rs2235529

This is a intron variant variant 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.

age at first birth measurement, uterine fibroid

Xiao C et al. “Genetic contribution of reproductive traits to risk of uterine leiomyomata: a large-scale, genome-wide, cross-trait analysis.” American Journal of Obstetrics and Gynecology 230(4):438.e1-438.e15 (2024)

Allele T

OR —

p 3.0e-30

N 721,737

Large GWAS

European

BMI-adjusted waist-hip ratio

Lotta LA et al. “Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.” Jama 320(24):2553-2563 (2018)

Allele C

OR 0.02

p 2.0e-17

N 660,648

Large GWAS

European

endometriosis

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 0.14

p 2.0e-9

N 314,532

Large GWAS

multi-ancestry

Albertsen HM et al. “Genome-wide association study link novel loci to endometriosis.” Plos One 8(3):e58257 (2013)

Allele T

OR 1.30

p 3.0e-9

N 14,174

Large GWAS

European

bone tissue density

Kemp JP et al. “Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.” Plos Genetics 10(6):e1004423 (2014)

Allele C

OR 0.12

p 1.0e-8

N 9,416

Large GWAS

multi-ancestry

waist-hip ratio

Allele C

OR —

p 5.0e-8

N 663,598

Large GWAS

European

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]

rs2235529

GWAS Catalog Trait Associations (5)

age at first birth measurement, uterine fibroid

BMI-adjusted waist-hip ratio

endometriosis

bone tissue density

waist-hip ratio

About WNT4

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