rs3888190

This variant is located in the ATP2A1 gene.

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GWAS Catalog Trait Associations (4)

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

body mass index

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele A
OR 0.03
p 1.0e-68
N 694,649
Large GWAS
European
Winkler TW et al. “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” Plos Genetics 11(10):e1005378 (2015)
Allele A
OR —
β 0.031
p 1.0e-29
N 309,889
Large GWAS
European
Locke AE et al. “Genetic studies of body mass index yield new insights for obesity biology.” Nature 518(7538):197-206 (2015)
Allele A
OR 0.03
p 4.0e-12
N 238,944
Large GWAS
multi-ancestry
Akiyama M et al. “Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.” Nature Genetics 49(10):1458-1467 (2017)
Allele A
OR 0.03
p 2.0e-31
N 158,284
Large GWAS
multi-ancestry
Justice AE et al. “Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.” Nature Communications 8:14977 (2017)
Allele A
OR 0.03
p 4.0e-15
N 153,041
Meta-analysisLarge GWAS
multi-ancestry
Wood AR et al. “Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively.” Diabetologia 59(6):1214-21 (2016)
Allele A
OR 0.02
p 8.0e-9
N 119,688
Large GWAS
European

bipolar disorder, body mass index

Pisanu C et al. “Evidence that genes involved in hedgehog signaling are associated with both bipolar disorder and high BMI.” Translational Psychiatry 9(1):315 (2019)
Allele A
OR 0.03
p 1.0e-24
N 373,864
Large GWAS
European

hip circumference

Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele A
OR 0.03
p 9.0e-22
N 143,480
Large GWAS
multi-ancestry

smoking behavior, body mass index

Justice AE et al. “Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.” Nature Communications 8:14977 (2017)
Allele A
OR 0.03
p 6.0e-10
N 196,760
Meta-analysisLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →
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Research that mentions this SNP (1)

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Influence of genetic variants associated with body mass index on eating behavior in childhood
AssociationN=3,179Claire Monnereau et al.(2017)· Obesity

In a population-based cohort of 3,179 children, the study tested two weighted genetic risk scores based on 15 childhood and 97 adult BMI-associated SNPs, plus ten individual appetite/satiety SNPs, for association with eating behavior measures. The 97 SNP adult BMI risk score was nominally associated with lower satiety responsiveness (β: -0.007 SD, 95% CI -0.013, 0.000), while individual SNPs rs11030104 (BDNF) and rs10733682 (LMX1B) showed nominal associations with reduced satiety responsiveness (β: -0.057 to -0.087 SD). Overall, findings do not strongly support that BMI-associated SNPs influence eating behavior at this young age.

Traits studied:Body mass index (BMI)Enjoyment of foodFood fussinessFood responsivenessSatiety responsivenessSlowness in eating
PubMedDOIMetascience Observatory

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]

View all ATP2A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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