Christopher J Hammond|Toby Andrew|Y. T. Mak|Tim D. Spector
A Susceptibility Locus for Myopia in the Normal Population Is Linked to the PAX6 Gene Region on Chromosome 11: A Genomewide Scan of Dizygotic Twins
St Thomas' Hospital|Princess Royal University Hospital|St Thomas' Hospital|St Thomas' Hospital|St Thomas' Hospital
myopia common complex trait considerable economic social impact highly affected individuals ocular morbidity performed classic twin study 506 unselected twin pairs inferred heritability refractive error 089 95 confidence interval 086091 genomewide scan 221 dizygotic twin pairs analyzed use optimal hasemanelston regression methods implemented use generalized linear modeling showed significant linkage lod 32 refractive error four loci maximum lod score 61 40 cm chromome 11p13 evidence linkage locus well linkage peaks chromosomes 3q26 lod 37 8p23 lod 41 4q12 lod 33 remained became stronger model fit checked outliers downweighted examination potential candidate genes showed ipax6i gene directly highest peak 11p13 locus ipax6i fundamental identity growth eye reported mutations usually result catastrophic congenital phenotypes aniridia haplotype tagging 17 singlenucleotide polymorphisms snps covered ipax6i gene common minor allele frequencies identified 5 snps explained 0999 haplotype diversity linkage association analysis tagging snps showed strong evidence linkage markers minimum sup2supsub1sub 75 ipi006 association suggests ipax6i may play role myopia development possibly genetic variation upstream promoter regulator although definite association ipax6i common variants myopia demonstrated study