An exploratory assessment of the applicability of direct-to-consumer genetic testing to translational research in Japan.

ABSTRACT:

Objective

In order to assess the applicability of a direct-to-consumer (DTC) genetic testing to translational research for obtaining new knowledge on relationships between drug target genes and diseases, we examined possibility of these data by associating SNPs and disease related phenotype information collected from healthy individuals.

Results

A total of 12,598 saliva samples were collected from the customers of commercial service for SNPs analysis and web survey were conducted to collect phenotype information. The collected dataset revealed similarity to the Japanese data but distinguished differences to other populations of all dataset of the 1000 Genomes Project. After confirmation of a well-known relationship between ALDH2 and alcohol-sensitivity, Phenome-Wide Associat

SUBMITTER: Inoue M 

PROVIDER: S-EPMC8305957 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature