GWAS identifies genome-wide significant association of childhood visual acuity at the NPLOC4 locus on chromosome 17¶

Claim · All claims
Evidence · 1 study · associational r3 · q3
Currency · newest study 2023 · not yet checked against its sources · not reviewed by a person

Subclaims¶

q3 i? Twelve SNPs at the NPLOC4 locus reach genome-wide significance, with the strongest SNP shifting acuity 0.11 SD per allele. → Schmitz 2023

Evidence¶

Schmitz 2023¶

Schmitz, J., Abbondanza, F., Marianski, K., Luciano, M. & Paracchini, S. (2023). Identification of loci involved in childhood visual acuity and associations with cognitive skills and educational attainment. npj Science of Learning, 8:25. https://doi.org/10.1038/s41539-023-00175-w

q3 · i? · associational · r3

GWAS using linear mixed models (BOLT-LMM) in n = 5571 ALSPAC children with genotypes and phenotypes. Twelve SNPs at the NPLOC4 locus on chromosome 17 reached genome-wide significance; the lead allele shifts acuity 0.11 SD (p = 2.1 × 10−8), a per-allele shift with no standardised effect size printed. Targeted replication also highlighted loci near PDE6G and upstream of PRSS56.

"The strongest association was found for rs11656126 ( p = 2.1 × 10−8) with each copy of the major allele (G) (MAF = 0.35) shifting an individual 0.11 SD towards better visual acuity."

Discussion¶

Related Claims¶

• Educational attainment polygenic scores are positively associated with childhood visual acuity, while myopia polygenic scores show a negative association — related
• Visual acuity is not correlated with hearing threshold in childhood, suggesting independence of the two sensory phenotypes — related