rs8061590

This is a upstream gene variant variant in the ATP2A1 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

body mass index

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)

Allele A

OR 0.03

p 3.0e-66

N 374,756

Meta-analysisLarge GWAS

European

testosterone measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)

Allele A

OR 0.03

p 3.0e-21

N 178,782

Large GWAS

European

Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)

Allele A

OR 0.04

p 3.0e-8

N 148,248

Major Consortium StudyLarge GWAS

European

hypogonadism

Pagadala MS et al. “Discovery of novel ancestry specific genes for androgens and hypogonadism in Million Veteran Program Men.” Nature Communications 16(1):4104 (2025)

Allele G

OR 0.06

p 2.0e-14

N 145,389

Major Consortium StudyLarge GWAS

multi-ancestry

About ATP2A1

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]

rs8061590

GWAS Catalog Trait Associations (3)

body mass index

testosterone measurement

hypogonadism

About ATP2A1

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