Transcriptome‐wide association identifies <i>KLC1</i> as a regulator of mitophagy in non‐syndromic cleft lip with or without palate

This study investigated pathogenic genes associated with non-syndromic cleft lip with or without cleft palate (NSCL/P) through transcriptome-wide association studies (TWAS). By integrating expression quantitative trait loci (eQTL) data with genome-wide association study (GWAS) data, we identified key susceptibility genes, including <i>KLC1</i>. Notably, the variant rs12884809 G>A was associated with an increased risk of NSCL/P by enhancing the binding of the transcription factor ELK1 to the <i>KLC1</i> promoter, thereby activating its expression. This alteration in <i>KLC1</i> expression subsequently impacted mitophagy, leading to significant changes in cellular behavior and zebrafish morphology. Our findings illuminate the genetic mechanisms underlying NSCL/P and provide valuable insights for future prevention strategies and a deeper understanding of this condition.

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Publication Details

Journal
iMeta
Published
2024-12-01
DOI
https://doi.org/10.1002/imt2.262
Citations
3
Primary Topic
Cleft Lip and Palate Research
Type
article
Field-Weighted Citation Impact
1.65

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article

Transcriptome‐wide association identifies KLC1 as a regulator of mitophagy in non‐syndromic cleft lip with or without palate

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iMeta
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Transcriptome‐wide association identifies KLC1 as a regulator of mitophagy in non‐syndromic cleft lip with or without palate

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article en
3 citations

Abstract

This study investigated pathogenic genes associated with non-syndromic cleft lip with or without cleft palate (NSCL/P) through transcriptome-wide association studies (TWAS). By integrating expression quantitative trait loci (eQTL) data with genome-wide association study (GWAS) data, we identified key susceptibility genes, including <i>KLC1</i>. Notably, the variant rs12884809 G>A was associated with an increased risk of NSCL/P by enhancing the binding of the transcription factor ELK1 to the <i>KLC1</i> promoter, thereby activating its expression. This alteration in <i>KLC1</i> expression subsequently impacted mitophagy, leading to significant changes in cellular behavior and zebrafish morphology. Our findings illuminate the genetic mechanisms underlying NSCL/P and provide valuable insights for future prevention strategies and a deeper understanding of this condition.

iMetaVol. 3(6)
Xinjiang Medical University (CN), First Affiliated Hospital of Xinjiang Medical University (CN), Nanjing Medical University (CN)
National Natural Science Foundation of China, Government of Jiangsu Province, Natural Science Foundation of Jiangsu Province, Jiangsu Provincial Key Research and Development Program
Zero hunger
Openalex Percentile: Top 14%
Cleft Lip and Palate Research
1.65
DOIOpen Access PDFOpenAlex
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