The Role of Height-associated Loci Identified in Genome Wide Association Studies in the Determination of Pediatric Stature

Overview

Journal BMC Med Genet

Publisher Biomed Central

Specialty Genetics

Date 2010 Jun 16

PMID 20546612

Citations 34

Authors

Jianhua Zhao

Mingyao Li

Jonathan P Bradfield

Haitao Zhang

Frank D Mentch

Kai Wang

Patrick M Sleiman

Cecilia E Kim

Joseph T Glessner

Cuiping Hou

Brendan J Keating

Kelly A Thomas

Maria L Garris

Sandra Deliard

Edward C Frackelton

F George Otieno

Rosetta M Chiavacci

Robert I Berkowitz

Hakon Hakonarson

Struan F A Grant

Affiliations

Soon will be listed here.

Abstract

Background: Human height is considered highly heritable and correlated with certain disorders, such as type 2 diabetes and cancer. Despite environmental influences, genetic factors are known to play an important role in stature determination. A number of genetic determinants of adult height have already been established through genome wide association studies.

Methods: To examine 51 single nucleotide polymorphisms (SNPs) corresponding to the 46 previously reported genomic loci for height in 8,184 European American children with height measurements. We leveraged genotyping data from our ongoing GWA study of height variation in children in order to query the 51 SNPs in this pediatric cohort.

Results: Sixteen of these SNPs yielded at least nominally significant association to height, representing fifteen different loci including EFEMP1-PNPT1, GPR126, C6orf173, SPAG17, Histone class 1, HLA class III and GDF5-UQCC. Other loci revealed no evidence for association, including HMGA1 and HMGA2. For the 16 associated variants, the genotype score explained 1.64% of the total variation for height z-score.

Conclusion: Among 46 loci that have been reported to associate with adult height to date, at least 15 also contribute to the determination of height in childhood.

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