Three new single nucleotide polymorphisms identified by a genome-wide association study in Korean patients with vitiligo.
Three new single nucleotide polymorphisms identified by a genome-wide association study in Korean patients with vitiligo.
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DOI：
10.3346/jkms.2013.28.5.775
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发表时间：
2013-05
影响因子：
4.5
通讯作者：
Lee AY
中科院分区：
文献类型：
--
作者：
Cheong KA;Kim NH;Noh M;Lee AY
遗传易感性参与白癜风的发病机制。以全基因组为基础的关联研究，而不是单个或几个候选基因，可能有助于发现新的易感基因。虽然非节段型和节段型的病因不同，但基因多态性与白癜风的相关性已有报道，但没有定义类型或在非节段型中。采用AffysseGeneChip 500K基因芯片对非节段型和节段型白癜风患者进行全基因组单核苷酸多态性（SNP）检测，并筛选出10个功能性显著的SNP。使用实时PCR对选定的10个SNP进行基因分型和数据分析。基因型和等位基因频率在两种类型的白癜风和三个目标SNP之间存在显著差异，DNAH5（rs2277046），STRN3（rs2273171）和KIAA1005（rs3213758）。与非节段型白癜风相比，KIAA1005（rs3213758）突变与节段型白癜风之间存在更强的关联。DNAH5（rs2277046）、STRN3（rs2273171）和KIAA1005（rs3213758）可能是韩国患者中新的白癜风相关SNPs，无论是非节段型还是节段型。
Genetic susceptibility is involved in the pathogenesis of vitiligo. Association studies with a whole genome-based approach instead of a single or a few candidate genes may be useful for discovering new susceptible genes. Although the etiology of non-segmental and segmental types is different, the association between gene polymorphisms and vitiligo has been reported, without defining types or in non-segmental type. Whole genome-based single nucleotide polymorphisms (SNPs) were examined in patients with non-segmental and segmental types of vitiligo using the Affymetrix GeneChip 500K mapping array, and 10 functional classes of significant SNPs were selected. Genotyping and data analysis of selected 10 SNPs was performed using real-time PCR. Genotype and allele frequencies were significantly different between both types of vitiligo and three of the target SNPs, DNAH5 (rs2277046), STRN3 (rs2273171), and KIAA1005 (rs3213758). A stronger association was suggested between the mutation in KIAA1005 (rs3213758) and the segmental type compared to the non-segmental type of vitiligo. DNAH5 (rs2277046), STRN3 (rs2273171), and KIAA1005 (rs3213758) may be new vitiligo-related SNPs in Korean patients, either non-segmental or segmental type.
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影响因子：
4.5
作者：
Ren Y;Yang S;Xu S;Gao M;Huang W;Gao T;Fang Q;Quan C;Zhang C;Sun L;Liang Y;Han J;Wang Z;Zhang F;Zhou Y;Liu J;Zhang X
通讯作者：
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影响因子：
5
作者：
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通讯作者：
Kemp, EH
DOI：
10.1056/nejmoa0908547
发表时间：
2010-05-06
期刊：
The New England journal of medicine
影响因子：
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作者：
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通讯作者：
Spritz RA
影响因子：
9.8
作者：
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通讯作者：
Harley, JB
影响因子：
2.9
作者：
Bannai, M;Higuchi, K;Tokunaga, K
通讯作者：
Tokunaga, K