Genome-wide search for a candidate gene in systemic lupus erythematosus

全基因组搜索系统性红斑狼疮候选基因

• 批准号: 21790991
• 负责人: KITAMURA Akiko
• 金额: $ 2.75万
• 依托单位: The University of Tokushima
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (B)
• 财政年份: 2009
• 资助国家: 日本
• 起止时间: 2009 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-21790991/
• 关键词: 全身性エリテマトーデス; ポジショナルクローニング

Systemic lupus erythematosus (SLE) is a multifactorial disease in which both genetic and environmental factors are involved. Genome wide association studies revealed many predisposing genes to common forms of SLE. However, those studies have failed to identify genes that strongly contribute to the pathogenesis of SLE. We found one consanguineous SLE family, which consists of 3 affected and 1 unaffected sibling. To identify the underlying gene, we performed a homozygosity mapping and revealed two homozygous regions (FSLE-1, FSLE-2) that spanned 0.7 Mb and 1.1 Mb, respectively. MLOD score was 1.7 and 2.5, respectively. The FSLE-1 did not contain any gene, but the FSLE-2 region contained 40 known and predicted genes. We plan to perform the capture-resequencing analysis of the FSLE-2 region.

系统性红斑狼疮（SLE）是一种遗传和环境因素共同参与的多因素疾病。全基因组关联研究揭示了许多常见形式SLE的易感基因。然而，这些研究未能确定基因，强烈有助于SLE的发病机制。我们发现了一个SLE家系，包括3个患病同胞和1个未患病同胞。为了确定潜在的基因，我们进行了纯合性定位，并揭示了两个纯合区域（FSLE-1，FSLE-2），分别跨越0.7 Mb和1.1 Mb。MLOD评分分别为1.7和2.5。FSLE-1不包含任何基因，但FSLE-2区域包含40个已知和预测的基因。我们计划对FSLE-2区域进行捕获-重测序分析。

项目成果

Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains

• DOI: 10.1093/hmg/ddp232
• 发表时间: 2009-08-15
• 期刊: HUMAN MOLECULAR GENETICS
• 影响因子: 3.5
• 作者: Shono, Akemi;Tsukaguchi, Hiroyasu;Iijima, Kazumoto
• 通讯作者: Iijima, Kazumoto

Notch signaling drives IL-22 secretion in CD4+ T cells by stimulating the aryl hydrocarbon receptor

• DOI: 10.1073/pnas.0911755107
• 发表时间: 2010-03-30
• 期刊: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
• 影响因子: 11.1
• 作者: Alam, Muhammad Shamsul;Maekawa, Yoichi;Yasutomo, Koji
• 通讯作者: Yasutomo, Koji

Identification of a candidate locus in familial systemic lupus erythematosus by homozygosity mapping

通过纯合性作图鉴定家族性系统性红斑狼疮的候选基因座

• 发表时间: 2009
• 作者: Akiko Kitamura;Koji Yasutomo
• 通讯作者: Koji Yasutomo

Identification of a candidate locus in familial systemic lupuservthematosus by homozygosity mapping

通过纯合性作图鉴定家族性系统性红斑狼疮的候选基因座

• 发表时间: 2009
• 作者: Akiko Kitamura;Koji Yasutomo;北村明子
• 通讯作者: 北村明子

Notch signaling regulates the development of a novel type of Thy1-expressing dendritic cell in the thymus

• DOI: 10.1002/eji.201041159
• 发表时间: 2011-05-01
• 期刊: EUROPEAN JOURNAL OF IMMUNOLOGY
• 影响因子: 5.4
• 作者: Ishifune, Chieko;Maekawa, Yoichi;Yasutomo, Koji
• 通讯作者: Yasutomo, Koji