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Genetic profile tied to familial short stature

22 Apr 2020

A polygenic risk predisposition score consisting of 10 genetic single nucleotide polymorphisms (SNPs) is useful for predicting the risk of familial short stature (FSS) and the height reduction tendency, according to a Taiwan study. 

The investigators examined the genetic profiles of 1,163 participants with FSS identified using a bootstrapping subsampling and genome-wide association studies (GWAS) method. They then developed a polygenic risk predisposition score for FSS risk prediction. Paediatric endocrinologists in Taiwan diagnosed the FSS participant group of Han Chinese ancestry.

The investigators identified 10 novel genetic SNPs and nine reported GWAS human height-related SNPs for FSS risk. The 10 novel SNPs were utilized as a polygenic risk predisposition score for FSS risk prediction (area under the curve, 0.940 in the testing group).

In addition, the FSS polygenic risk predisposition score also showed an association with the height reduction regression tendency in the general population.

“Thus, it might contribute to FSS risk in the Han Chinese population from Taiwan,” the investigators said.

In an earlier study, they suggested that 13 human height GWAS-identified SNPs correlated with FSS risk both alone and cumulatively. In particular, six affected genes—ZBTB38, ZNF638, LCORL, CABLES1, CDK10, and TSEN15—are located in the nucleus and have been implicated in embryonic, organismal and tissue development. [Sci Rep 2017;7:6372]

“Human height is an inheritable, polygenic trait under complex and multilocus genetic regulation,” the investigators said. “FSS, also called genetic short stature, is the most common type of short stature and is insufficiently known.”

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