| General information | Literature | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 10194 |
Name | TSHZ1 |
Synonymous | CAA|NY-CO-33|SDCCAG33|TSH1;teashirt zinc finger homeobox 1;TSHZ1;teashirt zinc finger homeobox 1 |
Definition | antigen NY-CO-33|serologically defined colon cancer antigen 33|teashirt homolog 1 |
Position | 18q22.3 |
Gene type | protein-coding |
Source | Count: TSHZ1; 18q22.3 |
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Sentence |
Abstract |
| "We detected a significant association at the CBLN2 locus mapping to 18q22.3, with the risk allele conferring an odds ratio for PAH of 1.97 (1.59-2.45; P = 7.47 × 10-10)." | pulmonary arterial hypertension (PAH) is a rare, severe disease resulting from progressive obliteration of small-caliber pulmonary arteries by proliferating vascular cells. PAH can occur without recognized etiology (idiopathic PAH), be associated with a systemic disease or occur as a heritable form, with BMPR2 mutated in approximately 80% of familial and 15% of idiopathic PAH cases. We conducted a genome-wide association study (GWAS) based on 2 independent case-control studies for idiopathic and familial PAH (without BMPR2 mutations), including a total of 625 cases and 1,525 healthy individuals. We detected a significant association at the CBLN2 locus mapping to 18q22.3, with the risk allele conferring an odds ratio for PAH of 1.97 (1.59-2.45; P = 7.47 x 10-10). CBLN2 is expressed in the lung, and its expression is higher in explanted lungs from individuals with PAH and in endothelial cells cultured from explanted PAH lungs. |