rs7008482

This is a intron variant variant in the NSMCE2 gene.

Research that mentions this SNP (3)

Genetic ancestry and prostate cancer susceptibility SNPs in Puerto Rican and African American men
AssociationN=831Margarita Irizarry‐Ramírez et al.(2017)· The Prostate

This case-control study examined the association between West African ancestry (WAA) and prostate cancer (PCa) risk and aggressiveness in 291 Puerto Rican (PR) and 200 African American (AA) cases versus 133 PR and 207 AA controls. The SNP rs7824364 at chromosome 8q24 was significantly associated with PCa in both populations (p<0.0001 for AA, p=0.0001 for PR), with 82% of AA cases and 41% of PR cases carrying 1-2 risk alleles. Among PR men, those with the rs7824364 risk allele showed elevated WAA (39% versus 29%, p=0.034). No direct association between WAA and PCa aggressiveness was found.

Traits studied:Prostate cancerProstate cancer aggressiveness
8q24 risk alleles and prostate cancer in African-Barbadian men
AssociationN=1,019Cropp CD et al.(2014)· The Prostate

A candidate region association study of 10 previously reported 8q24 SNPs in African-Barbadian men from the Prostate Cancer in a Black Population (PCBP) study found one significant association with prostate cancer. Rs2124036 homozygous C/C genotype showed significant association with prostate cancer risk (OR = 2.7, 95% CI 1.3-5.3, P = 0.005). Meta-analysis across three Caribbean populations (Barbados, Jamaica, Tobago) for rs16901979 and rs1447295 identified rs16901979 A allele as significantly associated (Z = 2.73, p = 0.006, OR = 1.31, 95% CI 1.09-1.58).

Traits studied:Prostate cancer
8q24 risk alleles in West African and Caribbean men
AssociationN=1,157Adam B. Murphy et al.(2012)· The Prostate

This study examined 10 chromosome 8q24 SNPs in 1,157 men (308 prostate cancer cases, 469 controls from West Africa, and additional Caribbean and population samples) to determine the prevalence and risk magnitude of 8q24 variants in populations of African descent. The study replicated associations between prostate cancer risk and rs6983561 (OR=0.6, P=0.03), rs16901979 (OR=1.6, P=0.03), and rs7008482 (OR=2.3) in West African men, with no significant heterogeneity of effects across African descent populations.

Traits studied:Prostate cancer

About NSMCE2

This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protein is part of the structural maintenance of chromosomes (SMC) 5/6 complex which plays a key role genome maintenance, facilitating chromosome segregation and suppressing mitotic recombination. A knockout of the orthologous mouse gene is lethal prior to embryonic day 10.5. Naturally occurring mutations in this gene, that abolish the SUMO ligase activity, are associated with primordial dwarfism and extreme insulin resistance. [provided by RefSeq, Mar 2017]

View all NSMCE2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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