Identification of novel genetic variants associated with short stature in a Baka Pygmies population.

ABSTRACT: Human growth is a complex trait determined by genetic factors in combination with external stimuli, including environment, nutrition and hormonal status. In the past, several genome-wide association studies (GWAS) have collectively identified hundreds of genetic variants having a putative effect on determining adult height in different worldwide populations. Theoretically, a valuable approach to better understand the mechanisms of complex traits as adult height is to study a population exhibiting extreme stature phenotypes, such as African Baka Pygmies. After phenotypic characterization, we sequenced the whole exomes of a cohort of Baka Pygmies and their non-Pygmies Bantu neighbors to highlight genetic variants associated with the reduced stature. Whole exome data analysis revealed 29 sing

SUBMITTER: Zoccolillo M 

PROVIDER: S-EPMC7519921 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature