Scholarlink

Background <p>Bipolar disorder (BD) is a severe mental disorder with high, approximately 70% heritability. Here, to identify novel risk genes of BD, we conducted whole-exome sequencing and pathway enrichment analyses across one multi-affected, southern Chinese Han pedigree.</p> Methods <p>Whole-exome sequencing (WES) was performed on five patients with BD and three unaffected members in one multi-affected pedigree. The analyses focused on variants that (i) were shared by affected members but were not present in the unaffected members, and (ii) were rare and damaging. Bioinformatic analyses, including Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses, were used for functional annotation and pathway analysis.</p> Results <p>We identified a rare and potentially damaging single nucleotide variations (SNVs) in <i>NTN1</i>, <i>MYH10</i>, and <i>RILP</i> that were shared by affected family members but were absent in unaffected members. Their functions were predicted to be associated with actin binding, substrate-dependent cell migration, actin cytoskeleton, and nucleotide excision repair.</p> Conclusion <p>Our findings suggest that <i>NTN1</i>, <i>MYH10</i>, and <i>RILP</i> may represent novel candidate risk genes for BD, although further validation in larger cohorts is needed.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Identification of candidate genes associated with bipolar disorder by whole-exome sequencing of a Chinese multi-affected pedigree

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年7月1日

查看全文
  • Yiyang Wang,
  • Zhen Xu,
  • Yinnan Zhang,
  • Hui Li

摘要

Background

Bipolar disorder (BD) is a severe mental disorder with high, approximately 70% heritability. Here, to identify novel risk genes of BD, we conducted whole-exome sequencing and pathway enrichment analyses across one multi-affected, southern Chinese Han pedigree.

Methods

Whole-exome sequencing (WES) was performed on five patients with BD and three unaffected members in one multi-affected pedigree. The analyses focused on variants that (i) were shared by affected members but were not present in the unaffected members, and (ii) were rare and damaging. Bioinformatic analyses, including Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses, were used for functional annotation and pathway analysis.

Results

We identified a rare and potentially damaging single nucleotide variations (SNVs) in NTN1, MYH10, and RILP that were shared by affected family members but were absent in unaffected members. Their functions were predicted to be associated with actin binding, substrate-dependent cell migration, actin cytoskeleton, and nucleotide excision repair.

Conclusion

Our findings suggest that NTN1, MYH10, and RILP may represent novel candidate risk genes for BD, although further validation in larger cohorts is needed.