Expressive

rs12215602 - LINC01622 - FOXQ1

Magnitude 2.2 · 2 studies on file

Reported associations

  • Multi-Trait Genetic Analysis Identifies Autoimmune Loci Associated with Cutaneous Melanoma. - The Journal of investigative dermatology (2022) · Liyanage UE, MacGregor S, Bishop DT, Shi J, An J, Ong JS, Han X, Scolyer RA, Martin NG, Medland SE, Byrne EM, Green AC, Saw RPM, Thompson JF, Stretch J, Spillane A, Jiang Y, Tian C, Gordon SG, Duffy DL, Olsen CM, Whiteman DC, Long GV, Iles MM, Landi MT, Law MH · PubMed 34813871

    Genome-wide association studies (GWAS) have identified a number of risk loci for cutaneous melanoma. Cutaneous melanoma shares overlapping genetic risk (genetic correlation) with a number of other traits, including its risk factors such as sunburn propensity. This genetic correlation can be exploited to identify additional cutaneous melanoma risk loci by multitrait analysis of GWAS (MTAG). We used bivariate linkage disequilibrium-score regression score regression to identify traits that are genetically correlated with clinically confirmed cutaneous melanoma and then used publicly available GWAS for these traits in a multitrait analysis of GWAS. Multitrait analysis of GWAS allows GWAS to be combined while accounting for sample overlap and incomplete genetic correlation. We identified a tota

  • Genome-wide association meta-analyses combining multiple risk phenotypes provides insights into the genetic architecture of cutaneous melanoma susceptibility - Unknown journal (n.d.) · Unknown authors · PubMed 32341527

    ABSTRACT: Most genetic susceptibility to cutaneous melanoma remains to be discovered. Meta-analysis genome-wide association study (GWAS) of 36,760 melanoma cases (67% newly-genotyped) and 375,188 controls identified 54 significant loci with 68 independent SNPs. Analysis of risk estimates across geographical regions and host factors suggests the acral melanoma subtype is uniquely unrelated to pigmentation. Combining this meta-analysis with nevus count and hair color GWAS, and transcriptome association approaches, uncovered 31 potential secondary loci, for a total of 85 cutaneous melanoma susceptibility loci. These findings provide substantial insights into cutaneous melanoma genetic architecture, reinforcing the importance of nevogenesis, pigmentation, and telomere maintenance together with

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