Runs of homozygosity identify a recessive locus 12q21.31 for human adult height

Tie Lin Yang, Yan Guo, Li Shu Zhang, Qing Tian, Han Yan, Christopher J. Papasian, Robert R. Recker, Hong Wen Deng

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Background: Runs of homozygosity (ROHs) have recently been proposed to have potential recessive significance for complex traits. Human adult height is a classic complex trait with heritability estimated up to 90%, and recessive loci that contribute to adult height variation have been identified. Methods: Using the Affymetrix 500K array set, we performed a genome-wide ROHs analysis to identify genetic loci for adult height in a discovery sample including 998 unrelated Caucasian subjects from the midwest United States. For the significant ROHs identified, we replicated these findings in a family-based sample of 8385 Caucasian subjects from the Framingham Heart Study (FHS). Results: Our results revealed one ROH, located in 12q21.31, that had a strong association with adult height variation both in the discovery (P = 6.69 × 10-6) and replication samples (P = 5.40 × 10-5). We further validated the presence of this ROH using the HapMap sample. Conclusion: Our findings open a new avenue for identifying loci with recessive contributions to adult height variation. Further molecular and functional studies are needed to explore and clarify the potential mechanism.

Original languageEnglish
Pages (from-to)3777-3782
Number of pages6
JournalJournal of Clinical Endocrinology and Metabolism
Volume95
Issue number8
DOIs
StatePublished - Aug 2010

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HapMap Project
Genetic Loci
Genes
Genome

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Clinical Biochemistry
  • Endocrinology
  • Biochemistry, medical
  • Endocrinology, Diabetes and Metabolism

Cite this

Yang, T. L., Guo, Y., Zhang, L. S., Tian, Q., Yan, H., Papasian, C. J., ... Deng, H. W. (2010). Runs of homozygosity identify a recessive locus 12q21.31 for human adult height. Journal of Clinical Endocrinology and Metabolism, 95(8), 3777-3782. https://doi.org/10.1210/jc.2009-1715

Runs of homozygosity identify a recessive locus 12q21.31 for human adult height. / Yang, Tie Lin; Guo, Yan; Zhang, Li Shu; Tian, Qing; Yan, Han; Papasian, Christopher J.; Recker, Robert R.; Deng, Hong Wen.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 95, No. 8, 08.2010, p. 3777-3782.

Research output: Contribution to journalArticle

Yang, Tie Lin ; Guo, Yan ; Zhang, Li Shu ; Tian, Qing ; Yan, Han ; Papasian, Christopher J. ; Recker, Robert R. ; Deng, Hong Wen. / Runs of homozygosity identify a recessive locus 12q21.31 for human adult height. In: Journal of Clinical Endocrinology and Metabolism. 2010 ; Vol. 95, No. 8. pp. 3777-3782.
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