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rs1050565

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 normal
(A;G) 0 normal
(G;G) 2 if testicular cancer patient, 5x poorer response to bleomycin chemotherapy
ReferenceGRCh38 38.1/141
Chromosome17
Position30249058
GeneBLMH
is asnp
is mentioned by
dbSNPrs1050565
ebirs1050565
HLIrs1050565
Exacrs1050565
Varsomers1050565
Maprs1050565
PheGenIrs1050565
hapmaprs1050565
1000 genomesrs1050565
hgdprs1050565
ensemblrs1050565
gopubmedrs1050565
geneviewrs1050565
scholarrs1050565
googlers1050565
pharmgkbrs1050565
gwascentralrs1050565
openSNPrs1050565
23andMers1050565
23andMe allrs1050565
SNP Nexus

SNPshotrs1050565
SNPdbers1050565
MSV3drs1050565
GWAS Ctlgrs1050565
GMAF0.2736
Max Magnitude2
? (A;A) (A;G) (G;G) 28

Testicular cancer patients may be treated with bleomycin, a cytotoxic drug that is essential component of chemotherapy regimens for this cancer, officially known as disseminated testicular germ-cell cancer (TC). rs1050565 is a SNP in the BLMH gene. This gene encodes a protein that can inactivate bleomycin.

Based on a study of 300 TC patients treated with bleomycin, a testicular cancer patient with a rs1050565(G;G) genotype has an odds ratio of 4.97 (CI: 2.17 - 11.39) for TC-related death compared to (A;G) or (A;A) genotypes. The rs1050565(G;G) genotype also shows a higher prevalence of early relapses.[PMID 18398146]


OMIM602403
Desc
Variant0001
Relatedalso


ClinVar
Risk rs1050565(G;G)
Alt rs1050565(G;G)
Reference rs1050565(A;A)
Significance Non-pathogenic
Disease BLEOMYCIN HYDROLASE POLYMORPHISM
Variation info
Gene BLMH
CLNDBN BLEOMYCIN HYDROLASE POLYMORPHISM
Reversed 1
HGVS NC_000017.10:g.28576076T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007670.2,



[PMID 15995945OA-icon.png] Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors.


[PMID 19673036OA-icon.png] Association of tagging single nucleotide polymorphisms on 8 candidate genes in dopaminergic pathway with schizophrenia in Croatian population.


GET Evidence
BLMH-I443V
aa_change Ile443Val
aa_change_short I443V
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.284904
summary The exact function of BLMH, a cysteine protease of the papain superfamily, is unknown, but has been associated with increased risk of Alzheimer’s Disease (AD) in non-APOE4 individuals through a homozygous A->G nucleotide exchange. This variant increases the release of the proteolytic fragment, β-amyloid, in amyloid precursor proteins, which is a key event in the pathogenesis of AD. Case control studies studying the 1443V variant reported median prevalence for the A/A + A/G genotypes was 0.86. Increased AD risk with common G/G genotype was seen through higher frequency of the G/G phenotype among AD patients compared with control subjects. Increased risk for AD in individuals homozygous for the G allele confined it to non-APOE4 individuals. Although studies have found contradictory results, the potential important of this variant places it as a novel target for HD therapeutics.