A missense variant in CREBRF is associated with taller stature in Samoans.
A missense variant in CREBRF is associated with taller stature in Samoans.
复制标题
DOI：
10.1002/ajhb.23414
复制
发表时间：
2020-11
期刊：
影响因子：
--
通讯作者：
Minster RL
中科院分区：
文献类型：
--
作者：
Carlson JC;Rosenthal SL;Russell EM;Hawley NL;Sun G;Cheng H;Naseri T;Reupena MS;Tuitele J;Deka R;McGarvey ST;Weeks DE;Minster RL
研究表明，CREBRF的错义变体rs373863828与许多人体测量学特征相关，包括体重指数（BMI）、肥胖、体脂率、臀围和腹围。鉴于身高和肥胖之间的生物学关系，我们假设这种变异对BMI的影响可能部分归因于这种变异与身高的关联。我们使用线性混合模型在萨摩亚人群的两个成人队列和一个单独的儿童队列（5 - 18岁）中检验了rs373863828的小等位基因与身高相关的假设。我们发现了rs373863828基因与萨摩亚成人较高的平均身高之间存在密切关系的证据（每个小等位基因副本的平均身高增加0.77厘米），萨摩亚儿童的影响方向相同。这些结果表明，CREBRF中的错义变异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，该变异最初是通过与较大的BMI相关而被发现的。
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.
登录
查看更多内容
影响因子：
5.3
作者：
Martyn, Amanda C.;Choleris, Elena;Lu, Ray
通讯作者：
Lu, Ray
影响因子：
--
作者：
Aberg, Karolina;Dai, Feng;McGarvey, Stephen T.
通讯作者：
McGarvey, Stephen T.
影响因子：
4.9
作者：
Dai, F.;Keighley, E. D.;McGarvey, S. T.
通讯作者：
McGarvey, S. T.
影响因子：
5.8
作者：
Manichaikul, Ani;Mychaleckyj, Josyf C.;Chen, Wei-Min
通讯作者：
Chen, Wei-Min
DOI：
10.2471/blt.07.043497
发表时间：
2007-09-01
期刊：
Bulletin of the World Health Organization: International Journal of Public Health
影响因子：
--
作者：
Onis, Mercedes de;Onyango, Adelheid W;Siekmann, Jonathan
通讯作者：
Siekmann, Jonathan