A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank
Celine A. Manigbas, Bharati Jadhav, Paras Garg, Mariya Shadrina, William Lee, Gabrielle Altman, Alejandro Martin-Trujillo, Andrew J. Sharp · 2024
Read A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank by Celine A. Manigbas, Bharati Jadhav, Paras Garg, Mariya Shadrina, William Lee, Gabrielle Altman, Alejandro Martin-Trujillo, Andrew J. Sharp (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11614882.txt.
Description
Between the gene variants genetics usually studies lies a stranger kind of variation: tandem repeats, stretches of DNA copied head-to-tail, whose length varies from person to person. Celine Manigbas and co-authors genotype those repeats directly in nearly one hundred seventy thousand UK Biobank participants and scan the whole phenome for effects, in a 2024 study.
Forty-seven repeats showed fine-mapped links to seventy-three traits, and three quarters of the testable links replicated in the American All of Us cohort. Beyond the known repeat-expansion diseases, everyday length differences mattered: a histidine repeat in one gene tracked hypertension risk, and another repeat near a signaling gene tracked heart rate. The hits cluster near gene expression and methylation control. The authors claim a slice of the genome's missing heritability for the repeats.
Catalog record
| CREATOR | Celine A. Manigbas, Bharati Jadhav, Paras Garg, Mariya Shadrina, William Lee, Gabrielle Altman, Alejandro Martin-Trujillo, Andrew J. Sharp |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 79 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |