| Title: | Pathway Association Studies Reveal Gene Loci and Pathway Networks that Associated With Plasma Cystatin C Levels |
| Journal: | Frontiers in Genetics |
| Published: | 25 Nov 2021 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/34899825/ |
| DOI: | https://doi.org/10.3389/fgene.2021.711155 |
| URL: | https://www.frontiersin.org/articles/10.3389/fgene.2021.711155/pdf |
Publication 10739
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Abstract
As a marker for glomerular filtration, plasma cystatin C level is used to evaluate kidney function. To decipher genetic factors that control the plasma cystatin C level, we performed genome-wide association and pathway association studies using United Kingdom Biobank data. One hundred fifteen loci yielded p values less than 1 × 10-100, three genes (clusters) showed the most significant associations, including the CST8-CST9 cluster on chromosome 20, the SH2B3-ATXN2 gene region on chromosome 12, and the SHROOM3-CCDC158 gene region on chromosome 4. In pathway association studies, forty significant pathways had FDR (false discovery rate) and or FWER (family-wise error rate) ≤ 0.001: spermatogenesis, leukocyte trans-endothelial migration, cell adhesion, glycoprotein, membrane lipid, steroid metabolic process, and insulin signaling pathways were among the most significant pathways that associated with the plasma cystatin C levels. We also performed Genome-wide association studies for eGFR, top associated genes were largely overlapped with those for cystatin C.</p>
5 Authors
- Hongxiao Jiao
- Miaomiao Zhang
- Yuan Zhang
- Yaogang Wang
- Wei-Dong Li
1 Application
| Application ID | Title |
|---|---|
| 45676 | The joint effects of genetic, lifestyle and environmental risk factors on common diseases and multimorbidity. |
Enabling scientific discoveries that improve human health