Genetic and Family Study of Myopia

• Main Authors: Chung-Ling Liang, 梁中玲
• Other Authors: Hsin-Shi Wang
• Format: Others
• Published: 2008
• Online Access: http://ndltd.ncl.edu.tw/handle/6dffk4

博士 === 長庚大學 === 臨床醫學研究所 === 96 === ABSTRACT 85% Vision quality is determined by lower order aberrations. It includes myopia, hyperopia and astigmatism. About 15% Vision quality is determined by higher order aberrations. The prevalence of myopia in Taiwan adult is almost 90%. And high myopia is around one fourth. Myopia has serious complications and is the most commonly seen eye problem in the ophthalmologic clinics. According to twin and family study, gene is related to myopia. The main theme of my dissertation is to investigate the role of genetic factors and family history in myopia. Our team first asked a fundamental problem – has myopia familial tendency and does parental myopic status influence offspring refraction, onset of myopia and ocular components? Our study found that family history was a strong risk factor for myopia. When there was one highly myopic parent, the odds ratio of developing high myopia was 6 and when both parents the odds ratio was almost 8. In addition, high myopia parents tended to have children whose onset of myopia was earlier than children with normal parents. Parental myopic state was also associated with ocular axial length, but not with anterior chamber depth or corneal curvature. To combine others and our result show that gene is an important role for myopia. When we found that genetic component is likely to play an important role for myopia, we proceeded to identify susceptibility genes. We hypothesized six candidate genes: MMP2, MMP3, TIMP1, COL1A1, HGF and PAX6. These genes are either involved in the eye development or eye ball structure. These genes have been implied in myopia pathogenesis in either animal studies or linkage analysis. We conducted several large case-control to test for the associations between tagging single nucleotide polymorphisms (tSNP) of each candidate genes and high myopia (defined ≦ -6D). Several statistical methods were used including single SNP analysis, haplotype analysis, subset analyses (based on presence of family history or education level). However, none of the six candidate gene is associated with high myopia. Therefore, whole genome-wide study for myopia will be our major direction in the future. There was one member of the proposal committee to ask us to include higher order aberrations for our study. But the result can’t be compatible with myopic gene study. Therefore we put this part related article to appendix.