CYP11B1 variants influence skeletal maturation via alternative splicing.
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ABSTRACT:
SUBMITTER: Grgic O
PROVIDER: S-EPMC8578655 | biostudies-literature | 2021 Nov
REPOSITORIES: biostudies-literature
Publications
CYP11B1 variants influence skeletal maturation via alternative splicing.
Grgic Olja O Gazzara Matthew R MR Chesi Alessandra A Medina-Gomez Carolina C Cousminer Diana L DL Mitchell Jonathan A JA Prijatelj Vid V de Vries Jard J Shevroja Enisa E McCormack Shana E SE Kalkwarf Heidi J HJ Lappe Joan M JM Gilsanz Vicente V Oberfield Sharon E SE Shepherd John A JA Kelly Andrea A Mahboubi Soroosh S Faucz Fabio R FR Feelders Richard A RA de Jong Frank H FH Uitterlinden Andre G AG Visser Jenny A JA Ghanem Louis R LR Wolvius Eppo B EB Hofland Leo J LJ Stratakis Constantine A CA Zemel Babette S BS Barash Yoseph Y Grant Struan F A SFA Rivadeneira Fernando F
Communications biology 20211109 1
We performed genome-wide association study meta-analysis to identify genetic determinants of skeletal age (SA) deviating in multiple growth disorders. The joint meta-analysis (N = 4557) in two multiethnic cohorts of school-aged children identified one locus, CYP11B1 (expression confined to the adrenal gland), robustly associated with SA (rs6471570-A; β = 0.14; P = 6.2 × 10<sup>-12</sup>). rs6410 (a synonymous variant in the first exon of CYP11B1 in high LD with rs6471570), was prioritized for fu ...[more]
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