Immunoglobulin-like transcripts 6 (ILT6) polymorphism influences the anti-Ro60/52 autoantibody status in south Indian SLE patients

• Published in: Lupus 2014-10, Vol.23 (11), p.1149-1155
• Main Authors: Devaraju, P, Witte, T, Schmidt, RE, Gulati, R, Negi, VS
• Format: Article
• Language: English
• Subjects: Adult; Alleles; Antibodies; Antigens; Autoantibodies - immunology; Autoimmune diseases; Case-Control Studies; Disease; Female; Genes; Genetic Predisposition to Disease; Genotype; Humans; Immune system; Immunoglobulins; Immunology; India; Leukocytes; Lupus; Lupus Erythematosus, Systemic - genetics; Lupus Erythematosus, Systemic - immunology; Male; Medical education; Middle Aged; Mutation; Pathogenesis; Phenotype; Polymerase Chain Reaction; Polymorphism; Polymorphism, Genetic; Proteins; Receptors, Immunologic - genetics; Young Adult
• ISSN: 0961-2033; 1477-0962
• DOI: 10.1177/0961203314538107

Introduction Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder with complex etiology. Loss of immune tolerance against self-antigens results in activation of the immune system to produce autoantibodies, which in turn contribute to the clinical manifestations of the disease. Immune cells harbor a plethora of regulatory receptors. Immunoglobulin-like transcripts (ILTs) exhibit both immune activation and inhibitory properties. Genetic defects in genes encoding these receptors may predispose to development of autoimmune diseases secondary to loss of their function. The aim of our study was to analyze the presence or absence of the 6.7 kb segment in the ILT6 gene and its association with susceptibility to SLE and its different manifestations. Method A total of 188 SLE patients and 192 age-, sex similar-, ethnicity-matched controls were recruited. They were genotyped to test the presence or absence of the 6.7 kb segment of the ILT6 gene by polymerase chain reaction. Results The mutant allele lacking the 6.7 kb gene segment had an equal frequency in patients as well as controls (20% and 18%, respectively). The mutant allele was not associated with SLE or its clinical manifestations. However, the mutant allele was associated with the presence of anti-Ro60 (p = 0.0005, OR 3.5, 95% CI 1.8–7.1) and anti-Ro52 (p = 0.0027, OR 2.99, 95% CI 1.5–6.06) autoantibodies. Conclusion ILT6 deletion polymorphism does not appear to be a lupus susceptibility gene in South Indian Tamils, but may behave as a genetic modifier of autoantibody phenotype by influencing the production of anti-Ro60 and anti-Ro52 autoantibodies and thus indirectly contribute to autoimmune responses in SLE.