title: Frequency distribution of autoimmunity associated FCGR3B gene copy number in Indian population.
abstract: Amongst several human genome variations, copy number variations (CNVs) are considered as an important source of variability contributing to susceptibility to wide range of diseases. Although CNV is scattered for genes throughout the human genome, several of autoimmunity related genes have CN variation and therefore play an important role in susceptibility to autoimmune diseases. The association of the Fc gamma receptor 3B (FCGR3B) gene copy number in autoimmunity is well characterized in various populations studied. The Fc gamma receptor is a low affinity, glycosylphosphatidylinositol-linked receptor for IgG molecule predominantly expressed on human neutrophils. The variable gene copy number of FCGR3B is found to be involved in the impaired clearance of immune complexes, which significantly contribute to the pathogenesis of several autoimmune diseases such as systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), type-1 diabetes and others. The FCGR3B copy number ranged from 0 to ≥ 2 copies per diploid genome in other populations, but yet not explored in Indian population. Hence, this study aims to evaluate the variation in the frequency distribution of FCGR3B CNV in Indian population. FCGR3B gene copy number varied significantly when compared to other population of the world. This observation will help us in exploring the potential role of CNV in FCGR3B gene and its association to autoimmune disorders in Indian population.
authors.affiliation: Department of Cell and Molecular Biology, B.V. Patel Pharmaceutical Education and Research Development (PERD) Centre, Thaltej, Ahmedabad, Gujarat, India.
authors.forename: S H
authors.initials: SH
authors.lastname: Almal
authors.forename: Harish
authors.initials: H
authors.lastname: Padh
mesh_terms: D001172:Arthritis, Rheumatoid / Q000235:genetics; D015551:Autoimmunity / Q000235:genetics* / Q000276:immunology; D056915:DNA Copy Number Variations / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D058851:GPI-Linked Proteins / Q000235:genetics; D018628:Gene Dosage / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007194:India; D008180:Lupus Erythematosus, Systemic / Q000235:genetics; D017452:Receptors, IgG / Q000235:genetics*
chemical_list: C428200:FCGR3B protein, human; D058851:GPI-Linked Proteins; D017452:Receptors, IgG