SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT00975871

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Correlation of Genetic Polymorphism and Livedo Vasculitis

Livedo vasculitis is disease with recurrent courses of painful foot or ankle ulcerations, followed by healed white scars. The actual mechanism of its pathophysiology is not yet clear. It has been reported to be associated with some gene mutations, for example, factor V Leiden gene. This study is aimed to find the possible relation of these gene mutations in Taiwanese patients.

NCT00975871 Livedo Vasculitis Livedoid Vasculitis Livedoid Vasculopathy Genetic Pleomorphism Leiden Mutation
MeSH: Vasculitis Vascular Diseases
HPO: Vasculitis



Time Perspective: Prospective

Case-Only


There are 2 SNPs

SNPs


1 C677T

It has been reported to be related to factor V Leiden mutation (heterozygous) (22.2%), prothrombin G20210A gene mutation (8.3%), PAI promotor 4G/4G genotype and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in about total 30% livedo vasculitis patients. --- G20210A --- --- C677T ---


2 G20210A

It has been reported to be related to factor V Leiden mutation (heterozygous) (22.2%), prothrombin G20210A gene mutation (8.3%), PAI promotor 4G/4G genotype and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in about total 30% livedo vasculitis patients. --- G20210A ---



HPO Nodes


HPO:
Vasculitis
Genes 58
IL10 MYD88 IFIH1 IL12A IL12B RASGRP1 TREX1 SCN11A PRTN3 ICOS OTULIN WAS WIPF1 MLX CD19 HLA-B MS4A1 TNFSF12 ERAP1 HLA-DPA1 DOCK8 LMX1B IL12A-AS1 HLA-DPB1 NFKB1 NFKB2 TLR4 VPS13A SCN9A SCN10A TNFRSF13C TNFRSF13B CASP10 PRKCD CCR1 UBAC2 CD81 PTPN22 C4A SAMHD1 CTLA4 TNFRSF1A CFI FAS FASLG CR2 ADA2 KLRC4 ARPC1B DNASE1L3 MEFV IL23R NLRP3 MVK PGM3 STAT4 PNP NOD2