American Society of Retina Specialists Meeting
American Society of Retina Specialists Meeting
July 29, 2019
1 min read

Direct-to-consumer genetic database used to identify AMD variants

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Theodore Leng

CHICAGO — Researchers used a direct-to-consumer genetic testing service to identify patients with CFH Y402H and ARMS2 A69S alleles, the genetic variants most commonly associated with an increased risk for developing age-related macular degeneration, a speaker said here.

“This is the first description of an unselected cohort of AMD patients with Y402H and A69S alleles identified through direct-to-consumer genetic testing,” Theodore Leng, MD, MS, said at the American Society of Retina Specialists annual meeting.

The national cross-sectional study included nearly 3.5 million participants who used 23andMe, a direct-to-consumer genetic testing service. Researchers genotyped participants, with their consent, between 2013 and 2019 on custom Illumina genotyping arrays, Leng said.

Approximately 35% of participants exhibited the Y402H allele and 23% of participants exhibited the A69S allele. The Y402H variant was common across all genetic ancestries, except East Asian participants. However, 41.6% of East Asian participants had the A69S allele variant, the highest frequency among ancestries, Leng said.

Genetic testing may identify patients with high-risk genotypes and improve disease identification and monitoring. This could also lead to earlier treatment of advanced AMD, which can optimize visual outcomes, he said. by Robert Linnehan



Leng T. Frequency of age-related macular degeneration risk alleles Y402H and A69S in a direct-to-consumer genetic database. Presented at: American Society of Retina Specialists annual meeting; July 27-30, 2019; Chicago.

Disclosure: Leng reports no relevant financial disclosures.