title: Evaluating the association between pathological myopia and SNPs in RASGRF1. ACTC1 and GJD2 genes at chromosome 15q14 and 15q25 in a Chinese population.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Key Laboratory of Myopia, Ministry of Health , Shanghai , China .
authors.forename: Chong-da
authors.initials: CD
authors.lastname: Chen
authors.forename: Zhi-Qiang
authors.initials: ZQ
authors.lastname: Yu
authors.forename: Xue-Li
authors.initials: XL
authors.lastname: Chen
authors.forename: Jia-Qi
authors.initials: JQ
authors.lastname: Zhou
authors.forename: Xing-Tao
authors.initials: XT
authors.lastname: Zhou
authors.forename: Xing-Huai
authors.initials: XH
authors.lastname: Sun
authors.forename: Ren-Yuan
authors.initials: RY
authors.lastname: Chu
mesh_terms: D000199:Actins / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D008297:Male; D008875:Middle Aged; D047728:Myopia, Degenerative / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D055815:Young Adult; D020666:ras-GRF1 / Q000235:genetics*; D000097004:Gap Junction delta-2 Protein
chemical_list: D000199:Actins; D017630:Connexins; D020666:ras-GRF1; D000097004:Gap Junction delta-2 Protein; C526913:ACTC1 protein, human; C513039:RASGRF1 protein, human
keywords: Chinese; genotype; macular degeneration; myopia; pathological; single nucleotide polymorphism