Variant "BCAS1:rs3787547"
Search result: 1 record
Variant information
Gene:
BCAS1 
Variant:
BCAS1:rs3787547 
Genomic location:
chr20:52684438(hg19) 
HGVS:
SO Term RefSeq
pseudogene NR_039913.1:n.*509C>T
protein_coding NM_003657.3:c.-6+2534C>T
protein_coding NM_001316361.2:c.-6+2534C>T
dbSNP ID:
rs3787547  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Osteosarcoma (DOID_3347)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=1.27; 95% CI: 1.11-1.45; P=4.0×10(-4) 
    Effect:
    SNP rs1295925 and rs3787547 play an important role in the etiology of OS, suggesting them as the potential genetic modifier for OS development.
    Reference:
    PMID29595404
    Title:
    Association between genetic variants in p53 binding sites and risks of osteosarcoma in a Chinese population: a two-stage case-control study.
    Species studied:
    Human
    Abstract:
    Osteosarcoma (OS) is one of the most common bone malignancies in children and adolescents. To date, inaugural mechanism of OS was considered as a complex process and was still not clear. The p53 gene, most important tumor suppressors, was associated with risk of many tumors, including OS. In current study, we evaluated the relationship between genetic variation of the p53 binding site and the OS susceptibility through a two-stage case-control study in Chinese population. We found that rs1295925 (OR = 0.85; 95 CI = 0.76-0.94; P = 0.003) and rs3787547 (OR = 1.27; 95 CI = 1.11-1.45; P = 4.0× 10-4) was significantly with OS susceptibility. Compared with those with rs1295925-TT genotype, and the risk of OS was significantly lower in individuals with CT genotype (OR = 0.77; 95 CI = 0.65-0.92) and CC genotype (OR = 0.75; 95 CI = 0.60-0.93). Compared with those with rs3787547-GG genotype, and the risk of OS was significantly higher in individuals with AG genotype (OR = 1.32; 95 CI = 1.10-1.58) and AA genotype (OR = 1.46; 95 CI = 1.11-1.92). To sum up, our results prove that SNP rs1295925 and rs3787547 play an important role in the etiology of OS, suggesting them as the potential genetic modifier for OS development.