymorphisms and rheumatic heart disease: A familial study among South Indian population

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. © 2017 the author(s).