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Report for Clinical Trial NCT03492853

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

The Association of the Peripheral Retinal Changes and Genotypic Changes in Patients With Age Related Macular Degeneration

Purpose: To examine the genotypes associated with the peripheral retinal phenotypic features in patients with age-related macular degeneration documented with wide-field imaging. Design: Clinic-based case series study in Croatia. Participants: 160 patients >50 years of age known to have early or advanced AMD and 150 subjects >50 years of age without known AMD (controls) Methods: Both groups of patients were examined with ophthalmoscopy and OCT to confirm their classification. Posterior and peripheral fundus features were documented with Optos wide-field imaging (Optos P200MA, Optos Plc, Dunfermline, Scotland) and graded. DNA was extracted from blood samples and gene polymorphisms were evaluated for complement factor H (CFH) rs1061170 and rs1410996, age-related maculopathy susceptibility (ARMS2) rs10490924, high temperature requirement factor A1 (HtrA1) rs11200638, complement factor B (CFB) rs4151667 and rs641153, complement factor 2 (C2) rs9332739 and rs547154 and complement factor 3 (C3) rs2230199.

NCT03492853 Peripheral Retinal Degenerations, Age Related Macular Degeneration Polymorphisms
MeSH: Macular Degeneration Retinal Degeneration
HPO: Retinal atrophy Retinal degeneration

1 Interventions

Name: DNA extraction and sequencing

Description: DNA extraction from peripheral blood and KASP sequencing

Type: Genetic

control group patient patients with AMD


Primary Outcomes

Description: the association between those two parameters

Measure: the association of the peripheral retina changes and genotyping

Time: 2 years

Time Perspective: Prospective

Case-Control


There are 9 SNPs

SNPs


1 rs10490924

DNA was extracted from blood samples and gene polymorphisms were evaluated for complement factor H (CFH) rs1061170 and rs1410996, age-related maculopathy susceptibility (ARMS2) rs10490924, high temperature requirement factor A1 (HtrA1) rs11200638, complement factor B (CFB) rs4151667 and rs641153, complement factor 2 (C2) rs9332739 and rs547154 and complement factor 3 (C3) rs2230199.


2 rs1061170

DNA was extracted from blood samples and gene polymorphisms were evaluated for complement factor H (CFH) rs1061170 and rs1410996, age-related maculopathy susceptibility (ARMS2) rs10490924, high temperature requirement factor A1 (HtrA1) rs11200638, complement factor B (CFB) rs4151667 and rs641153, complement factor 2 (C2) rs9332739 and rs547154 and complement factor 3 (C3) rs2230199.


3 rs11200638

DNA was extracted from blood samples and gene polymorphisms were evaluated for complement factor H (CFH) rs1061170 and rs1410996, age-related maculopathy susceptibility (ARMS2) rs10490924, high temperature requirement factor A1 (HtrA1) rs11200638, complement factor B (CFB) rs4151667 and rs641153, complement factor 2 (C2) rs9332739 and rs547154 and complement factor 3 (C3) rs2230199.


4 rs1410996

DNA was extracted from blood samples and gene polymorphisms were evaluated for complement factor H (CFH) rs1061170 and rs1410996, age-related maculopathy susceptibility (ARMS2) rs10490924, high temperature requirement factor A1 (HtrA1) rs11200638, complement factor B (CFB) rs4151667 and rs641153, complement factor 2 (C2) rs9332739 and rs547154 and complement factor 3 (C3) rs2230199.


5 rs2230199

DNA was extracted from blood samples and gene polymorphisms were evaluated for complement factor H (CFH) rs1061170 and rs1410996, age-related maculopathy susceptibility (ARMS2) rs10490924, high temperature requirement factor A1 (HtrA1) rs11200638, complement factor B (CFB) rs4151667 and rs641153, complement factor 2 (C2) rs9332739 and rs547154 and complement factor 3 (C3) rs2230199.


6 rs4151667

DNA was extracted from blood samples and gene polymorphisms were evaluated for complement factor H (CFH) rs1061170 and rs1410996, age-related maculopathy susceptibility (ARMS2) rs10490924, high temperature requirement factor A1 (HtrA1) rs11200638, complement factor B (CFB) rs4151667 and rs641153, complement factor 2 (C2) rs9332739 and rs547154 and complement factor 3 (C3) rs2230199.


7 rs547154

DNA was extracted from blood samples and gene polymorphisms were evaluated for complement factor H (CFH) rs1061170 and rs1410996, age-related maculopathy susceptibility (ARMS2) rs10490924, high temperature requirement factor A1 (HtrA1) rs11200638, complement factor B (CFB) rs4151667 and rs641153, complement factor 2 (C2) rs9332739 and rs547154 and complement factor 3 (C3) rs2230199.


