rs11130248 - HYAL1 - HYAL2

Magnitude 2.8 · 1 study on file

Reported associations

  • A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population. - Nature genetics (2010) · Nakashima M, Chung S, Takahashi A, Kamatani N, Kawaguchi T, Tsunoda T, Hosono N, Kubo M, Nakamura Y, Zembutsu H · PubMed 20711176

    Keloid is a dermal fibroproliferative growth that results from dysfunction of the wound healing processes. Through a multistage genome-wide association study using 824 individuals with keloid (cases) and 3,205 unaffected controls in the Japanese population, we identified significant associations of keloid with four SNP loci in three chromosomal regions: 1q41, 3q22.3-23 and 15q21.3. The most significant association with keloid was observed at rs873549 (combined P = 5.89 x 10(-23), odds ratio (OR) = 1.77) on chromosome 1. Associations on chromosome 3 were observed at two separate linkage disequilibrium (LD) blocks: rs1511412 in the LD block including FOXL2 with P = 2.31 x 10(-13) (OR = 1.87) and rs940187 in another LD block with P = 1.80 x 10(-13) (OR = 1.98). Association of rs8032158 locate


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • Keloid risk assessment before elective skin procedures Moderate

    Genetic variation in HYAL1 increases keloid formation likelihood following skin trauma; tattoos and piercings carry procedural trauma risk

    Before getting tattoos or piercings, discuss personal and family history of keloids with provider

Screening

  • Keloid formation after skin injuries or procedures Moderate

    HYAL1 rs11130248 is associated with increased keloid susceptibility; HYAL1 regulates hyaluronic acid degradation in scar tissue formation

    Track any scars that become raised or expand months after injury; report concerning scars to dermatologist