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Gene polymorphisms of novel immunotolerant molecule BTLA: distribution of alleles, genotypes and haplotypes in Polish Caucasian population.

Partyka A, Woszczyk D, Strzała T, Szczepańska A, Tomkiewicz A, Frydecka I, Karabon L - Arch. Immunol. Ther. Exp. (Warsz.) (2014)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Experimental Therapy, Institute of Immunology and Experimental Therapy, Polish Academy of Science, Weigla 12, 53-114, Wroclaw, Poland.

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.

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Phylogenetic tree presenting relationship between five ethnically different human populations (CEU CEPH (Utah residents with ancestry from northern and western Europe); YRI Yoruba in Ibadan, Nigeria; JPT Japanese in Tokyo, Japan; CHB Han Chinese in Beijing, China) created with SNP frequency data. Numbers along nodes are bootstrap values
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Fig1: Phylogenetic tree presenting relationship between five ethnically different human populations (CEU CEPH (Utah residents with ancestry from northern and western Europe); YRI Yoruba in Ibadan, Nigeria; JPT Japanese in Tokyo, Japan; CHB Han Chinese in Beijing, China) created with SNP frequency data. Numbers along nodes are bootstrap values

Mentions: Phylogenetic tree obtained in our study showed clear division into three clades (Fig. 1). First clade was consisted of Polish and Caucasian (CEU) populations, second with Japanese (JPT) and Chinese (CHB) populations and third one with African population (YRI). Obtained results indicated that Polish population is ethnically and genetically closest to Caucasian population (represented in this analysis by CEPH population which was derived from European ancestors). Furthermore, both Caucasian populations were different from Japanese and Chinese populations (which were closest to each other) and all aforementioned populations were distinct from African population.Fig. 1


Gene polymorphisms of novel immunotolerant molecule BTLA: distribution of alleles, genotypes and haplotypes in Polish Caucasian population.

Partyka A, Woszczyk D, Strzała T, Szczepańska A, Tomkiewicz A, Frydecka I, Karabon L - Arch. Immunol. Ther. Exp. (Warsz.) (2014)

Phylogenetic tree presenting relationship between five ethnically different human populations (CEU CEPH (Utah residents with ancestry from northern and western Europe); YRI Yoruba in Ibadan, Nigeria; JPT Japanese in Tokyo, Japan; CHB Han Chinese in Beijing, China) created with SNP frequency data. Numbers along nodes are bootstrap values
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4289528&req=5

Fig1: Phylogenetic tree presenting relationship between five ethnically different human populations (CEU CEPH (Utah residents with ancestry from northern and western Europe); YRI Yoruba in Ibadan, Nigeria; JPT Japanese in Tokyo, Japan; CHB Han Chinese in Beijing, China) created with SNP frequency data. Numbers along nodes are bootstrap values
Mentions: Phylogenetic tree obtained in our study showed clear division into three clades (Fig. 1). First clade was consisted of Polish and Caucasian (CEU) populations, second with Japanese (JPT) and Chinese (CHB) populations and third one with African population (YRI). Obtained results indicated that Polish population is ethnically and genetically closest to Caucasian population (represented in this analysis by CEPH population which was derived from European ancestors). Furthermore, both Caucasian populations were different from Japanese and Chinese populations (which were closest to each other) and all aforementioned populations were distinct from African population.Fig. 1

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Experimental Therapy, Institute of Immunology and Experimental Therapy, Polish Academy of Science, Weigla 12, 53-114, Wroclaw, Poland.

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.

Show MeSH
Related in: MedlinePlus