RT Journal Article SR Electronic T1 Genotype–phenotype correlation and interaction of 4q25, 15q14 and MIPEP variants with myopia in southern Chinese population JF British Journal of Ophthalmology JO Br J Ophthalmol FD BMJ Publishing Group Ltd. SP 869 OP 877 DO 10.1136/bjophthalmol-2019-314782 VO 105 IS 6 A1 Junbin Liu A1 Riping Zhang A1 Lixia Sun A1 Yuqian Zheng A1 Shaowan Chen A1 Shao-Lang Chen A1 Yanxuan Xu A1 Chi-Pui Pang A1 Mingzhi Zhang A1 Tsz Kin Ng YR 2021 UL http://bjo.bmj.com/content/105/6/869.abstract AB Background/aims To determine the association and interaction of genome-wide association study-reported variants for Asian populations with myopia and ocular biometric parameters in southern Chinese population.Methods Totally, 1462 unrelated Han Chinese subjects were recruited with complete ophthalmic examinations, including 1196 myopia and 266 control subjects. A total of nine variants were selected for TaqMan genotyping. The genetic association, joint additive effect and genotype–phenotype correlation were investigated.Results The 4q25 variant rs10034228 (p=0.002, OR=0.56) and MIPEP variant rs9318086 (p=0.004, OR=1.62) were found to be significantly associated with myopia as well as different severity of myopia. Moreover, 15q14 variant rs524952 (p=0.015, OR=1.49) also showed mild association with myopia and high myopia. However, there was no significant association of CTNND2, vasoactive intestinal peptide receptor 2 and syntrophin beta 1 variants with myopia. Joint additive analysis revealed that the subjects carrying 6 risk alleles of the 3 associated variants were 10-fold higher risk predisposed to high myopia. Genotype–phenotype correlation analysis revealed that high myopia subjects carrying 4q25 rs10034228 T allele showed thicker central corneal thickness, whereas high myopia subjects carrying 15q14 rs524952 A allele were associated with longer axial length and larger curvature ratio.Conclusion This study revealed significant association of 4q25, 15q14 and MIPEP variants with myopia and different severity of myopia in southern Chinese population, joint additively enhancing 10-fold of risk predisposing to high myopia. The correlation of these associated variants with axial length and corneal parameters suggests their contribution to the refractive status in high myopia subjects.Data are available upon request.