ESPEYB21 3. Thyroid Thyroid Function - Genetic Determinants and Associations with Health and (Thyroid) Disease (4 abstracts)
3.6. Genetic determinants of thyroid function in children
Tessa A Mulder , Purdey J Campbell , Peter N Taylor , Robin P Peeters , Scott G Wilson , Marco Medici , Colin Dayan , Vincent V W Jaddoe , John P Walsh , Nicholas G Martin , Henning Tiemeier & Tim I M Korevaar
Eur J Endocrinol. 2023 Aug 2;189(2):164-174. doi: 10.1093/ejendo/lvad086. PMID: 37530217
Brief Summary: This study investigated the genetic determinants of thyroid function in newborns and (pre)school children by analyzing the associations between single nucleotide polymorphisms (SNPs) previously identified in adults, and childhood TSH within the reference interval, and FT4 concentrations. It included three large population-based cohorts with data on genetic variants and thyroid function: Generation R (Netherlands), ALSPAC (UK), and BLTS (Australia), comprising 7,231 children. 30/60 “adult” TSH SNPs and 11/31 “adult” FT4 SNPs were also associated with thyroid function in childhood, with some SNPs ( AADAT, GLIS3, TM4SF4, and VEGFA ) exhibiting notably larger effect sizes in children compared to adults. Interestingly, genetic factors explained 5.3%-8.4% of TSH variability and 1.5%-4.2% of FT4 variability in children. Five TSH, but no FT4 SNPs were associated with thyroid function in neonates.
This study advances understanding of the genetic regulation of thyroid function in early life, showing that genetic variants associated with thyroid function in adults also influence childhood thyroid function, with some variants having stronger effects in children. However, more than 90% of TSH variability and more than 95% of FT4 variability in children cannot be explained by genetic factors. In a large Dutch twin study, Zwaveling-Soonawala et al found that environmental factors were the major factor influencing variability in neonatal screening blood (total) T4 concentrations. Because T4 concentrations were measured on average on the fifth day of life, the fetal environment is the most likely candidate for the (shared) environmental influences on postnatal T4 concentrations, possibly by epigenetic modifications taking place in the fetal period [1].
Reference: 1. Nitash Zwaveling-Soonawala 1, Catharina E M van Beijsterveldt 1, Ertirea T Mesfum 1, Brenda Wiedijk 1, Petra Oomen 1, Martijn J J Finken 1, Dorret I Boomsma 1, A S Paul van Trotsenburg 1. Fetal Environment Is a Major Determinant of the Neonatal Blood Thyroxine Level: Results of a Large Dutch Twin Study. J Clin Endocrinol Metab. 2015 Jun;100(6):2388-95. doi: 10.1210/jc.2015-1429. PMID: 25825950
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ESPE Yearbook of Paediatric Endocrinology
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