SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation E504K

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 The Relationship Between ALDH2 and Aortic Dissection

The purpose of this study is to evaluate the impact of ALDH2 Glu504Lys polymorphism on aortic dissection.

NCT02630212
Conditions
  1. Aortic Dissection
MeSH:Aneurysm, Dissecting
HPO:Arterial dissection

The Relationship Between ALDH2 and Aortic Dissection The purpose of this study is to evaluate the impact of ALDH2 Glu504Lys polymorphism on aortic dissection. --- Glu504Lys ---

Primary Outcomes

Description: DNA was extracted from venous blood;genomic DNA underwent PCR amplification; finally, PCR products were purified and directly sequenced by Invitrogen Corp or Biosune Corp.Then ALDH2 genotype was distinguished depend on a G-to-A missense mutation on exon 12 of ALDH2 gene.

Measure: Number of patients with different ALDH2 genotype

Time: 1-30 days after samples collected

Secondary Outcomes

Description: Concentration of 4-HNE、MMP-2、MMP-9 detected by elisa kit、IHC or western blot in relevant specimen.

Measure: Concentration of inflammatory factors in blood and aortic specimen

Time: 1-30 days after samples collected

Description: Activity of ALDH2 was detected in blood and aortic specimen depend on its reducibility of NAD+

Measure: ALDH2 activity

Time: 1-30 days after samples collected

2 A Validation Study of The Relationship Between ALDH2 and Aortic Dissection

The purpose of this study is to validate the impact of ALDH2 Glu504Lys polymorphism on aortic dissection.

NCT03780738
Conditions
  1. Aortic Dissection
MeSH:Aneurysm, Dissecting
HPO:Arterial dissection

A Validation Study of The Relationship Between ALDH2 and Aortic Dissection The purpose of this study is to validate the impact of ALDH2 Glu504Lys polymorphism on aortic dissection. --- Glu504Lys ---

Primary Outcomes

Description: DNA was extracted from venous blood;genomic DNA underwent PCR amplification; finally, PCR products were purified and directly sequenced by Invitrogen Corp or Biosune Corp.Then ALDH2 genotype was distinguished depend on a G-to-A missense mutation on exon 12 of ALDH2 gene.

Measure: Number of patients with different ALDH2 genotype

Time: 1-30 days after samples collected


HPO Nodes