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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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Distribution of genotypes for BTLA gene polymorphisms in different populations on the basis of literature survey. [a] Fu et al. (2010), [b] Lin et al. (2006), [c] Oki et al. (2011), [d] Inuo et al. (2009). Distributions of genotypes were significantly different between Polish population and others Asian population compared separately, and compared with Asian population together (p < 0.0000025; with Bonfrerroni corrections)
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Fig2: Distribution of genotypes for BTLA gene polymorphisms in different populations on the basis of literature survey. [a] Fu et al. (2010), [b] Lin et al. (2006), [c] Oki et al. (2011), [d] Inuo et al. (2009). Distributions of genotypes were significantly different between Polish population and others Asian population compared separately, and compared with Asian population together (p < 0.0000025; with Bonfrerroni corrections)

Mentions: On the basis of a literature survey (Fu et al. 2010; Lin et al. 2006; Oki et al. 2011), we compared the genotype frequency for four SNPs (Fig. 2). The SNP rs9288952 was the most commonly investigated and there were data available from Chinese, Taiwanese and Japanese population. This polymorphism is situated in exon 4 and is a missense mutation. The nucleotide exchange causes amino acid residue change Pro-Leu in position 219. The literature data indicate that this SNP is associated with susceptibility to rheumatoid arthritis in the Japanese population and with breast cancer risk in Chinese women. We found statistically significant differences in genotype distribution between Polish and Chinese as well as Polish and Taiwanese populations (Fig. 2). For two other polymorphisms, rs1844089 and rs2705535, connected with breast cancer risk, only data from the Chinese population (Fu et al. 2010) were available. We found statistically significant differences in distribution of genotypes between Polish and Chinese populations.Fig. 2


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)

Distribution of genotypes for BTLA gene polymorphisms in different populations on the basis of literature survey. [a] Fu et al. (2010), [b] Lin et al. (2006), [c] Oki et al. (2011), [d] Inuo et al. (2009). Distributions of genotypes were significantly different between Polish population and others Asian population compared separately, and compared with Asian population together (p < 0.0000025; with Bonfrerroni corrections)
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

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

Fig2: Distribution of genotypes for BTLA gene polymorphisms in different populations on the basis of literature survey. [a] Fu et al. (2010), [b] Lin et al. (2006), [c] Oki et al. (2011), [d] Inuo et al. (2009). Distributions of genotypes were significantly different between Polish population and others Asian population compared separately, and compared with Asian population together (p < 0.0000025; with Bonfrerroni corrections)
Mentions: On the basis of a literature survey (Fu et al. 2010; Lin et al. 2006; Oki et al. 2011), we compared the genotype frequency for four SNPs (Fig. 2). The SNP rs9288952 was the most commonly investigated and there were data available from Chinese, Taiwanese and Japanese population. This polymorphism is situated in exon 4 and is a missense mutation. The nucleotide exchange causes amino acid residue change Pro-Leu in position 219. The literature data indicate that this SNP is associated with susceptibility to rheumatoid arthritis in the Japanese population and with breast cancer risk in Chinese women. We found statistically significant differences in genotype distribution between Polish and Chinese as well as Polish and Taiwanese populations (Fig. 2). For two other polymorphisms, rs1844089 and rs2705535, connected with breast cancer risk, only data from the Chinese population (Fu et al. 2010) were available. We found statistically significant differences in distribution of genotypes between Polish and Chinese populations.Fig. 2

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