SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03492853

Developed by Shray Alag, 2019.
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

patients with AMD control group


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 63
WDR19 RLBP1 ELOVL4 POMT2 PRPF31 PROM1 IFT140 ATF6 BEST1 ARL2BP TRNT1 ABCA4 HK1 PDE6C PDE6H STUB1 HLA-A CEP78 GUCA1A NRL REEP6 FKTN FKRP KCNV2 SH3BP2 VCAN GUCY2D DHX38 CNGB3 MAPKAPK3 LAMA1 RBP4 HGSNAT AIPL1 GBA RDH5 POMGNT1 PRPH2 MIR204 DRAM2 RP9 RPGR POMT1 C8ORF37 GNAT2 MERTK ALDH3A2 MFRP TOPORS CTSD RAX2 RS1 RGR TUB SNRNP200 SLC7A14 CNGA3 PLK4 TNFRSF11B RHO CRX SIX6 LARGE1
Retinal degeneration
Genes 167
GABRB2 POMT2 CYP4V2 CACNA1A UBA5 RPGRIP1 PRPF31 TMEM67 ATP6V1A IFT140 BEST1 AARS ARL2BP NR2E3 ERCC2 FBLN5 ERCC3 ABCA4 HK1 PDE6C WWOX MAN2B1 PDE6H STUB1 HLA-A ARV1 TRAF3IP1 MICOS13 NRL SZT2 FKRP IFT172 KCNV2 HCN1 ZNF423 NTRK2 SH3BP2 SDCCAG8 GNPTAB DHX38 LZTFL1 RNF113A LAMA1 RBP4 WRN SLC19A2 HGSNAT GBA BBS1 BBS2 PEX7 RDH5 POMGNT1 BBS4 PRPH2 DHDDS CP POU3F4 SPG11 APOB CNKSR2 DRAM2 POMT1 ANO10 GRIN2D MFRP IDUA PRPF8 RAX2 RS1 MCOLN1 SLC1A2 RGR TUB YWHAG SLC7A14 ABCC6 OPA1 CEP164 TNFRSF11B CYFIP2 TULP1 NECAP1 RHO TRAK1 EEF1A2 CRX SIX6 SYNGAP1 WDR19 RLBP1 ELOVL4 TTC8 PROM1 COL18A1 ATF6 TUBB4B PHYH GTF2E2 TRNT1 PANK2 FBN2 KCNA2 EFEMP1 PPP3CA PNPLA6 STXBP1 LMNA KCNB1 CEP78 GUCA1A PPT1 SYNJ1 PRPF4 REEP6 FKTN ATXN7 TPP1 CLN3 CLN5 VCAN SUMF1 NUS1 GUCY2D SCN3A AP3B2 GNB5 CNGB3 MAPKAPK3 CLTC SCN8A SCAPER TTC21B AIPL1 PITPNM3 MTTP MPLKIP PRCD GTF2H5 CLN6 SLC13A5 MIR204 ZFYVE26 FTL FGF12 HSD17B10 PAX2 RP9 C1QTNF5 RPGR SEMA4A CTNNB1 C8ORF37 GNAT2 MERTK DNM1 ALDH3A2 TOPORS POMK CTSD CDH3 CNGB1 SNRNP200 CNGA3 PLK4 CFAP410 LARGE1