rs3742207

This is a variant in the COL4A1 gene that changes a glutamine to an histidine.

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GWAS Catalog Trait Associations (1)

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

arterial stiffness measurement

Tarasov KV et al. “COL4A1 is associated with arterial stiffness by genome-wide association scan.” Circulation. Cardiovascular Genetics 2(2):151-8 (2009)
Allele C
OR 21.00
p 5.0e-8
N 4,221
Large GWAS
European
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ClinVar annotation

Benign★★★☆
12 submitters4 publications

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies (BSVD1); Porencephalic cyst; not specified

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About COL4A1

This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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