Table 1.
Classification of AMD related genes.
| Type | Genes (region, SNP) |
|---|---|
| Complement factors | C9 (5p13.1, rs62358361), C3 (19p13.3, rs2230199), C2 (6p21.33, rs116503776), CFHR4 (1q31.3, rs2171106), CFH(1q31.3, rs10922109), MBL2 (10q21.1, rs6480975), CFI(4q25, rs10033900),CFB(6p21.33, rs116503776),CFHR2 (1q31.3, rs2171106) |
| Lipid metabolism | CETP (16q13, rs5817082), APOE (19q13.32, rs429358), LIPC(15q21.3, rs2043085), ABCA1(9q31.1, rs2740488), LHFP (13q14.11, rs8002574), ABHD2 (15q26.1, rs4932480), TIMP3(22q12.3, rs9621532) |
| Angiogenesis | FILIP1L (3q12.1, rs13081855), VEGFA (6p21.1, rs943080) |
| Immune | PVRL2 (19q13.32, rs6857), CD34 (1q32.2, rs1967689), PILRB (7q22.1, rs7803454), SDK1 (7p22.2, rs55869773), ACKR3(2q37.3, rs56072732) |
| Cell motion | POSTN (13q13.3, rs9646096), TNXB (6p21.32, rs12153855), CNN2(19p13.3, rs67538026) |
| Cytoskeleton | CCSER2(10q23.1, rs113544501), POC5(5q13.3, rs79069165), HTRA1 (10q26.13, rs3750846), ARMS2(10q26.13, rs3750846) |
| Apoptosis and proliferation | TNFRSF10A (8p21.3, rs13278062), CTRB2 (16q23.1, rs72802342), NOTCH4 (6p21.32, rs2071277), FRK (6q22.1, rs1999930), PHACTR3 (20q13.32, rs843818), PKNOX2 (11q24.2, rs1077952), KRAS (12p12.1, rs73296436), IER3(6p21.33, rs3130783), TRIM29 (11q23.3, rs61900473), TGFBR1(9q22.33, rs334353) |
| Cell junction | GJA1 (6q22.31, rs9482193), CDH22 (20q13.12, rs6032755) |
| Mitochondrial | NDUFC2(11q14.1, rs113553030), XRCC6BP1(12q14.1, rs12368533), UQCRFS1 (19q12, rs741449),TOMM40 (19q13.32, rs6857), SOD2 (6q25.3, rs2842992), ACAD10 (12q24.12, rs61941274), MT–ND5 x ABHD2 (15q26.1, rs267606894 x rs4932480) |
| Ionic channel | KCNMA1 (10q22.3, rs76150532), KCNJ3 (2q24.1, rs1445653), TRPM1 (15q13.3, rs7182946), EFCAB14 (1p33, rs59182762), KCTD15 (19q13.11, rs10404384), TRPM3 (9q21.12, rs71507014) |
| Ubiquitination | NPLOC4(17q25.3, rs6565597) |
| Transcription | PCF11(11q14.1, rs4293143),TRIM24 (chr7:138166004,hg19), NELFE (6p21.33, rs116503776), RREB1 (6p24.3, rs11755724), GLI3 (7p14.1, rs2049622), KLF6 (10p15.1, rs12411753), ATF7IP2(16p13.13, rs28368872), BAZ1A (14q13.2, rs6571690), EFCAB14 (1p33, rs59182762), KHDRBS3(8q24.23, rs200534628), LYAR(4p16.3, rs150938341), NUPR1L (7p11.2, rs148800247), TLE4 (9q21.31, rs11545434) |
| Transport | SLC16A8 (22q13.1, rs8135665), SLC29A3 (10q22.1, rs7091537), SLC44A4 (6p21.33, rs12661281), TRAPPC9(8q24.3, rs117659209), ADAMTS9 (3p14.1, rs6795735) |
| Nerve | SYN3(22q12.3, rs5754227), CELSR1 (22q13.31, rs2337055), CNTN6 (3p26.3, rs77360121), DPF3(14q24.2, rs12887388), MBP(18q23, rs1789110), TNR (1q25.1, rs58978565), HERC1 (15q22.31, 15q22.31) |
| Cluster protein family | PLXNC1(12q22, rs17296444) |
| Helicases | SKIV2L (6p21.33, rs406936) |
| Adenylate cyclase | ADCY5(3q21.1, rs6762009) |
| GTPase or ATPase | ARHGAP21 (10p12.1, rs12357257), ATP6V0D1 (16q22.1, rs1471142), FGD(12q22, rs10507047) |
| Tyrosinase | TYR (11q14.3, rs621313) |
| BBSsome | BBS9(7p14.3, rs202162020) |
| Transmembrane protein | TMEM97 (17q11.2, rs11080055), TSPAN11 (12p11.21, rs55916253) |
| DNA binding protein | RAD51B (14q24.1, rs61985136), TSN(2q14.3, rs72837798) |
| Transferase | KMT2E (7q22.3, rs1142), B3GALTL (13q12.3, rs9564692), UGT2B7 (4q13.2, rs112243525), HS3ST4 (16p12.1, rs79590629) |
| Collagen | COL8A1 (3q12.1, rs140647181), COL10A1 (6q22.1, rs1999930), COL4A3 (2q36.3, rs11884770) |
| Noncoding RNA | ADAMTS9-AS2 (3p14.1, rs62247658), LINC00470(18p11.32, rs2186849), LINC00588(8q12.1, rs72657107), LINC00900(11q23.3, rs431911), PCDH9-AS3 (13q21.32, rs1359191), LOC101060498(4p14, rs12498917), LOC101927280 (5q23.1, rs61287758), LOC101927797(21q21.1, rs2205502), LOC101929681 (5p13.3, rs139161960), LOC153910(6q24.2, rs63337561), LOC729987(1p21.3, rs12727789) |
| Others | INHBB(2q14.2,rs6721654), ZPLD1 (3q12.3, rs17822656), HORMAD2 (22q12.2, rs713875), CST5 (20p11.21, rs4815244), CTRB2 (16q23.1, rs72802342), EXOC5(14q22.3, rs75165563), IGFBP6(12q13.13, rs11170417), PDHA2 (4q22.3, rs62315917), PRLR (5p13.2, rs114092250), RDH5 (12q13.2, rs3138141), STOX2 (4q35.1, rs11132213), TRIB2(2p24.3, rs10191751), C20orf85 (20q13.32, rs201459901), C4orf14 (4q12, rs1713985), C6orf223 (6p21.1, rs2295334), C80rf42 (8p23.3, rs722782), C9orf91 (9q32, rs41278671) |