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Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.

Soranzo, N, Rivadeneira, F, Chinappen-Horsley, U, Malkina, I, Richards, JB, Hammond, N, Stolk, L, Nica, A, Inouye, M, Hofman, A, Stephens, J, Wheeler, E, Arp, P, Gwilliam, R, Jhamai, PM, Potter, S, Chaney, A, Ghori, MJ, Ravindrarajah, R, Ermakov, S, Estrada, K, Pols, HA, Williams, FM, McArdle, WL, van Meurs, JB, Loos, RJ, Dermitzakis, ET, Ahmadi, KR, Hart, DJ, Ouwehand, WH, Wareham, NJ, Barroso, I, Sandhu, MS, Strachan, DP, Livshits, G, Spector, TD, Uitterlinden, AG and Deloukas, P (2009) Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. PLoS Genet, 5 (4).

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Abstract

Recent genome-wide (GW) scans have identified several independent loci affecting human stature, but their contribution through the different skeletal components of height is still poorly understood. We carried out a genome-wide scan in 12,611 participants, followed by replication in an additional 7,187 individuals, and identified 17 genomic regions with GW-significant association with height. Of these, two are entirely novel (rs11809207 in CATSPER4, combined P-value = 6.1x10(-8) and rs910316 in TMED10, P-value = 1.4x10(-7)) and two had previously been described with weak statistical support (rs10472828 in NPR3, P-value = 3x10(-7) and rs849141 in JAZF1, P-value = 3.2x10(-11)). One locus (rs1182188 at GNA12) identifies the first height eQTL. We also assessed the contribution of height loci to the upper- (trunk) and lower-body (hip axis and femur) skeletal components of height. We find evidence for several loci associated with trunk length (including rs6570507 in GPR126, P-value = 4x10(-5) and rs6817306 in LCORL, P-value = 4x10(-4)), hip axis length (including rs6830062 at LCORL, P-value = 4.8x10(-4) and rs4911494 at UQCC, P-value = 1.9x10(-4)), and femur length (including rs710841 at PRKG2, P-value = 2.4x10(-5) and rs10946808 at HIST1H1D, P-value = 6.4x10(-6)). Finally, we used conditional analyses to explore a possible differential contribution of the height loci to these different skeletal size measurements. In addition to validating four novel loci controlling adult stature, our study represents the first effort to assess the contribution of genetic loci to three skeletal components of height. Further statistical tests in larger numbers of individuals will be required to verify if the height loci affect height preferentially through these subcomponents of height.

Item Type: Article
Authors :
NameEmailORCID
Soranzo, NUNSPECIFIEDUNSPECIFIED
Rivadeneira, FUNSPECIFIEDUNSPECIFIED
Chinappen-Horsley, UUNSPECIFIEDUNSPECIFIED
Malkina, IUNSPECIFIEDUNSPECIFIED
Richards, JBUNSPECIFIEDUNSPECIFIED
Hammond, NUNSPECIFIEDUNSPECIFIED
Stolk, LUNSPECIFIEDUNSPECIFIED
Nica, AUNSPECIFIEDUNSPECIFIED
Inouye, MUNSPECIFIEDUNSPECIFIED
Hofman, AUNSPECIFIEDUNSPECIFIED
Stephens, JUNSPECIFIEDUNSPECIFIED
Wheeler, EUNSPECIFIEDUNSPECIFIED
Arp, PUNSPECIFIEDUNSPECIFIED
Gwilliam, RUNSPECIFIEDUNSPECIFIED
Jhamai, PMUNSPECIFIEDUNSPECIFIED
Potter, SUNSPECIFIEDUNSPECIFIED
Chaney, AUNSPECIFIEDUNSPECIFIED
Ghori, MJUNSPECIFIEDUNSPECIFIED
Ravindrarajah, RUNSPECIFIEDUNSPECIFIED
Ermakov, SUNSPECIFIEDUNSPECIFIED
Estrada, KUNSPECIFIEDUNSPECIFIED
Pols, HAUNSPECIFIEDUNSPECIFIED
Williams, FMUNSPECIFIEDUNSPECIFIED
McArdle, WLUNSPECIFIEDUNSPECIFIED
van Meurs, JBUNSPECIFIEDUNSPECIFIED
Loos, RJUNSPECIFIEDUNSPECIFIED
Dermitzakis, ETUNSPECIFIEDUNSPECIFIED
Ahmadi, KRk.ahmadi@surrey.ac.ukUNSPECIFIED
Hart, DJUNSPECIFIEDUNSPECIFIED
Ouwehand, WHUNSPECIFIEDUNSPECIFIED
Wareham, NJUNSPECIFIEDUNSPECIFIED
Barroso, IUNSPECIFIEDUNSPECIFIED
Sandhu, MSUNSPECIFIEDUNSPECIFIED
Strachan, DPUNSPECIFIEDUNSPECIFIED
Livshits, GUNSPECIFIEDUNSPECIFIED
Spector, TDUNSPECIFIEDUNSPECIFIED
Uitterlinden, AGUNSPECIFIEDUNSPECIFIED
Deloukas, PUNSPECIFIEDUNSPECIFIED
Date : April 2009
Identification Number : https://doi.org/10.1371/journal.pgen.1000445
Uncontrolled Keywords : Adolescent, Adult, Aged, Aged, 80 and over, Body Height, Bone and Bones, Cohort Studies, European Continental Ancestry Group, Female, Genome-Wide Association Study, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Skeleton, Young Adult
Depositing User : Symplectic Elements
Date Deposited : 17 May 2017 09:48
Last Modified : 17 May 2017 14:45
URI: http://epubs.surrey.ac.uk/id/eprint/825184

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