Kai Xiong Cheong1,2, Rita Yu Yin Yong3, Mellisa Mei Hui Tan2, Frederick Lian Kheng Tey3, Bryan Chin Hou Ang2,4. 1. Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore. 2. Vision Performance Centre, Military Medicine Institute, Singapore Armed Forces, Singapore, Singapore. 3. DSO National Laboratories, Defence Medical and Environmental Research Institute, Singapore, Singapore. 4. National Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore, Singapore.
Abstract
Background: To investigate the associations of Single Nucleotide Polymorphisms (SNPs) in the VIPR2 and ZMAT4 genes with high myopia in a Han Chinese population.Materials and Methods: In this case-control genetic association study comprising 193 high myopia participants and 135 normal emmetropic controls from a Han Chinese population, 15 SNPs from the VIPR2 and ZMAT4 genes were selected for genotyping based on previous studies. Allelic frequencies of the SNPs and haplotypes were compared for association with high myopia and axial length (AL). Results: RS885863 (G-reference/A-effect) and RS7829127 (A-reference/G-effect) were significantly associated with high myopia (OR = 1.832, P = .045; OR = 0.539, P = .023 respectively). The associations of RS885863 with high myopia were observed under the dominant (GA+AA: OR = 1.972, P < .05) and co-dominant models (Heterozygous GA: OR = 1.874; Homozygous AA: OR = 5.310; P < .05) against GG (reference). The mean AL of GG was 25.94 mm, compared with that in GA and AA of 26.64 mm and 27.48 mm respectively. The associations of RS7829127 with high myopia were observed under the dominant (AG+GG: OR = 0.512, P < .05) and co-dominant models (Heterozygous AG: OR = 0.524; Homozygous GG: OR = 0.307; P < .05) against AA (reference). The mean AL of AA was 26.35 mm, compared with that in AG and GG of 25.62 mm and 25.17 mm respectively. The importance of RS885863 and RS7829127 were also highlighted by their being the constituent SNPs in the haplotypes (ACGA, P = .002; and GA, P = .008 respectively) that were significantly associated with high myopia.Conclusions: Our findings agree that RS885863 from VIPR2 and RS7829127 from ZMAT4 are significantly associated with high myopia in a Han Chinese population.
Background: To investigate the associations of Single Nucleotide Polymorphisms (SNPs) in the VIPR2 and ZMAT4 genes with high myopia in a Han Chinese population.Materials and Methods: In this case-control genetic association study comprising 193 high myopiaparticipants and 135 normal emmetropic controls from a Han Chinese population, 15 SNPs from the VIPR2 and ZMAT4 genes were selected for genotyping based on previous studies. Allelic frequencies of the SNPs and haplotypes were compared for association with high myopia and axial length (AL). Results: RS885863 (G-reference/A-effect) and RS7829127 (A-reference/G-effect) were significantly associated with high myopia (OR = 1.832, P = .045; OR = 0.539, P = .023 respectively). The associations of RS885863 with high myopia were observed under the dominant (GA+AA: OR = 1.972, P < .05) and co-dominant models (Heterozygous GA: OR = 1.874; Homozygous AA: OR = 5.310; P < .05) against GG (reference). The mean AL of GG was 25.94 mm, compared with that in GA and AA of 26.64 mm and 27.48 mm respectively. The associations of RS7829127 with high myopia were observed under the dominant (AG+GG: OR = 0.512, P < .05) and co-dominant models (Heterozygous AG: OR = 0.524; Homozygous GG: OR = 0.307; P < .05) against AA (reference). The mean AL of AA was 26.35 mm, compared with that in AG and GG of 25.62 mm and 25.17 mm respectively. The importance of RS885863 and RS7829127 were also highlighted by their being the constituent SNPs in the haplotypes (ACGA, P = .002; and GA, P = .008 respectively) that were significantly associated with high myopia.Conclusions: Our findings agree that RS885863 from VIPR2 and RS7829127 from ZMAT4 are significantly associated with high myopia in a Han Chinese population.
Entities:
Keywords:
Han Chinese; High myopia; VIPR2; ZMAT4; haplotype; single nucleotide polymorphism
Authors: Douglas M Shaw; Hannah P Polikowsky; Dillon G Pruett; Hung-Hsin Chen; Lauren E Petty; Kathryn Z Viljoen; Janet M Beilby; Robin M Jones; Shelly Jo Kraft; Jennifer E Below Journal: Am J Hum Genet Date: 2021-12-02 Impact factor: 11.043