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Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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Identification of Three Loci Associated with Achilles Tendon Injury Risk from a Genome-wide Association Study.

Stuart K Kim¹, Condor Nguyen¹, Andy L Avins²

¹Department of Developmental Biology, Stanford University Medical School, Stanford, CA.

Medicine and Science in Sports and Exercise

|February 19, 2021

Summary

Researchers identified three genetic loci associated with Achilles tendon injury risk. This genome-wide association study provides new targets for understanding injury mechanisms and developing preventative strategies.

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Author Spotlight: Exploring the Complexities of Achilles Tendon Injuries — Research and Future Directions

Author Spotlight: Exploring the Complexities of Achilles Tendon Injuries — Research and Future Directions

Published on: October 27, 2023

Area of Science:

Genetics
Orthopedics
Sports Medicine

Background:

Achilles tendon injuries are common, yet genetic predispositions are not fully understood.
Identifying genetic risk factors can aid in prevention and targeted therapies.

Purpose of the Study:

To conduct a genome-wide association study (GWAS) to identify genetic markers linked to Achilles tendon injury (ATI).
To analyze genetic data from large cohorts to find novel associations with ATI risk.

Main Methods:

Genome-wide association analysis was performed on two large cohorts (Kaiser Permanente Research Board and UK Biobank) comprising 12,354 cases and 483,080 controls of European ancestry.
Logistic regression models adjusted for covariates were used to test single nucleotide polymorphisms (SNPs) for association with ATI.
Previously identified candidate genes were also evaluated for their association with ATI.

Main Results:

Three chromosomal loci demonstrated genome-wide significant association with Achilles tendon injury.
These loci include SNPs near the CDCP1/TMEM158 genes (chromosome 3), MPP7 gene (chromosome 10), and SOX21/GPR180 genes (chromosome 13).
No significant association was found for 14 previously reported candidate genes.

Conclusions:

Three novel genetic loci have been identified as potential risk factors for Achilles tendon injury.
These findings warrant further validation and investigation into the underlying molecular mechanisms.
This research opens avenues for understanding the genetic basis of Achilles tendon injuries.