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Frequency distribution of autoimmunity associated FCGR 3B gene copy number in Indian population
Author(s) -
Almal S. H.,
Padh Harish
Publication year - 2015
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/iji.12165
Subject(s) - copy number variation , biology , genetics , population , autoimmunity , gene , human genome , genome , immunology , immune system , medicine , environmental health
Summary Amongst several human genome variations, copy number variations ( CNV s) 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 ( FCGR 3B ) 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 FCGR 3B 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 FCGR 3B 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 FCGR 3B CNV in Indian population. FCGR 3B 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 FCGR 3B gene and its association to autoimmune disorders in Indian population.