Carlson Jenna C, Rosenthal Samantha L, Russell Emily M, Hawley Nicola L, Sun Guangyun, Cheng Hong, Naseri Take, Reupena Muagututi'a S, Tuitele John, Deka Ranjan, McGarvey Stephen T, Weeks Daniel E, Minster Ryan L
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Am J Hum Biol. 2020 Nov;32(6):e23414. doi: 10.1002/ajhb.23414. Epub 2020 Mar 19.
Studies have demonstrated that rs373863828, a missense variant 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 an association of this variant with height.
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.
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.
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.
研究表明，CREBRF基因中的错义变体rs373863828与包括体重指数（BMI）、肥胖、体脂百分比、臀围和腹围在内的多种人体测量特征相关。鉴于身高与肥胖之间的生物学关系，我们推测该变体对BMI的影响可能部分归因于其与身高的关联。
我们使用线性混合模型，在两个成人队列以及一个单独的儿童队列（5至18岁）中，对萨摩亚人群中rs373863828的次要等位基因与身高相关这一假设进行了检验。
我们发现，在萨摩亚成年人中，rs373863828与更高的平均身高之间存在密切关系（次要等位基因的每个拷贝平均身高高出0.77厘米），在萨摩亚儿童中也有相同方向的影响。
这些结果表明，最初通过与较高BMI的关联而被识别出的CREBRF基因中的错义变体rs373863828，可能与影响包括身高在内的整体体型的潜在生物学机制有关。
