SNPMiner Trials by Shray Alag


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Report for SNP rs10490924

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 6 clinical trials

Clinical Trials


1 LOC387715/HTRA1 Variants in Polypoidal Choroidal Vasculopathy in a Korean Population

This study is to investigate whether variants in the LOC387715 locus and the HtrA serine peptidase 1 (HTRA1) gene within the 10q26 locus are associated with polypoidal choroidal vasculopathy and whether they are associated with clinical patterns including angiographic phenotype in a Korean population.

NCT01108250 Age-Related Macular Degeneration Genetic: LOC387715/HTRA1 genotyping
MeSH: Macular Degeneration

One hundred Korean patients with polypoidal choroidal vasculopathy and 100 control subjects were genotyped for the LOC387715 (rs10490924) and the HTRA1 gene polymorphism (rs11200638)

Primary Outcomes

Description: to investigate whether variants in the LOC387715 locus and the HtrA serine peptidase 1 (HTRA1) gene within the 10q26 locus are associated with polypoidal choroidal vasculopathy (PCV)

Measure: Genotyping of LOC387715/HTRA1 of PCV and control groups

Time: 4weeks

Secondary Outcomes

Description: The association of the risk allele of the LOC387715/HTRA1 and indocyanine angiographic characteristics of polypoidal choroidal vasculopathy including subretinal hemorrhage, pigment epithelial detachment, and serous retinal detachment.

Measure: Indocyanine angiographic findings of polypoidal choroidal vasculopathy

Time: 20 minutes

Description: To evaluate the association between visual acuity and genotype of polypoidal choroidal vasculopathy

Measure: Visual acuity using Snellen chart

Time: 2 x 5 minutes

2 LOC387715/HTRA1 Variants and the Response to Combined Photodynamic Therapy With Intravitreal Bevacizumab in Polypoidal Choroidal Vasculopathy

This study is to investigate whether there is an association of the LOC387715/HTRA1 variants with response to treatment with combined photodynamic therapy and intravitreal bevacizumab for patients with polypoidal choroidal vasculopathy.

NCT01233115 Age-Related Macular Degeneration
MeSH: Macular Degeneration

Patients were genotyped for the LOC387715 (rs10490924) and the HTRA1 gene polymorphism (rs11200638).

Primary Outcomes

Description: Best-corrected visual acuity (BCVA) using the Snellen chart was evaluated including BCVA up to 12 months

Measure: Best-corrected visual acuity

Time: up to 12 months

Secondary Outcomes

Description: Fluorescein angiography (FA) and ICGA (HRA; Heidelberg Engineering, Dossenheim, Germany) was evaluated. Greatest linear dimension (GLD) was determined based on both FA and ICGA.

Measure: Angiographic characteristics

Time: up to 12 months

3 Association of Vascular Endothelial Growth Factor and LOC387715/HTRA1 Polymorphisms With the Response to Intravitreal Ranibizumab Injections in Polypoidal Choroidal Vasculopathy

This study is to investigate whether there is an association of the LOC387715/HTRA1 and vascular endothelial growth factor polymorphism with response to treatment with intravitreal ranibizumab injections for patients with polypoidal choroidal vasculopathy.

NCT01233128 Age-Related Macular Degeneration
MeSH: Macular Degeneration

Patients were genotyped for the LOC387715 (rs10490924), HTRA1 gene (rs11200638), and VEGF (rs3025039 and rs833069)polymorphism using Real-Time polymerase chain reaction.

Primary Outcomes

Description: Best-corrected visual acuity (BCVA) using the Snellen chart was evaluated including BCVA before treatment and BCVA up to 12 months.

Measure: Best-corrected visual acuity

Time: up to 12 months

Secondary Outcomes

Description: Fluorescein angiography (FA) and ICGA (HRA; Heidelberg Engineering, Dossenheim, Germany)were evaluated. Greatest linear dimension (GLD) was determined based on both FA and ICGA.

Measure: Angiographic characteristics

Time: up to 12 months

4 Evaluation of Wet Age-Related Macular Degeneration (AMD) Genetic Profile Interactions With Ranibizumab Treatment Outcomes

