Identification of the susceptive genes for atopic diseases using positional candidate gene approaches.

使用位置候选基因方法鉴定特应性疾病的易感基因。

• 批准号: 11470504
• 负责人: HAMAGUCHI Hideo
• 金额: $ 9.34万
• 依托单位: Institute of Basic Medical Sciences, University of Tsukuba
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B).
• 财政年份: 1999
• 资助国家: 日本
• 起止时间: 1999 至 2000
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-11470504/
• 关键词: atopic asthma; atopic dermatitis; linkage; maximum lod scores; ゲノムスキャン; 罹患同胞

Childhood-onset asthma is frequently found in association with atopy. We conducted a genomewide linkage search in 47 Japanese families (197 members) with more than two mite-sensitive atopic asthmatics (65 affected sib-pairs) using 398 markers. Multipoint linkage analysis was carried out for atopic asthma as a quantitative trait using the MAPMAKER/SIB program. We observed significant evidence for linkage with maximum lod scores (MLS) of 4.8 on 5q31-q33. In addition, suggestive evidence on 4q35 with MLS=2.7 and on 13q11 with MLS=2.4 was obtained. The other possible linkage regions included 6p22-p21.3 (MLS=2.1), 12q21-q23 (MLS=1.9), and 13q14.1-q14.3 (MLS=2.0). Furthermore, we observed suggestive evidence for linkage with atopic dermatitis on 5q31-q33 and 12q21-q23. These data suggest that the chromosome region of 5q31-q33 and 12q21-q23 may be common susceptive region of atopic asthma and atopic dermatitis.

儿童期发作的哮喘常与特应性有关。我们使用398个标记在47个日本家族（197名成员）中进行了全基因组连锁搜索，这些家族中有两个以上的螨敏感性特应性哮喘患者（65对受累同胞）。使用MAPMAKER/SIB程序对特应性哮喘作为数量性状进行多点连锁分析。我们观察到与5 q31-q33上4.8的最大lod评分（MLS）相关的显著证据。此外，4 q35与MLS=2.7和13 q11与MLS=2.4的提示性证据获得。其他可能的连锁区域包括6p 22-p21.3（MLS=2.1）、12 q21-q23（MLS=1.9）和13q14.1-q14.3（MLS=2.0）。此外，我们观察到与5 q31-q33和12 q21-q23上的特应性皮炎相关的提示性证据。提示5 q31-q33和12 q21-q23可能是特应性哮喘和特应性皮炎的共同易感区域。

项目成果

Yokouchi Y et al.: "A Significant Evidence for Linkage of Mite-Sensitive Childhood Asthma to Chromosome 5q31-q33 nearthe Interleukin 12 B Locus by A Genome-wide Search in Japanese families."Genomics. 66. 152-160 (2000)

Yokouchi Y 等人：“通过在日本家庭中进行全基因组搜索，发现螨敏感儿童哮喘与白细胞介素 12 B 基因座附近的染色体 5q31-q33 之间存在关联的重要证据。”基因组学。

Noguchi E et al.: "Mutation screening of Interferon regulatory factor 1 gene(IRF-1) as a candidate gen for asthma."Clin Exp Allergy. 30. 1563-1567 (2000)

Noguchi E 等人：“作为哮喘候选基因的干扰素调节因子 1 基因 (IRF-1) 的突变筛选。”Clin Exp Allergy。

Ishizawa M et al.: "No association between atopic asthma and a coding variant of Fc ε R1 β in a Japanese population"J Hum Genet. 44. 308-311 (1999)

Ishizawa M 等人：“日本人群中特应性哮喘与 Fc ε R1 β 的编码变体之间没有关联”J Hum Genet. 44. 308-311 (1999)

Noguchi E et al.: "Mutation screening of Interferon regulatory factor 1 gene (IRF-1) as a candidate gene for asthma."Clin Exp Allergy. 30. 1563-1567 (2000)

Noguchi E 等人：“作为哮喘候选基因的干扰素调节因子 1 基因 (IRF-1) 的突变筛选。”Clin Exp Allergy。

Kimura K et al.: "Linkage and association of atopic asthma to markers on chromosome 13 in the Japanese population."Hum Mol Genet. 8. 1487-1490 (1999)

Kimura K 等人：“日本人群中特应性哮喘与 13 号染色体标记的关联和关联。”Hum Mol Genet。