Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2012-03

AUTHORS

Jae-Jung Kim, Young-Mi Park, Kyu-Heum Baik, Hye-Yeon Choi, Gap-Seok Yang, InSong Koh, Jung-Ah Hwang, Jieun Lee, Yeon-Su Lee, Hwanseok Rhee, Tae Soo Kwon, Bok-Ghee Han, Karen E. Heath, Hiroshi Inoue, Han-Wook Yoo, Kiejung Park, Jong-Keuk Lee

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. More... »

PAGES

471-478

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00439-011-1096-4

DOI

http://dx.doi.org/10.1007/s00439-011-1096-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1047480568

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21959382


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Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s00439-011-1096-4'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00439-011-1096-4'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00439-011-1096-4'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00439-011-1096-4'


 

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