Finally Some Honest Reporting of GWAS for a Change

Finally Some Honest Reporting of GWAS for a Change

Kudos to Leroy Hood, Stuart Kim and colleagues for not publishing yet another hyped up GWAS study.

Whole-Genome Sequencing of the Worlds Oldest People

Supercentenarians (110 years or older) are the worlds oldest people. Seventy four are alive worldwide, with twenty two in the United States. We performed whole-genome sequencing on 17 supercentenarians to explore the genetic basis underlying extreme human longevity. We found no significant evidence of enrichment for a single rare protein-altering variant or for a gene harboring different rare protein altering variants in supercentenarian compared to control genomes.

Here is what being honest gets you - being ridiculed by a busy Berkeley math professor, who could not look up the rest of the abstract.


The authors of GWAS study indeed tried to follow up with their best hit on another 99 long-lived individuals.

We followed up on the gene most enriched for rare protein-altering variants in our cohort of supercentenarians, TSHZ3, by sequencing it in a second cohort of 99 long-lived individuals but did not find a significant enrichment.

The following part of the abstract rings death knell to the nascent industry trying to predict future diseases of healthy people by from their genomes.

The genome of one supercentenarian had a pathogenic mutation in DSC2, known to predispose to arrhythmogenic right ventricular cardiomyopathy, which is recommended to be reported to this individual as an incidental finding according to a recent position statement by the American College of Medical Genetics and Genomics. Even with this pathogenic mutation, the proband lived to over 110 years. The entire list of rare protein-altering variants and DNA sequence of all 17 supercentenarian genomes is available as a resource to assist the discovery of the genetic basis of extreme longevity in future studies.

Written by M. //