Gene Polymorphisms of Novel Immunotolerant Molecul

Authors: Anna Partyka Dariusz Woszczyk Tomasz Strzała Anna Szczepańska Anna Tomkiewicz Irena Frydecka Lidia Karabon

Publish Date: 2014/09/03

Volume: 63, Issue: 1, Pages: 73-78

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Abstract

B and T lymphocyte attenuator BTLA is one of the members of immunoglobulin superfamily which like CTLA4 and PD1 is involved in down regulation of immune response Despite the important role of BTLA in maintaining immune homeostasis relatively little studies were devoted to the relationship of polymorphisms in the gene encoding BTLA with susceptibility to autoimmune disease and cancer Moreover all published works were done in Asian populations BTLA gene is located on chromosome 3 in q132 and consists of five exons The aim of this study was to investigate the alleles genotypes and haplotypes frequency of selected BTLA gene polymorphisms in Caucasian population originating from Poland For this study the singlenucleotide polymorphisms SNPs were chosen on the basis of literature data Additionally the tag dSNP under linkage equilibrium r 2  08 and available at the National Center for Biotechnology Information NCBI for Caucasian population of rare alleles at a frequency greater than 5  have been chosen using the NCBI database The ten BTLA SNPs investigated were rs1844089 rs2705535 rs9288952 rs9288953 rs1982809 rs2633580 rs2705511 rs2705565 rs76844316 rs16859633 For all SNPs selected on the basis of literature data the significantly different distributions of genotypes between Asian and Caucasian populations were observed

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