Signatures of adaptation in myopia-related genes on the sunlight exposure hypothesis

Table 2 Allele frequencies of highlighted SNPs detected by selective sweeps

Gene	RHO	RHO	TSPAN10
rsid	rs7984	rs2855558	rs9747347
A1/A2	G/A	G/A	T/C
A1 effect size	− 0.01552	− 0.01385	− 0.03339
GWAS P-val	6.47 × 10⁻⁵	3.14 × 10⁻⁴	2.22 × 10⁻⁵⁰
FIN nSL	− 2.58406	− 2.41519	2.0204
Phenotypic consequence of the selected allele	Hyperopic	Hyperopic	Myopic
A1 frequencies in PBS populations
FIN-TSI-YRI	0.07, 0.23, 0.97	0.07, 0.23, 0.97	0.42, 0.34, 0.07
FIN-BEB-YRI	0.07, 0.47, 0.97	0.07, 0.46, 0.97	0.42, 0.20, 0.07
FIN-CHB-YRI	0.07, 0.58, 0.97	0.07, 0.58, 0.97	0.42, 0.005, 0.07

A1 represents the effect allele, and A2 represents the alternative allele. The A1 effect size (diopters) and P-value were derived from the summary statistics of a myopia genome-wide association study (GWAS) [21]. FIN nSL denotes selection intensity, and a positive value indicates the extension of haplotypes favoring A1. Population branch statistics (PBS) were calculated using FIN Finnish in Finland, TSI Toscani in Italy, YRI Yoruba in Ibadan, Nigeria, BEB Bengali in Bangladesh; and CHB Han Chinese in Beijing, China

ISSN: 1880-6805