title: "HLA-G 3'UTR gene polymorphisms and rheumatic heart disease: a familial study among South Indian population".
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Immunology, School of Biological Sciences, Madurai Kamaraj University, Madurai, 625 021, Tamil Nadu, India.
authors.forename: Maheshkumar
authors.initials: M
authors.lastname: Poomarimuthu
authors.affiliation: Institute of Child Health and Research Centre, Government Rajaji Hospital, Madurai, Tamil Nadu, India.
authors.forename: Sivakumar
authors.initials: S
authors.lastname: Elango
authors.affiliation: Institute of Child Health and Research Centre, Government Rajaji Hospital, Madurai, Tamil Nadu, India.
authors.forename: Sambath
authors.initials: S
authors.lastname: Soundrapandian
authors.affiliation: Department of Immunology, School of Biological Sciences, Madurai Kamaraj University, Madurai, 625 021, Tamil Nadu, India. jayalakshmim@genomicsmku.org.
authors.forename: Jayalakshmi
authors.initials: J
authors.lastname: Mariakuttikan
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D002648:Child; D005260:Female; D005838:Genotype; D059951:HLA-G Antigens / Q000235:genetics*; D006801:Humans; D007194:India / Q000208:ethnology; D015810:Linkage Disequilibrium; D008297:Male; D010865:Pilot Projects; D011110:Polymorphism, Genetic / Q000235:genetics*; D012189:Retrospective Studies; D012214:Rheumatic Heart Disease / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D059951:HLA-G Antigens
keywords: Autoimmunity; Human leukocyte antigen G; Polymorphism; Rheumatic fever; Rheumatic heart disease