Age Related Macular Degeneration (AMD) is the leading cause of blindness in North America. This condition causes a progressive loss of central vision, the part of your vision that allows you to read, drive and see images in sharp detail directly in front of you. The wet form of AMD is characterized by the growth and leakage of small blood vessels into the choroid layer of the eye, or the back of the eye. These leaking blood vessels disrupt the structure and function of the eye, causing loss of vision, particularly the sharp vision created by the macula area of the eye. Currently, the best treatment for wet AMD is a series of injections of an anti-vascular endothelial growth factor (anti-VEGF) drug, ranibizumab (Lucentis). The clinical response to treatment is varied. Approximately 70% of patients see a moderate vision gain (3-line gain on a visual acuity chart), but there are 30% who do not see a similar improvement in vision. There is no way to identify those patients who will respond with significant vision gain versus those who will not experience moderate vision gain. Recent research into AMD has demonstrated that genetic mutations are proving to be key risk factors for patients developing wet AMD, with up to 80% of wet AMD cases explained by inherited genetic variations. Scientists have theorized that there may be a genetic difference between those patients who see significant responses to treatment and those who do not. The investigators will be testing participant's genetic profile using the Macula Risk test and following their progress through the standard treatment for wet AMD over the course of this study. This study aims to demonstrate the association between known genetic variations and patient responses to treatment.

NCT01363570 Age Related Macular Degeneration Drug: Ranibizumab
MeSH: Macular Degeneration

Mean change in visual acuity according to individual mutations at the CFH haplotypes/C3 rs2230199 marker/ARMS2 rs10490924 marker and mt A4917G marker, calculated using the Macula Risk findings and visual acuity results as determined using ETDRS visual screening.

Primary Outcomes

Description: Percent probability gains in visual acuity will be assessed by comparing best corrected visual acuity at each follow up appointment by the standardized vision testing, early treatment diabetic retinopathy study (ETDRS) test. The ETDRS visual acuity test was first developed to effectively evaluate visual changes following panretinal photocoagulation in patients with diabetic retinopathy. This method of measuring visual acuity was more accurate than previous methods, and thus has become the global standard, especially for clinical trials where it is essential to have utmost accuracy.

Measure: Gains in visual acuity

Time: Baseline and months 1, 2, 3, 4, 5, and 6

Secondary Outcomes

Description: The changes in blood vessel lesion growth and activity will be measured by OCT (Ocular Coherence Tomography) and fundus fluoroscein angiography to assess choroidal neovascular leakage

Measure: Changes in choroid vessel activity in lesion growth and activity at choroid

Time: Baseline and months 1, 2, 3, 4, 5 and 6

Description: Measured at each appointment with a slit lamp examination

Measure: Rate of cataract progression

Time: Baseline and months 1, 2, 3, 4, 5, and 6

Description: The speed at which macular edema resolves will be visually measured using optical coherence tomography

Measure: Resolution of macular edema

Time: Baseline and months 1, 2, 3, 4, 5, 6

Description: Mean change in visual acuity according to individual mutations at the CFH haplotypes/C3 rs2230199 marker/ARMS2 rs10490924 marker and mt A4917G marker, calculated using the Macula Risk findings and visual acuity results as determined using ETDRS visual screening

Measure: Mean change in visual acuity according to identified genetic mutations

Time: Baseline and Months 1, 2, 3, 4, 5, 6

Measure: Mean change in visual acuity regardless of genetic profile results

Time: Baseline and Months 1, 2, 3, 4, 5, 6

Measure: Interaction of smoking status and genetic profile on visual acuity changes

Time: Baseline and Months 1, 2, 3, 4, 5, 6

5 A Multicenter Study on the Investigation of Previously Verified Leading Gene Polymorphisms Related to Age-related Macular Degeneration in Turkish Population

The purpose of this study is to determine whether common genetic polymorphisms that have been verified to be related to age-related macular degeneration (AMD) in some populations are also associated with AMD in Turkish population

NCT02248324 Age-related Macular Degeneration
MeSH: Macular Degeneration

In the introduced projects study, the relationship of eight different gen polymorphisms (CFH rs1061170 and rs1410996, LOC387715 / ARMS2 gene rs10490924, C2 gene rs9332739, CFB gene rs641153, CFI rs10033900 , HTRA-1 gene rs11200638, C3 rs2230199) will be studied in 2800 patients with high risk intermediate and late stage AMD and 2200 age-matched control subjects.

Primary Outcomes

Description: Gene polymorphisms of 8 region with identification of homozygous, heterozygote and wild type genotyping and alleles

Measure: rate of homozygous, heterozygous or wild type genotype and allels

Time: at the end of third years

Secondary Outcomes

Measure: Odds ratios for each genotyping in healthy elderly controls and patients with age related macular degeneration

Time: at the end of third years

Other Outcomes

Measure: Odds ratios for various combinations of gene regions between healthy elderly control and patients with age related macular degeneration

Time: at the end of third years

6 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 Genetic: DNA extraction and sequencing
MeSH: Macular Degeneration Retinal Degeneration
HPO: Retinal atrophy Retinal degeneration

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.

Primary Outcomes

Description: the association between those two parameters

Measure: the association of the peripheral retina changes and genotyping

Time: 2 years


HPO Nodes


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