PT  - JOURNAL ARTICLE
AU  - Jenna C. Carlson
AU  - Samantha L. Rosenthal
AU  - Emily M. Russell
AU  - Nicola L. Hawley
AU  - Guangyun Sun
AU  - Hong Cheng
AU  - Take Naseri
AU  - Muagututi‘a Sefuiva Reupena
AU  - John Tuitele
AU  - Ranjan Deka
AU  - Stephen T. McGarvey
AU  - Daniel E. Weeks
AU  - Ryan L. Minster
TI  - A missense variant in <em>CREBRF</em> is associated with taller stature in Samoans
AID  - 10.1101/690586
DP  - 2019 Jan 01
TA  - bioRxiv
PG  - 690586
4099  - http://biorxiv.org/content/early/2019/07/02/690586.short
4100  - http://biorxiv.org/content/early/2019/07/02/690586.full
AB  - 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.