Table 1.
Used Methods and Results Reference | protein (Fig. 1B) | ||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
mRNA (Fig. 1A, 3, 5) |
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secretion (Fig. 1C, 4) |
secretion (Fig. 1C, 2, S2) |
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Gene Accession | RPE donors | ||||||||||||||||
Gene | Number | SNP ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 |
CFH | NG_007259 | rs121913059 | C | C | C | C | C | C | C | C | C | C | C | C | C | C | C |
CFH(Y402H) | NG_007259 | rs1061170 | CT | T | CT | T | C | T | CT | T | T | T | CT | T | CT | CT | CT |
CFH | NG_007259 | rs570618 | GT | G | GT | G | T | G | GT | G | G | G | GT | G | GT | GT | GT |
CFH | NG_007259 | rs10922109 | AC | A | AC | AC | C | AC | AC | AC | AC | A | AC | C | AC | AC | AC |
CFHR3/CFHR1 | NG_015993 | rs61818925 | G | GT | G | G | GT | G | GT | G | G | G | G | G | G | G | G |
C3 | NG_009557 | rs2230199 | C | C | C | C | C | C | C | C | C | C | C | C | CG | C | C |
C3 | NG_009557 | rs147859257 | T | T | T | T | T | T | T | T | T | T | T | T | T | T | T |
C2/CFB | NG_011730 | rs116503776 | G | GA | G | G | G | G | GA | G | G | G | G | GA | A | G | G |
C2/CFB | NG_011730 | rs144629244 | C | C | C | C | C | C | C | C | C | C | C | C | C | C | C |
CFI | NG_007569 | rs141853578 | C | C | C | C | C | C | C | C | C | C | C | C | C | C | C |
CFI | NG_007569 | rs10033900 | TC | T | TC | TC | T | TC | TC | TC | T | TC | TC | TC | C | TC | C |
ARMS2 | NG_011725 | rs3750846 | A | AG | AG | A | AG | A | A | AG | AG | A | AG | AG | AG | A | A |
C9 | NG_009894 | rs6235861 | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G |
none AMD-risk | heterozygous | AMD-risk |