RT Journal Article SR Electronic T1 A missense variant in CREBRF is associated with taller stature in Samoans JF bioRxiv FD Cold Spring Harbor Laboratory SP 690586 DO 10.1101/690586 A1 Jenna C. Carlson A1 Samantha L. Rosenthal A1 Emily M. Russell A1 Nicola L. Hawley A1 Guangyun Sun A1 Hong Cheng A1 Take Naseri A1 Muagututi‘a Sefuiva Reupena A1 John Tuitele A1 Ranjan Deka A1 Stephen T. McGarvey A1 Daniel E. Weeks A1 Ryan L. Minster YR 2019 UL http://biorxiv.org/content/early/2019/07/02/690586.abstract 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.