RESUMO
PURPOSE: To ascertain and define the position of a potential disease susceptibility gene around D21S0083i prioritized during our previous whole genome case-control association analysis with 27,158 microsatellite markers, in Japanese high-myopia patients. METHODS: 520 high myopic patients and 520 healthy controls were genotyped using 39 SNPs distributed around D21S0083i on chromosome 21q22.3. RESULTS: Only 1 SNP (rs2839471) of 39 SNPs was significant after correction for multiple testing (allele T: P=0.00027, Pc=0.01, OR=1.684). The SNP (rs2839471) did not reside in haplotype blocks constructed by the pair-wise linkage disequilibrium between the SNPs. CONCLUSIONS: The SNP (rs2839471) is suggested to be located in the frequent recombinant region within UMODL1. Together this region might play a critical role for susceptibility to high myopia, and warrants further confirming studies and investigations as to the mechanisms by which UMODL1 may contribute to myopia.
Assuntos
Cromossomos Humanos Par 21/genética , Predisposição Genética para Doença/genética , Mucoproteínas/genética , Miopia/genética , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Genótipo , Humanos , Lactente , Masculino , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Uromodulina , Adulto JovemRESUMO
GPI-anchored proteins are distributed ubiquitously in eukaryotes, but not in procaryotes. By metabolic-labeling of Sulfolobus acidocaldarius cells, 14C-radiolabeled precursors of GPI and caldarchaetidylinositol were incorporated into 120, 143 and 185 kDa proteins. The 185 kDa protein was specifically solubilized by bacterial phosphatidylinositol-specific phospholipase C. Therefore, Sulfolobus proved to contain at least one GPI-anchored proteins.