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Fritsche, Lars G.,Igl, Wilmar,Cooke Bailey, Jessica N.,Grassmann, Felix,Sengupta, Sebanti,Bragg-Gresham, Jennifer L.,Burdon, Kathryn P.,Hebbring, Scott J.,Wen, Cindy,Gorski, Mathias,Kim, Ivana K.,Cho, Nature Pub. Co 2016 Nature genetics Vol.48 No.2
<P>Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly with limited therapeutic options. Here, we report on a study of >12 million variants including 163,714 directly genotyped, most rare, protein-altering variant. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5×10<SUP>–8</SUP>) distributed across 34 loci. While wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first signal specific to wet AMD, near <I>MMP9</I> (difference-P = 4.1×10<SUP>–10</SUP>). Very rare coding variants (frequency < 0.1%) in <I>CFH</I>, <I>CFI</I>, and <I>TIMP3</I> suggest causal roles for these genes, as does a splice variant in <I>SLC16A8</I>. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.</P>