8 rs641153

DNA was extracted from blood samples and gene polymorphisms were evaluated for complement factor H (CFH) rs1061170 and rs1410996, age-related maculopathy susceptibility (ARMS2) rs10490924, high temperature requirement factor A1 (HtrA1) rs11200638, complement factor B (CFB) rs4151667 and rs641153, complement factor 2 (C2) rs9332739 and rs547154 and complement factor 3 (C3) rs2230199.


9 rs9332739

DNA was extracted from blood samples and gene polymorphisms were evaluated for complement factor H (CFH) rs1061170 and rs1410996, age-related maculopathy susceptibility (ARMS2) rs10490924, high temperature requirement factor A1 (HtrA1) rs11200638, complement factor B (CFB) rs4151667 and rs641153, complement factor 2 (C2) rs9332739 and rs547154 and complement factor 3 (C3) rs2230199.



HPO Nodes


HPO:
Retinal atrophy
Genes 82
SNRNP200 FKTN MAPKAPK3 PRPH2 IMPDH1 CNGB3 MIR204 WDR19 GUCA1A ABCA4 ELOVL4 ATF6 RHO LAMA1 VCAN ARSG SIX6 SLC7A14 C8ORF37 RAX2 PROM1 LARGE1 RPGR PRPH2 REEP6 RPGR DHX38 PRPH2 CNGB3 PRPH2 RS1 PDE6C POMT1 GBA ALDH3A2 GUCY2D ABCA4 C8ORF37 PDE6H SH3BP2 HK1 TRNT1 TOPORS TNFRSF11B PRPF31 HLA-A CFHR3 PLK4 DRAM2 HMCN1 CFHR1 KCNV2 FKRP CRX ARL2BP PROM1 STUB1 POMGNT1 RP9 NRL AIPL1 CFI RLBP1 MERTK RDH5 APOE CNGA3 GUCA1A IFT140 POMT2 RGR ELOVL4 ATF6 CEP78 CTSD RBP4 TUB MFRP GNAT2 HGSNAT BEST1 GUCY2D
Retinal degeneration
Genes 221
SNRNP200 USP45 CNGB3 DHDDS GTF2H5 MIR204 GUCA1A TMEM67 PEX7 ERCC2 SCN8A RHO RPGR VCAN ALDH3A2 KCNA2 POU3F4 SLC7A14 TARS1 PARS2 RAX2 LZTFL1 BEST1 RPGR REEP6 ABCA4 PRPH2 RS1 GNPTAB WWOX RLBP1 HK1 GABRA2 TRNT1 SUMF1 SLC19A2 BBS4 HLA-A PLK4 YWHAG ABCA4 HMCN1 CFHR1 CEP164 UBA5 NECAP1 CRX ATXN7 PANK2 IFT172 POMGNT1 SCN3A AIPL1 CFI RLBP1 PITPNM3 XYLT2 ZFYVE26 RNF113A ABCC6 COL18A1 GABRG2 TUBB4B CEP78 MAPKAPK3 PRPH2 CYFIP2 GRIN2D CLN6 WDR19 DNM1 GNB5 ATF6 C1QTNF5 LAMA1 ARSG PRPF4 OPA1 PROM1 LARGE1 PRPH2 WWOX CFH PNPLA6 PDE6C TULP1 ALDH3A2 CTNNB1 MICOS13 CLN3 TMEM67 PRPF31 CFHR3 SLC1A2 TRAF3IP1 STXBP1 ARL2BP IDUA HSD17B10 PPT1 CST3 BEST1 PRCD APOE GUCA1A MAB21L1 BBS2 CNGB3 MTTP CTSD CWC27 IMPDH1 SLC13A5 ABCA4 AARS1 LMNA MPLKIP AP3B2 SCAPER ANO10 DHX38 PRPH2 GBA C8ORF37 TPP1 ARV1 CP TNFRSF11B DRAM2 PAX2 APOB PROM1 EFEMP1 KCNV2 CACNA1B STUB1 RP9 WRN CYP4V2 SDCCAG8 NRL SPG11 CFAP410 RDH5 CNGA3 NR2E3 ERCC3 POMT2 ATXN7 TRAK1 CCDC28B FTL IDUA ELOVL4 RAX2 SYNGAP1 RBP4 MFRP HCN1 GNAT2 CACNA1A TTC8 SDCCAG8 MCOLN1 FKTN FBLN5 WWOX GABRB2 ELOVL4 KCNA2 SIX6 TTC21B C8ORF37 FBN2 SEMA4A GABRA5 PPP3CA RPGR CNGB1 PROM1 CNGB3 POMT1 GUCY2D ABCA4 BBS1 GTF2E2 PDE6H SH3BP2 TOPORS NUS1 POMK SZT2 FGF12 EEF1A2 FKRP ACTL6B PROM1 CNKSR2 PHYH NTRK2 CLN5 MERTK ZNF423 KCNB1 MAN2B1 IFT140 ATP6V1A RGR CLTC ATF6 ABCC6 CP XYLT1 TUB PRPF8 CDH3 RPGRIP1 SYNJ1 HGSNAT BEST1 GUCY2D