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Article

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

Human genetics - 1 Mar 2012

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

Abstract excerpt

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,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genome, Human

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Share to Polymorphism, Single Nucleotide

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 21959382
DOI: 10.1007/s00439-011-1096-4

Genes

TSSC4
ZBTB38
ACAN
NINL
PTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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