rs1205312 - ASIP
Magnitude 2.8 · 1 study on file
Reported associations
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Multi-ancestry meta-analysis of keloids uncovers novel susceptibility loci in diverse populations - Unknown journal (n.d.) · Unknown authors · PubMed 40835838
ABSTRACT: Keloids are raised scars that grow beyond original wound boundaries, resulting in pain and disfigurement. Reasons for keloid development are not well-understood, and current treatment options are limited. Keloids are more likely to occur in darker-skinned individuals of African and Asian descent than in Europeans. We performed a genome-wide association study (GWAS) examining keloid risk across and within continental ancestry groups, incorporating 7837 cases and 1,593,009 controls. We detected 26 loci in the multi-ancestry analysis, 12 of which replicated in an independent dataset. Heritability estimates were 6%, 21%, and 34% for the European, East Asian, and African ancestry analyses, respectively. Genetically predicted gene expression and colocalization analyses identified 27 ge
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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keloid risk and prevention High
rs1205312-A increases keloid formation risk 1.28-fold by disrupting ASIP signaling in skin fibroblasts, leading to pathologic wound healing
discuss keloid risk and prevention options before any elective skin procedures
Lifestyle
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monitor post-injury wound healing High
elevated genetic susceptibility to keloids requires vigilant monitoring of wound response after any skin injury
observe wounds monthly for 12+ months; report abnormal scarring to dermatologist
Screening
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risk-benefit of cosmetic procedures High
genetic predisposition to keloids creates elevated risk of pathological scarring from tattoos, piercings, and cosmetic surgery
carefully weigh cosmetic benefits against keloid risk before proceeding with elective procedures