Variant "SLC39A2:c.343T>C(p.Phe115Leu)"
Search result: 1 record
Variant information
Gene:
SLC39A2 
Variant:
SLC39A2:c.343T>C(p.Phe115Leu) 
Genomic location:
chr14:21469151(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_014579.3:c.343T>C(p.Phe115Leu)
protein_coding NM_001256588.1:c.*80T>C
pseudogene NR_110139.1:n.-1829A>G
protein_coding NM_001029991.1:c.*4109T>C
protein_coding NM_022734.2:c.*4102T>C
dbSNP ID:
rs2234636  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Bladder Benign Neoplasm (DOID_0050623)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=2.96, 95% CI: 1.23, 7.15 and OR=2.91, 95% CI:1.00, 8.52 for heterozygote (tc) and homozygote (cc) variants 
    Effect:
    SLC39A2 and FSIP1 polymorphisms as potential modifiers of arsenic-related bladder cancer
    Reference:
    PMID21947419
    Title:
    SLC39A2 and FSIP1 polymorphisms as potential modifiers of arsenic-related bladder cancer.
    Species studied:
    Human
    Abstract:
    Arsenic is a carcinogen that contaminates drinking water worldwide. Accumulating evidence suggests that both exposure and genetic factors may influence susceptibility to arsenic-induced malignancies. We sought to identify novel susceptibility loci for arsenic-related bladder cancer in a US population with low to moderate drinking water levels of arsenic. We first screened a subset of bladder cancer cases using a panel of approximately 10,000 non-synonymous single nucleotide polymorphisms (SNPs). Top ranking hits on the SNP array then were considered for further analysis in our population-based case-control study (n = 832 cases and 1,191 controls). SNPs in the fibrous sheath interacting protein 1 (FSIP1) gene (rs10152640) and the solute carrier family 39, member 2 (SLC39A2) in the ZIP gene family of metal transporters (rs2234636) were detected as potential hits in the initial scan and validated in the full case-control study. The adjusted odds ratio (OR) for the FSIP1 polymorphism was 2.57 [95% confidence interval (CI) 1.13, 5.85] for heterozygote variants (AG) and 12.20 (95% CI 2.51, 59.30) for homozygote variants (GG) compared to homozygote wild types (AA) in the high arsenic group (greater than the 90th percentile), and unrelated in the low arsenic group (equal to or below the 90th percentile) (P for interaction = 0.002). For the SLC39A2 polymorphism, the adjusted ORs were 2.96 (95% CI 1.23, 7.15) and 2.91 (95% CI 1.00, 8.52) for heterozygote (TC) and homozygote (CC) variants compared to homozygote wild types (TT), respectively, and close to one in the low arsenic group (P for interaction = 0.03). Our findings suggest novel variants that may influence risk of arsenic-associated bladder cancer and those who may be at greatest risk from this widespread exposure.