Publications

These publications are examples of research made possible with data from CanPath and its regional cohorts.

2024

Investigating the genetic architecture of eye colour in a Canadian cohort

Authors: F.Lona-Durazo, R.Thakur, E. Pairo-Castineira, K. Funderburk, T. Zhang, M. A. Kovacs, J. Choi, I. J. Jackson, K. M. Brown, E. J. Parra

Researchers used data from 5,641 participants of European ancestry from the Canadian Partnership for Tomorrow’s Health (CanPath) and performed genome-wide association studies to investigate the genetic basis of eye color. The study identified multiple independent candidate causal variants in the HERC2/OCA2 region, along with single candidate variants near other genes such as IRF4, SLC24A4, TYR, and TYRP1. These findings suggest that eye color variation is influenced by specific molecular processes in iris melanocytes.

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