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Report for Clinical Trial NCT00260897

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Molecular Genetic Study of Avascular Necrosis of the Femoral Head-Revealing ANFH Pathogenesis Mechanism by Cell and Animal Models

Avascular necrosis of the femoral head (ANFH) is a debilitating disease that commonly leads to destruction of the hip joint in patients at middle age of life and often requires surgical intervention. Previously, we have identified the collagen type II, alpha 1 (COL2A1) gene as the ANFH disease gene. In this grant proposal, we will establish cell ine and animal models to understand the pathophysiology of ANFH, and extend our ongoing study for identifying genes responsible for non-familiar ANFH by looking into other interacting molecules of the pathway.

NCT00260897 Osteonecrosis
MeSH: Osteonecrosis Femur Head Necrosis Necrosis
HPO: Avascular necrosis Morbus Kienboeck



Purpose: Screening

Time Perspective: Cross-Sectional, Prospective

Defined Population


There is one SNP

SNPs


1 G1170S

In the Pedigree I, a 3665G >A mutation in exon 50 of the COL2A1 gene (Genbank accession number NM_001844) and the substitution resulted in a Gly1170Ser codon change (Genbank accession number NP_001835). --- Gly1170Ser ---



HPO Nodes


HPO:
Avascular necrosis
Genes 78
COL1A1 HPGD TLR4 ARSB COL2A1 SLCO2A1 STAT4 CCR1 ORC1 PTPN11 DVL3 COL1A2 TRPS1 COL2A1 TERC EP300 SCARB2 SH3PXD2B UFSP2 TRPS1 FGFR1 GBA ERAP1 TERT CTC1 GBA CDH23 HBB NOP10 ACAN WNT5A NPM1 DVL1 ELP1 WRAP53 KLRC4 COL2A1 IL10 NHP2 TRPS1 UBAC2 FZD2 HLA-B TINF2 SIL1 TRPV4 COMP C4A EXT1 DKC1 IL12A-AS1 IL12A CLCN7 IL23R ADAMTS2 KRAS EXT2 RTEL1 PARN MEFV TRPS1 GBA ACTB ACTG1 COL2A1 SLC2A10 CREBBP USB1 EXT1 USP8 CA2 FAS SMAD3 TERT PHF6 ATP7A INPP5K SMAD3
Morbus Kienboeck