Relevance of polymorphisms in MC4R and BDNF in short normal stature.

ABSTRACT:

Background

Variation in genes of the leptinergic-melanocortinergic system influence both body weight and height. Because short normal stature (SNS) is characterized by reduced body height, delayed maturation and leanness, allelic variation of genes in this pathway are hypothesized to affect this common condition.

Methods

We analyzed the coding regions of LEP, MC4R, MRAP2 and BDNF in 185 children with SNS (height < 5th percentile) to search for non-synonymous and frameshift variants. For association studies (two-sided χ²-tests) population-based data sets (ExAC, EVS and KORA) were used. Cyclic AMP accumulation, cell surface expression, central expression and MAP kinase activation were assayed in vitro to determine the functional implications of identified variants.<

SUBMITTER: Herrfurth N 

PROVIDER: S-EPMC6106737 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature