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A missense variant in CREBRF is associated with taller stature in Samoans

View ORCID ProfileJenna C. Carlson, Samantha L. Rosenthal, Emily M. Russell, Nicola L. Hawley, Guangyun Sun, Hong Cheng, Take Naseri, Muagututi‘a Sefuiva Reupena, John Tuitele, Ranjan Deka, Stephen T. McGarvey, View ORCID ProfileDaniel E. Weeks, View ORCID ProfileRyan L. Minster
doi: https://doi.org/10.1101/690586
Jenna C. Carlson
1Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
2Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
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  • For correspondence: jnc35@pitt.edu
Samantha L. Rosenthal
1Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
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Emily M. Russell
1Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
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Nicola L. Hawley
3Department of Chronic Disease Epidemiology, School of Public Health, Yale University, New Haven, CT, USA
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Guangyun Sun
4Department of Environmental Health, College of Medicine, University of Cincinnati, Cincinnati, OH, USA
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Hong Cheng
4Department of Environmental Health, College of Medicine, University of Cincinnati, Cincinnati, OH, USA
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Take Naseri
5Ministry of Health, Government of Samoa, Apia, Samoa
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Muagututi‘a Sefuiva Reupena
6Lutia i Puava ae Mapu i Fagalele, Apia, Samoa
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John Tuitele
7Department of Public Health, Government of American Samoa, Pago Pago, American Samoa, USA
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Ranjan Deka
4Department of Environmental Health, College of Medicine, University of Cincinnati, Cincinnati, OH, USA
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Stephen T. McGarvey
8International Health Institute and Department of Epidemiology, School of Public Health, Brown University, Providence, RI, USA
9Department of Anthropology, Brown University, Providence, RI, USA
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Daniel E. Weeks
1Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
2Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
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Ryan L. Minster
1Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
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Abstract

Objectives Studies have demonstrated that rs373863828, a missense mutation in CREBRF, is associated with a number of anthropometric traits including body mass index (BMI), obesity, percent body fat, hip circumference, and abdominal circumference. Given the biological relationship between height and adiposity, we hypothesized that the effect of this variant on BMI might be due in part to a previously untested association of this variant with height.

Methods We tested the hypothesis that minor allele of rs373863828 is associated with height in a Samoan population in two adult cohorts and in a separate cohort of children (age 5 - 18 years old) using linear mixed modeling.

Results We found evidence of a strong relationship between rs373863828 and greater mean height in Samoan adults (0.77 cm greater average height for each copy of the minor allele) with the same direction of effect in Samoan children.

Conclusions These results suggest that the missense variant rs373863828 in CREBRF, first identified through an association with larger BMI, may be related to an underlying biological mechanism affecting overall body size including stature.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.
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Posted July 02, 2019.
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A missense variant in CREBRF is associated with taller stature in Samoans
Jenna C. Carlson, Samantha L. Rosenthal, Emily M. Russell, Nicola L. Hawley, Guangyun Sun, Hong Cheng, Take Naseri, Muagututi‘a Sefuiva Reupena, John Tuitele, Ranjan Deka, Stephen T. McGarvey, Daniel E. Weeks, Ryan L. Minster
bioRxiv 690586; doi: https://doi.org/10.1101/690586
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A missense variant in CREBRF is associated with taller stature in Samoans
Jenna C. Carlson, Samantha L. Rosenthal, Emily M. Russell, Nicola L. Hawley, Guangyun Sun, Hong Cheng, Take Naseri, Muagututi‘a Sefuiva Reupena, John Tuitele, Ranjan Deka, Stephen T. McGarvey, Daniel E. Weeks, Ryan L. Minster
bioRxiv 690586; doi: https://doi.org/10.1101/690586

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