Abstract
Height is a complex genetic trait that involves multiple genetic loci. Recently, 44 loci associated with height were identified in Caucasian individuals by large-scale genome-wide association (GWA) studies. To identify genetic variants influencing height in the Korean population, we analyzed GWA data from 8842 Korean individuals and identified 15 genomic regions with one or more sequence variants associated with height (P<1 × 10-5). Of these, eight loci were newly identified in Koreans (SUPT3H, EXT1, FREM1, PALM2-AKAP2, NUP37-PMCH, IGF1, KRT20 and ANKRD60). The 15 significant loci account for approximately 1.0% of height variation, with a 3.7-cm difference between individuals with ≤8 height-increasing alleles (5.1%) and ≥19 height-increasing alleles (4.2%). We also examined the associations between height loci and idiopathic short stature (ISS). Five loci (SPAG17, KBTBD8, HHIP, HIST1H1D and ACAN) were significantly associated with ISS (uncorrected P<0.05), indicating that height-associated genes in the adult population are involved in extreme cases of short stature in children. This study validates previous reports of loci associated with human height and identified novel candidate regions involved in human growth and development.
| Original language | English |
|---|---|
| Pages (from-to) | 27-31 |
| Number of pages | 5 |
| Journal | Journal of Human Genetics |
| Volume | 55 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 2010 Jan 1 |
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Keywords
- Genome-wide association study
- Height
- Idiopathic short stature
- Korean
- Single-nucleotide polymorphism
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Identification of 15 loci influencing height in a Korean population. / Kim, Jae Jung; Lee, Hae In; Park, Taesung; Kim, Kyunga; Lee, Jong Eun; Cho, Nam Han; Shin, Chol; Cho, Yoon Shin; Lee, Jong Young; Han, Bok Ghee; Yoo, Han Wook; Lee, Jong Keuk.
In: Journal of Human Genetics, Vol. 55, No. 1, 01.01.2010, p. 27-31.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Identification of 15 loci influencing height in a Korean population
AU - Kim, Jae Jung
AU - Lee, Hae In
AU - Park, Taesung
AU - Kim, Kyunga
AU - Lee, Jong Eun
AU - Cho, Nam Han
AU - Shin, Chol
AU - Cho, Yoon Shin
AU - Lee, Jong Young
AU - Han, Bok Ghee
AU - Yoo, Han Wook
AU - Lee, Jong Keuk
PY - 2010/1/1
Y1 - 2010/1/1
N2 - Height is a complex genetic trait that involves multiple genetic loci. Recently, 44 loci associated with height were identified in Caucasian individuals by large-scale genome-wide association (GWA) studies. To identify genetic variants influencing height in the Korean population, we analyzed GWA data from 8842 Korean individuals and identified 15 genomic regions with one or more sequence variants associated with height (P<1 × 10-5). Of these, eight loci were newly identified in Koreans (SUPT3H, EXT1, FREM1, PALM2-AKAP2, NUP37-PMCH, IGF1, KRT20 and ANKRD60). The 15 significant loci account for approximately 1.0% of height variation, with a 3.7-cm difference between individuals with ≤8 height-increasing alleles (5.1%) and ≥19 height-increasing alleles (4.2%). We also examined the associations between height loci and idiopathic short stature (ISS). Five loci (SPAG17, KBTBD8, HHIP, HIST1H1D and ACAN) were significantly associated with ISS (uncorrected P<0.05), indicating that height-associated genes in the adult population are involved in extreme cases of short stature in children. This study validates previous reports of loci associated with human height and identified novel candidate regions involved in human growth and development.
AB - Height is a complex genetic trait that involves multiple genetic loci. Recently, 44 loci associated with height were identified in Caucasian individuals by large-scale genome-wide association (GWA) studies. To identify genetic variants influencing height in the Korean population, we analyzed GWA data from 8842 Korean individuals and identified 15 genomic regions with one or more sequence variants associated with height (P<1 × 10-5). Of these, eight loci were newly identified in Koreans (SUPT3H, EXT1, FREM1, PALM2-AKAP2, NUP37-PMCH, IGF1, KRT20 and ANKRD60). The 15 significant loci account for approximately 1.0% of height variation, with a 3.7-cm difference between individuals with ≤8 height-increasing alleles (5.1%) and ≥19 height-increasing alleles (4.2%). We also examined the associations between height loci and idiopathic short stature (ISS). Five loci (SPAG17, KBTBD8, HHIP, HIST1H1D and ACAN) were significantly associated with ISS (uncorrected P<0.05), indicating that height-associated genes in the adult population are involved in extreme cases of short stature in children. This study validates previous reports of loci associated with human height and identified novel candidate regions involved in human growth and development.
KW - Genome-wide association study
KW - Height
KW - Idiopathic short stature
KW - Korean
KW - Single-nucleotide polymorphism
UR - http://www.scopus.com/inward/record.url?scp=76149144003&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=76149144003&partnerID=8YFLogxK
U2 - 10.1038/jhg.2009.116
DO - 10.1038/jhg.2009.116
M3 - Article
C2 - 19893584
AN - SCOPUS:76149144003
VL - 55
SP - 27
EP - 31
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
IS - 1
ER -