title: Gene polymorphisms of novel immunotolerant molecule BTLA: distribution of alleles, genotypes and haplotypes in Polish Caucasian population.
abstract: B and T lymphocyte attenuator (BTLA) is one of the members of immunoglobulin superfamily which, like CTLA-4 and PD-1, 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 q13.2 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 single-nucleotide polymorphisms (SNPs) were chosen on the basis of literature data. Additionally, the tag dSNP under linkage equilibrium r (2) > 0.8 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.
authors.affiliation: Department of Experimental Therapy, Institute of Immunology and Experimental Therapy, Polish Academy of Science, Weigla 12, 53-114, Wroclaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Partyka
authors.forename: Dariusz
authors.initials: D
authors.lastname: Woszczyk
authors.forename: Tomasz
authors.initials: T
authors.lastname: Strzała
authors.forename: Anna
authors.initials: A
authors.lastname: Szczepańska
authors.forename: Anna
authors.initials: A
authors.lastname: Tomkiewicz
authors.forename: Irena
authors.initials: I
authors.lastname: Frydecka
authors.forename: Lidia
authors.initials: L
authors.lastname: Karabon
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D001327:Autoimmune Diseases / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D009369:Neoplasms / Q000235:genetics; D010802:Phylogeny; D011044:Poland; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011971:Receptors, Immunologic / Q000235:genetics*; D013601:T-Lymphocytes / Q000378:metabolism; D044465:White People / Q000235:genetics
chemical_list: C482586:BTLA protein, human; D011971:Receptors, Immunologic