Identification of 15 loci influencing height in a Korean population.
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 x 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 < or =8 height-increasing alleles (5.1%) and > or =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.
Kim
Jae-Jung
JJ
Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Korea.
Lee
Hae-In
HI
Park
Taesung
T
Kim
Kyunga
K
Lee
Jong-Eun
JE
Cho
Nam Han
NH
Shin
Chol
C
Cho
Yoon Shin
YS
Lee
Jong-Young
JY
Han
Bok-Ghee
BG
Yoo
Han-Wook
HW
Lee
Jong-Keuk
JK
D000328:Adult; D000818:Animals; D044466:Asian People / Q000235:genetics; D001827:Body Height / Q000235:genetics*; D002648:Child; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D055106:Genome-Wide Association Study; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D051379:Mice; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*
D011506:Proteins