rs11630290 - HERC1

Magnitude 2.2 · 2 studies on file

Reported associations

• GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development. - American journal of human genetics (2011) · Larsson M, Duffy DL, Zhu G, Liu JZ, Macgregor S, McRae AF, Wright MJ, Sturm RA, Mackey DA, Montgomery GW, Martin NG, Medland SE · PubMed 21835309

  Human iris patterns are highly variable. The origins of this variation are of interest in the study of iris-related eye diseases and forensics, as well as from an embryological developmental perspective, with regard to their possible relationship to fundamental processes of neurodevelopment. We have performed genome-wide association scans on four iris characteristics (crypt frequency, furrow contractions, presence of peripupillary pigmented ring, and number of nevi) in three Australian samples of European descent. Both the discovery (n = 2121) and replication (n = 499 and 73) samples showed evidence for association between (1) crypt frequency and variants in the axonal guidance gene SEMA3A (p = 6.6 × 10(-11)), (2) furrow contractions and variants within the cytoskeleton gene TRAF3IP1 (p

• Metabolic GWAS of elite athletes reveals novel genetically-influenced metabolites associated with athletic performance - Unknown journal (n.d.) · Unknown authors · PubMed 31882771

  ABSTRACT: Genetic research of elite athletic performance has been hindered by the complex phenotype and the relatively small effect size of the identified genetic variants. The aims of this study were to identify genetic predisposition to elite athletic performance by investigating genetically-influenced metabolites that discriminate elite athletes from non-elite athletes and to identify those associated with endurance sports. By conducting a genome wide association study with high-resolution metabolomics profiling in 490 elite athletes, common variant metabolic quantitative trait loci (mQTLs) were identified and compared with previously identified mQTLs in non-elite athletes. Among the identified mQTLs, those associated with endurance metabolites were determined. Two novel genetic loci in

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