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Evaluation of PTPN22 polymorphisms and Vogt-Koyanagi-Harada disease in Japanese patients.

Horie Y, Kitaichi N, Katsuyama Y, Yoshida K, Miura T, Ota M, Asukata Y, Inoko H, Mizuki N, Ishida S, Ohno S - Mol. Vis. (2009)

Bottom Line: A total of 167 Japanese patients with VKH disease and 188 healthy Japanese controls were genotyped by direct sequencing methods for six SNPs (rs3811021, rs1217413, rs1237682, rs3761935, rs3789608, and rs2243471) of PTPN22 including the uncoding exons.The six SNPs in PTPN22 showed no significant association with susceptibility to VKH disease or its ocular, neurologic, or dermatological manifestation.Further studies are needed to clarify the genetic mechanisms underlying VKH disease.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Hokkaido University Graduate School of Medicine, Kita-ku, Sapporo, Japan. y-horie@med.hokudai.ac.jp

ABSTRACT

Purpose: Vogt-Koyanagi-Harada (VKH) disease is an autoimmune disorder against melanocytes. Polymorphisms of the protein tyrosine phosphatase non-receptor 22 gene (PTPN22) have recently been reported to be associated with susceptibility to several autoimmune diseases. In this study, genetic susceptibility to VKH disease was investigated by screening for single nucleotide polymorphisms (SNPs) of PTPN22.

Methods: A total of 167 Japanese patients with VKH disease and 188 healthy Japanese controls were genotyped by direct sequencing methods for six SNPs (rs3811021, rs1217413, rs1237682, rs3761935, rs3789608, and rs2243471) of PTPN22 including the uncoding exons.

Results: The six SNPs in PTPN22 showed no significant association with susceptibility to VKH disease or its ocular, neurologic, or dermatological manifestation.

Conclusions: Further studies are needed to clarify the genetic mechanisms underlying VKH disease.

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Related in: MedlinePlus

PTPN22 structure with two transcript isoforms and six SNP. Six SNP variants with minor allele frequencies 15% from the database of Japanese Single Nucleotide Polymorphisms. The black and white areas in the exons indicate the UTR and coding region, respectively.
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f1: PTPN22 structure with two transcript isoforms and six SNP. Six SNP variants with minor allele frequencies 15% from the database of Japanese Single Nucleotide Polymorphisms. The black and white areas in the exons indicate the UTR and coding region, respectively.

Mentions: DNA was prepared from peripheral blood specimens using the QIAamp DNA Blood Mini Kit (Qiagen, Tokyo, Japan). Six SNPs (rs3811021, rs1217413, rs1237682, rs3761935, rs3789608, and rs2243471) from the PTPN22 region were examined (Figure 1). Each of the six SNPs was amplified by standard polymerase chain reactions (PCRs; Table 1). After purification using ExoSAP-IT (USB Corporation, Cleveland, OH), the PCR products were sequenced with Big Dye Terminator v3.1 (Applied Biosystems, Foster City, CA) using either sense or antisense primers (Table 1). The BigDye XTerminator Purification Kit (Applied Biosystems) was used to purify the DNA from sequencing reactions. The sequencing reactions were analyzed using an ABI3130 sequencer (Applied Biosystems).


Evaluation of PTPN22 polymorphisms and Vogt-Koyanagi-Harada disease in Japanese patients.

Horie Y, Kitaichi N, Katsuyama Y, Yoshida K, Miura T, Ota M, Asukata Y, Inoko H, Mizuki N, Ishida S, Ohno S - Mol. Vis. (2009)

PTPN22 structure with two transcript isoforms and six SNP. Six SNP variants with minor allele frequencies 15% from the database of Japanese Single Nucleotide Polymorphisms. The black and white areas in the exons indicate the UTR and coding region, respectively.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2690962&req=5

f1: PTPN22 structure with two transcript isoforms and six SNP. Six SNP variants with minor allele frequencies 15% from the database of Japanese Single Nucleotide Polymorphisms. The black and white areas in the exons indicate the UTR and coding region, respectively.
Mentions: DNA was prepared from peripheral blood specimens using the QIAamp DNA Blood Mini Kit (Qiagen, Tokyo, Japan). Six SNPs (rs3811021, rs1217413, rs1237682, rs3761935, rs3789608, and rs2243471) from the PTPN22 region were examined (Figure 1). Each of the six SNPs was amplified by standard polymerase chain reactions (PCRs; Table 1). After purification using ExoSAP-IT (USB Corporation, Cleveland, OH), the PCR products were sequenced with Big Dye Terminator v3.1 (Applied Biosystems, Foster City, CA) using either sense or antisense primers (Table 1). The BigDye XTerminator Purification Kit (Applied Biosystems) was used to purify the DNA from sequencing reactions. The sequencing reactions were analyzed using an ABI3130 sequencer (Applied Biosystems).

Bottom Line: A total of 167 Japanese patients with VKH disease and 188 healthy Japanese controls were genotyped by direct sequencing methods for six SNPs (rs3811021, rs1217413, rs1237682, rs3761935, rs3789608, and rs2243471) of PTPN22 including the uncoding exons.The six SNPs in PTPN22 showed no significant association with susceptibility to VKH disease or its ocular, neurologic, or dermatological manifestation.Further studies are needed to clarify the genetic mechanisms underlying VKH disease.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Hokkaido University Graduate School of Medicine, Kita-ku, Sapporo, Japan. y-horie@med.hokudai.ac.jp

ABSTRACT

Purpose: Vogt-Koyanagi-Harada (VKH) disease is an autoimmune disorder against melanocytes. Polymorphisms of the protein tyrosine phosphatase non-receptor 22 gene (PTPN22) have recently been reported to be associated with susceptibility to several autoimmune diseases. In this study, genetic susceptibility to VKH disease was investigated by screening for single nucleotide polymorphisms (SNPs) of PTPN22.

Methods: A total of 167 Japanese patients with VKH disease and 188 healthy Japanese controls were genotyped by direct sequencing methods for six SNPs (rs3811021, rs1217413, rs1237682, rs3761935, rs3789608, and rs2243471) of PTPN22 including the uncoding exons.

Results: The six SNPs in PTPN22 showed no significant association with susceptibility to VKH disease or its ocular, neurologic, or dermatological manifestation.

Conclusions: Further studies are needed to clarify the genetic mechanisms underlying VKH disease.

Show MeSH
Related in: MedlinePlus