Association study between age-related macular degeneration and R1210C mutation of CFH gene in Chinese population / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>A R1210C mutation of complement factor H (CFH) gene has been associated with age-related macular degeneration (AMD) in Caucasian population. This study was to verify above association in Han Chinese population.</p><p><b>METHODS</b>The mutation was detected by direct sequencing in 258 patients with wet AMD and 426 matched controls.</p><p><b>RESULTS</b>The R1210C mutation has not been identified in either sample.</p><p><b>CONCLUSION</b>The R1210C mutation in CFH gene is not associated with AMD in Han Chinese population.</p>