BACKGROUND: This study investigated the association of the 27 SNPs located in RASGRF1. GJD2, and ACTC1 genes with pathological myopia in a Chinese Han population. METHODS: Myopia patients were stratified according to whether they did (n = 274) or did not (n = 131) have myopic macular degeneration (MMD). The SNPbrowser software was used to identify specific SNPs for analysis and minimal allele frequency of >20%, and a pairwise r(2) < 0.85 were genotyped using MALDI-TOF mass spectrometry. RESULTS: Before controlling for false discovery rate, the frequency of the rs1867315 C/C genotype compared with healthy controls was lower in the myopia group (p = 0.006) and in myopia patients without macular degeneration (p = 0.019). The frequency of the rs670957A/A genotype was also lower in patients without MMD compared with controls (p = 0.045). For rs2070664, the frequency of the A allele was higher in the patients with MMD compared to those without MMD (p = 0.032). After controlling for a false discovery rate of 5%, there was no significant difference in genotype and allele frequencies between these groups. CONCLUSION: In this study, there was no association of the analyzed SNPs located in RASGRF1. GJD2, and ACTC1 with pathological myopia, suggesting that SNPs included in our study have no or a limited role in causing pathologic myopia in this Chinese Han population.
BACKGROUND: This study investigated the association of the 27 SNPs located in RASGRF1. GJD2, and ACTC1 genes with pathological myopia in a Chinese Han population. METHODS:Myopiapatients were stratified according to whether they did (n = 274) or did not (n = 131) have myopic macular degeneration (MMD). The SNPbrowser software was used to identify specific SNPs for analysis and minimal allele frequency of >20%, and a pairwise r(2) < 0.85 were genotyped using MALDI-TOF mass spectrometry. RESULTS: Before controlling for false discovery rate, the frequency of the rs1867315 C/C genotype compared with healthy controls was lower in the myopia group (p = 0.006) and in myopiapatients without macular degeneration (p = 0.019). The frequency of the rs670957A/A genotype was also lower in patients without MMD compared with controls (p = 0.045). For rs2070664, the frequency of the A allele was higher in the patients with MMD compared to those without MMD (p = 0.032). After controlling for a false discovery rate of 5%, there was no significant difference in genotype and allele frequencies between these groups. CONCLUSION: In this study, there was no association of the analyzed SNPs located in RASGRF1. GJD2, and ACTC1 with pathological myopia, suggesting that SNPs included in our study have no or a limited role in causing pathologic myopia in this Chinese Han population.
Entities:
Keywords:
Chinese; genotype; macular degeneration; myopia; pathological; single nucleotide polymorphism
Authors: Yee-Ling Wong; Pirro Hysi; Gemmy Cheung; Milly Tedja; Quan V Hoang; Stuart W J Tompson; Kristina N Whisenhunt; Virginie Verhoeven; Wanting Zhao; Moritz Hess; Chee-Wai Wong; Annette Kifley; Yoshikatsu Hosoda; Annechien E G Haarman; Susanne Hopf; Panagiotis Laspas; Sonoko Sensaki; Xueling Sim; Masahiro Miyake; Akitaka Tsujikawa; Ecosse Lamoureux; Kyoko Ohno-Matsui; Stefan Nickels; Paul Mitchell; Tien-Yin Wong; Jie Jin Wang; Christopher J Hammond; Veluchamy A Barathi; Ching-Yu Cheng; Kenji Yamashiro; Terri L Young; Caroline C W Klaver; Seang-Mei Saw Journal: PLoS One Date: 2019-08-15 Impact factor: 3.240