Pigmentation and Retinal Pigment Epithelium Thickness: A Study of the Phenotypic and Genotypic Relationships Between Ocular and Extraocular Pigmented Tissues.

Pigment Cell Melanoma Res · 2025 · PMC12254877 · PMID 40650424

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highly significantno p-value reported

3.2.2 Global Genetic Correlation LD score regression demonstrated that there are highly significant relationships between hair colour, skin colour and tanning ability, but not between RPE thickness and other pigmentation‐related traits (Figure 5 ).

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nominally significantno p-value reported

Three of these variants are also genome‐wide significant ( p < 5E‐08) in every other retinal field in both the left and right eyes (rs1126809 [ TYR ], rs1800407 [ OCA2 ] and rs12913832 [ OCA2‐HERC2 ]), whilst a broader set of 8 further variants were at least nominally significant in every other subfield GWAS (rs377695367 [ GDPD4 ], rs62075723 [ NPLOC4‐TSPAN10 ], rs1410996 [ CFHR3 ], rs443134 [ CFH‐CFHR3 ], rs3770526 [ MREG ], rs2625955 [ RHO ], rs4840499 [ PRSS51 ] and rs57819090 [ C8orf74 ]).

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