J Med Genet 49:747-752 doi:10.1136/jmedgenet-2012-101209
  • Genome-wide studies

Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population

Open Access
  1. Jeong-Sun Seo1,3,4,5,7
  1. 1Medical Research Center, Genomic Medicine Institute (GMI), Seoul National University, Seoul, Korea
  2. 2Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA
  3. 3Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea
  4. 4Macrogen Inc., Seoul, Korea
  5. 5Psoma Therapeutics Inc., Seoul, Korea
  6. 6Division of Convergence Technology, Functional Genomics Branch, National Cancer Center, Goyang, Korea
  7. 7Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, Korea
  8. 8Department of Mathematics Education, Seoul National University, Seoul, Korea
  9. 9Seoul National University School of Public Health, Seoul, Korea
  1. Correspondence to Dr Jeong-Sun Seo and Dr Jong-Il Kim, Genomic Medicine Institute, Medical Research Center, Seoul National University College of Medicine 101 Daehak-ro, Jongno-gu, Seoul 110-799, Korea; jeongsun{at}, jongil{at}
  • Received 4 August 2012
  • Revised 25 September 2012
  • Accepted 10 October 2012
  • Published Online First 1 November 2012


Background Musical abilities such as recognising music and singing performance serve as means for communication and are instruments in sexual selection. Specific regions of the brain have been found to be activated by musical stimuli, but these have rarely been extended to the discovery of genes and molecules associated with musical ability.

Methods A total of 1008 individuals from 73 families were enrolled and a pitch-production accuracy test was applied to determine musical ability. To identify genetic loci and variants that contribute to musical ability, we conducted family-based linkage and association analyses, and incorporated the results with data from exome sequencing and array comparative genomic hybridisation analyses.

Results We found significant evidence of linkage at 4q23 with the nearest marker D4S2986 (LOD=3.1), whose supporting interval overlaps a previous study in Finnish families, and identified an intergenic single nucleotide polymorphism (SNP) (rs1251078, p=8.4×10−17) near UGT8, a gene highly expressed in the central nervous system and known to act in brain organisation. In addition, a non-synonymous SNP in UGT8 was revealed to be highly associated with musical ability (rs4148254, p=8.0×10−17), and a 6.2 kb copy number loss near UGT8 showed a plausible association with musical ability (p=2.9×10−6).

Conclusions This study provides new insight into the genetics of musical ability, exemplifying a methodology to assign functional significance to synonymous and non-coding alleles by integrating multiple experimental methods.

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