Genetic linkage of human height is confirmed to 9q22 and Xq24

Yao Zhong Liu, Peng Xiao, Yan Fang Guo, Dong Hai Xiong, Lan Juan Zhao, Hui Shen, Yong Jun Liu, Volodymyr Dvornyk, Ji Rong Long, Hong Yi Deng, Jin Long Li, Robert R. Recker, Hong Wen Deng

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Abstract

Human height is an important and heritable trait. Our previous two genome-wide linkage studies using 630 (WG1 study) and an extended sample of 1,816 Caucasians (WG2 study) identified 9q22 [maximum LOD score (MLS)=2.74 in the WG2 study] and preliminarily confirmed Xq24 (two-point LOD score=1.91 in the WG1 study, 2.64 in the WG2 study) linked to height. Here, with a much further extended large sample containing 3,726 Caucasians, we performed a new genome-wide linkage scan and confirmed, in high significance, the two "regions" linkage to height. An MLS of 4.34 was detected on 9q22 and a two-point LOD score of 5.63 was attained for Xq24. In an independent sub-sample (i.e., the subjects not involved in the WG1 and WG2 studies), the two regions also achieved significant empirical P values (0.002 and 0.004, respectively) for "region-wise" linkage confirmation. Importantly, the two regions were replicated on a genotyping platform different from the WG1 and WG2 studies (i.e., a different set of markers and different genotyping instruments). Interestingly, 9q22 harbors the ROR2 gene, which is required for growth plate development, and Xq24 was linked to short stature. With the largest sample from a single population of the same ethnicity in the field of linkage studies for complex traits, our current study, together with two previous ones, provided overwhelming evidence substantiating 9q22 and Xq24 for height variation. In particular, our three consecutive whole genome studies are uniquely valuable as they represent the first practical (rather than simulated) example of how significant increase in sample size may improve linkage detection for human complex traits.

Original languageEnglish
Pages (from-to)295-304
Number of pages10
JournalHuman Genetics
Volume119
Issue number3
DOIs
StatePublished - Apr 2006

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Genetic Linkage
Genome
Growth Plate
Growth and Development
Sample Size
Population
Genes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics

Cite this

Liu, Y. Z., Xiao, P., Guo, Y. F., Xiong, D. H., Zhao, L. J., Shen, H., ... Deng, H. W. (2006). Genetic linkage of human height is confirmed to 9q22 and Xq24. Human Genetics, 119(3), 295-304. https://doi.org/10.1007/s00439-006-0136-y

Genetic linkage of human height is confirmed to 9q22 and Xq24. / Liu, Yao Zhong; Xiao, Peng; Guo, Yan Fang; Xiong, Dong Hai; Zhao, Lan Juan; Shen, Hui; Liu, Yong Jun; Dvornyk, Volodymyr; Long, Ji Rong; Deng, Hong Yi; Li, Jin Long; Recker, Robert R.; Deng, Hong Wen.

In: Human Genetics, Vol. 119, No. 3, 04.2006, p. 295-304.

Research output: Contribution to journalArticle

Liu, YZ, Xiao, P, Guo, YF, Xiong, DH, Zhao, LJ, Shen, H, Liu, YJ, Dvornyk, V, Long, JR, Deng, HY, Li, JL, Recker, RR & Deng, HW 2006, 'Genetic linkage of human height is confirmed to 9q22 and Xq24', Human Genetics, vol. 119, no. 3, pp. 295-304. https://doi.org/10.1007/s00439-006-0136-y
Liu YZ, Xiao P, Guo YF, Xiong DH, Zhao LJ, Shen H et al. Genetic linkage of human height is confirmed to 9q22 and Xq24. Human Genetics. 2006 Apr;119(3):295-304. https://doi.org/10.1007/s00439-006-0136-y
Liu, Yao Zhong ; Xiao, Peng ; Guo, Yan Fang ; Xiong, Dong Hai ; Zhao, Lan Juan ; Shen, Hui ; Liu, Yong Jun ; Dvornyk, Volodymyr ; Long, Ji Rong ; Deng, Hong Yi ; Li, Jin Long ; Recker, Robert R. ; Deng, Hong Wen. / Genetic linkage of human height is confirmed to 9q22 and Xq24. In: Human Genetics. 2006 ; Vol. 119, No. 3. pp. 295-304.
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abstract = "Human height is an important and heritable trait. Our previous two genome-wide linkage studies using 630 (WG1 study) and an extended sample of 1,816 Caucasians (WG2 study) identified 9q22 [maximum LOD score (MLS)=2.74 in the WG2 study] and preliminarily confirmed Xq24 (two-point LOD score=1.91 in the WG1 study, 2.64 in the WG2 study) linked to height. Here, with a much further extended large sample containing 3,726 Caucasians, we performed a new genome-wide linkage scan and confirmed, in high significance, the two {"}regions{"} linkage to height. An MLS of 4.34 was detected on 9q22 and a two-point LOD score of 5.63 was attained for Xq24. In an independent sub-sample (i.e., the subjects not involved in the WG1 and WG2 studies), the two regions also achieved significant empirical P values (0.002 and 0.004, respectively) for {"}region-wise{"} linkage confirmation. Importantly, the two regions were replicated on a genotyping platform different from the WG1 and WG2 studies (i.e., a different set of markers and different genotyping instruments). Interestingly, 9q22 harbors the ROR2 gene, which is required for growth plate development, and Xq24 was linked to short stature. With the largest sample from a single population of the same ethnicity in the field of linkage studies for complex traits, our current study, together with two previous ones, provided overwhelming evidence substantiating 9q22 and Xq24 for height variation. In particular, our three consecutive whole genome studies are uniquely valuable as they represent the first practical (rather than simulated) example of how significant increase in sample size may improve linkage detection for human complex traits.",
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AU - Dvornyk, Volodymyr

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