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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

D' score for the six SNPs studied across the PTPN22 haplotype. Black cells indicate that D' is greater than 0.9. Upper: patient population, lower: control population. The figure indicates that the six SNPs were in all the same haplotype block.
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f2: D' score for the six SNPs studied across the PTPN22 haplotype. Black cells indicate that D' is greater than 0.9. Upper: patient population, lower: control population. The figure indicates that the six SNPs were in all the same haplotype block.

Mentions: Allele frequencies for the six SNPs covering the gene were in Hardy–Weinberg equilibrium in both the patients and controls. The allelic frequency of each SNP in both groups was nearly equal, and no association was detected when compared independently (odds ratio, OR 1.14–1.35; Table 2). Stratifying the patients by the presence of diffuse choroiditis, sunset glow fundus, nummular chorioretinal depigmented spots, neurologic auditory involvement, meningismus, tinnitus, cerebrospinal fluid pleocytosis, or integumentary findings also revealed no evidence of association in VKH disease (data not shown). We calculated pairwise D’ values for all SNP pairs in PTPN22 (Figure 2). The pairwise D’ values in the gene were nearly 1 among almost all SNP pairs, indicating the SNPs were highly associated with each other and the entire PTPN22 was contained within a single LD block. Haplotype analysis predicted and revealed that PTPN22 was not associated with VKH disease in this Japanese cohort (data not shown).


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)

D' score for the six SNPs studied across the PTPN22 haplotype. Black cells indicate that D' is greater than 0.9. Upper: patient population, lower: control population. The figure indicates that the six SNPs were in all the same haplotype block.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f2: D' score for the six SNPs studied across the PTPN22 haplotype. Black cells indicate that D' is greater than 0.9. Upper: patient population, lower: control population. The figure indicates that the six SNPs were in all the same haplotype block.
Mentions: Allele frequencies for the six SNPs covering the gene were in Hardy–Weinberg equilibrium in both the patients and controls. The allelic frequency of each SNP in both groups was nearly equal, and no association was detected when compared independently (odds ratio, OR 1.14–1.35; Table 2). Stratifying the patients by the presence of diffuse choroiditis, sunset glow fundus, nummular chorioretinal depigmented spots, neurologic auditory involvement, meningismus, tinnitus, cerebrospinal fluid pleocytosis, or integumentary findings also revealed no evidence of association in VKH disease (data not shown). We calculated pairwise D’ values for all SNP pairs in PTPN22 (Figure 2). The pairwise D’ values in the gene were nearly 1 among almost all SNP pairs, indicating the SNPs were highly associated with each other and the entire PTPN22 was contained within a single LD block. Haplotype analysis predicted and revealed that PTPN22 was not associated with VKH disease in this Japanese cohort (data not shown).

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