rs2070424

This is a coding sequence variant variant in the SOD1 gene.

▶

ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
▶

Research that mentions this SNP (2)

▶
Genetic variation of FTO: rs1421085 T>C, rs8057044 G>A, rs9939609 T>A, and copy number (CNV) in Mexican Mayan school‐aged children with obesity/overweight and with normal weight
ReviewLizbeth González‐Herrera et al.(2019)· American Journal of Human Biology

A literature review of 70 studies examining single nucleotide polymorphisms (SNPs) associated with obesity in Mexican populations published 2011-2021. The authors identified SNPs with differential behavior in Mexican compared to Caucasian populations, including rs17782313 (MC4R), rs6548238 (TMEM18), rs6265 (BDNF), rs7498665 (SH2B1), and notably rs6232 (PCSK1) associated with early-onset obesity in Mexican youth. The review emphasizes ethnicity-dependent genetic effects on BMI heritability (40-70%) and highlights genes involved in cholesterol metabolism and adipokine signaling pathways.

Traits studied:AdiposityBlood pressureBody mass index (BMI)Cardiovascular risk factorsDyslipidemiaInsulin resistanceMetabolic syndromeObesityOverweightType 2 diabetes
PubMedDOIMetascience Observatory
▶
Association of copper‐zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes with nonsyndromic myelomeningocele
AssociationN=610Benjamin A. Kase et al.(2012)· Birth Defects Research Part A: Clinical and Molecular Teratology

A candidate gene association study of 610 families (329 trios and 281 duos) from the US and Canada investigating 17 SNPs in SOD1 and SOD2 genes for association with nonsyndromic myelomeningocele (MM). Four SOD1 SNPs (rs202446, rs202447, rs4816405, rs2070424) and one SOD2 SNP (rs5746105) showed significant association with MM (p<0.05), with rare alleles appearing protective. Gene expression analysis in CEPH cell lines suggested associations with altered SOD1 and SOD2 mRNA levels.

Traits studied:MyelomeningoceleNeural tube defects
PubMedDOIMetascience Observatory

About SOD1

The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2020]

View all SOD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…