rs3820282

This variant is located in the WNT4 gene.

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GWAS Catalog Trait Associations (5)

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

Uterine leiomyoma

Pujol Gualdo N et al. “Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.” Nature Medicine 31(5):1626-1634 (2025)

Allele C

OR 0.87

p 9.0e-44

N 295,291

Large GWAS

European

Sliz E et al. “Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata.” Nature Communications 14(1):542 (2023)

Allele C

OR 1.16

p 4.0e-41

N 367,903

Large GWAS

European

pelvic organ prolapse

Pujol-Gualdo N et al. “Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse.” Nature Communications 13(1):3584 (2022)

Allele T

OR 0.86

p 4.0e-31

N 574,377

Large GWAS

European

Matsunami M et al. “Genome-wide association studies for pelvic organ prolapse in the Japanese population.” Communications Biology 7(1):1188 (2024)

Allele T

OR 1.16

p 5.0e-31

N 651,773

Large GWAS

multi-ancestry

Olafsdottir T et al. “Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank.” Communications Biology 3(1):129 (2020)

Allele T

OR 1.18

p 3.0e-21

N 355,744

Major Consortium StudyLarge GWAS

European

uterine prolapse

Pujol Gualdo N et al. “Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.” Nature Medicine 31(5):1626-1634 (2025)

Allele C

OR 1.16

p 8.0e-20

N 234,621

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele C

OR 0.18

p 4.0e-19

N 317,583

Large GWAS

multi-ancestry

premature birth

Solé-Navais P et al. “Genetic effects on the timing of parturition and links to fetal birth weight.” Nature Genetics 55(4):559-567 (2023)

Allele T

OR 0.10

p 6.0e-11

N 279,043

Large GWAS

European

uterine fibroid

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele T

OR 0.15

p 4.0e-52

N 338,926

Large GWAS

multi-ancestry

Kim J et al. “Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups.” Nature Communications 16(1):2273 (2025)

Allele T

OR 0.16

p 2.0e-50

N 253,542

Meta-analysisLarge GWAS

East Asian, Central Asian, South Asian

Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)

Allele T

OR 1.18

p 2.0e-15

N 100,964

Large GWAS

East Asian

About WNT4

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq, Jul 2008]

rs3820282

GWAS Catalog Trait Associations (5)

Uterine leiomyoma

pelvic organ prolapse

uterine prolapse

premature birth

uterine fibroid

About WNT4

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