Exploration of psoriasis-susceptibility variants in germline and somatic cells by exome sequencing

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09785
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Dermatology
• Research Institution: Tokai University
• Principal Investigator: OKA Akira 東海大学, 総合医学研究所, 講師 (80384866)
• Co-Investigator(Kenkyū-buntansha): 池田 志斈 順天堂大学, 医学部, 教授 (40193198) ; 照井 正 日本大学, 医学部, 教授 (30172109) ; 佐野 栄紀 高知大学, 教育研究部医療学系臨床医学部門, 教授 (80273621) ; 馬渕 智生 東海大学, 医学部, 教授 (30408059)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 乾癬 / Superimposed linear / 体細胞変異 / 全ゲノムシークエンシング

Outline of Final Research Achievements

Any somatic mutations in psoriasis have never been investigated, though variants in the germline have been analyzed around the world. However, there should be disease-causing variants in not only germline but also somatic cells. Thus, cutaneous mosaicism may contribute to the psoriasis pathogenesis. Therefore, we investigated variants of affected and unaffected skin in superimposed linear psoriasis showing manifestations along Blaschko’s line by whole genome sequencing. We obtain the massive data from sequencing and are exploring DNA substitutions, LOH (loss of heterozygosity), CNV (copy number variant), and structural variant now.

Free Research Field

分子遺伝学