Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height
- Title
- Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height
- Author
- 고인송
- Keywords
- Exome Sequencing; Causal Variant; Adult Height; Noonan Syndrome; Idiopathic Short Stature
- Issue Date
- 2012-05
- Publisher
- Springer Science + Business Media
- Citation
- Human Genetics, Vol.131, No.3 [2012], p471–478
- Abstract
- Height is a highly heritable trait that involves multiple genetic loci. To identify causal variants that influence stature, we sequenced whole exomes of four children with idiopathic short stature. Ninety-five nonsynonymous single-nucleotide polymorphisms (nsSNPs) were selected as potential candidate variants. We performed association analysis in 740 cohort individuals and identified 11 nsSNPs in 10 loci (DIS3L2, ZBTB38, FAM154A, PTCH1, TSSC4, KIF18A, GPR133, ACAN, FAM59A, and NINL) associated with adult height (P < 0.05), including five novel loci. Of these, two nsSNPs (TSSC4 and KIF18A loci) were significant at P < 0.05 in the replication study (n = 1,000) and five (ZBTB38, FAM154A, TSSC4, KIF18A, and FAM59A loci) were significant at P < 0.01 in the combined analysis (n = 1,740). Together, the five nsSNPs accounted for approximately 2.5% of the height variation. This study demonstrated the utility of next-generation sequencing in identifying genetic variants and loci associated with complex traits.
- URI
- http://link.springer.com/article/10.1007/s00439-011-1096-4http://hdl.handle.net/20.500.11754/66979
- ISSN
- 0340-6717
- DOI
- 10.1007/s00439-011-1096-4
- Appears in Collections:
- COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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