Identification of Functional Haplotypes in the Promoter Region of the LST1 Gene

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• 作者：Jeyoung Woo (1)
  Chaeyoung Lee (1)
  
• 关键词：LST1 ; Promoter ; Psoriasis ; Single nucleotide variant
• 刊名：Biochemical Genetics
• 出版年：2014
• 出版时间：August 2014
• 年：2014
• 卷：52
• 期：7-8
• 页码：365-371
• 全文大小：367 KB
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• 作者单位：Jeyoung Woo (1)
  Chaeyoung Lee (1)
  
  1. School of Systems Biomedical Science, Soongsil University, 511 Sangdo-dong, Dongjak-gu, Seoul, 156-743, Korea
  
• ISSN：1573-4927

文摘

Psoriasis, an inflammatory skin disease, was associated with a promoter variant (rs9267502; P?=?3.786?×?10?9) of LST1 that may regulate immune response and cellular morphogenesis. Promoter activity was examined to identify functional variants in the proximity of the associated variant. Five natural haplotypes (H1–H5) of four variants (rs7758790, rs9267502, rs41268884, rs17200775) in strong linkage disequilibrium were investigated. The most common haplotype (H1) was TGAG (frequency 0.78), and the second most frequent haplotype (H2) was CGGG (0.09). Luciferase assay was conducted using reporter constructs including each haplotype and firefly luciferase gene. As a result, promoter activity of H1 was smaller than the construct without the promoter region (P?P?>?0.05), and H2 promoter activity was larger than that of H1, H3, H4, and H5 (P?LST1 gene.