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CYP11B1 variants influence skeletal maturation via alternative splicing.

Olja Grgic1,2,3, Matthew R Gazzara4,5, Alessandra Chesi6

  • 1Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.

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Summary

Genetic analysis identified CYP11B1 as a key gene influencing skeletal age (SA) in children. This adrenal gland gene

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Area of Science:

  • Genetics
  • Endocrinology
  • Molecular Biology

Background:

  • Skeletal age (SA) deviation occurs in various growth disorders.
  • Identifying genetic factors influencing SA is crucial for understanding growth.
  • The adrenal gland's role in SA is not fully understood.

Purpose of the Study:

  • To identify genetic determinants of skeletal age (SA) using genome-wide association study meta-analysis.
  • To investigate the functional role of identified genetic variants in adrenal gland function.

Main Methods:

  • Genome-wide association study meta-analysis of two multiethnic cohorts (N=4557).
  • Prioritization of a synonymous variant (rs6410) in CYP11B1 for functional analysis.
  • Analysis of adrenal RNA-sequencing data (GTEx) and RT-PCR validation.

Main Results:

  • A significant association was found between the CYP11B1 locus and SA (rs6471570-A; P=6.2 × 10⁻¹²).
  • The variant rs6410 in CYP11B1 was linked to altered alternative splicing events in adrenal tissue.
  • These splicing changes were associated with intron retention and altered exon inclusion/exclusion.

Conclusions:

  • CYP11B1, encoding 11-β-hydroxylase, plays a role in adrenal steroidogenesis and influences skeletal age in children.
  • Alternative splicing of CYP11B1 is a potential mechanism affecting SA.
  • Findings highlight the importance of adrenal steroidogenesis in regulating skeletal maturation.