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Pregled bibliografske jedinice broj: 971232

Genome-wide meta-analysis of thyroid hormone T4 serum levels


Gunjača, Ivana; Matana, Antonela; Torlak, Vesela; Punda, Ante; Boraska Perica, Vesna; Polašek, Ozren; Hayward, Caroline; Zemunik, Tatijana; Barbalić, Maja
Genome-wide meta-analysis of thyroid hormone T4 serum levels // BABS2017 Abstract Book
Split, Hrvatska, 2017. str. 74-74 (predavanje, međunarodna recenzija, sažetak, znanstveni)


Naslov
Genome-wide meta-analysis of thyroid hormone T4 serum levels

Autori
Gunjača, Ivana ; Matana, Antonela ; Torlak, Vesela ; Punda, Ante ; Boraska Perica, Vesna ; Polašek, Ozren ; Hayward, Caroline ; Zemunik, Tatijana ; Barbalić, Maja

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
BABS2017 Abstract Book / - , 2017, 74-74

Skup
Second Adriatic Symposium on Biophysical Approaches in Biomedical Studies

Mjesto i datum
Split, Hrvatska, 24-28.09.2017

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Genome-wide association analysis ; meta-analysis ; T4

Sažetak
The prohormone thyroxine (T4) is the primary hormone secreted by the thyroid gland. It becomes activated upon its conversion to the bioactive hormone triiodothyronine (T3) in peripheral tissues. Levels of thyroid hormones (THs) in the serum are controlled by a feedback system involving the hypothalamus, pituitary gland, and thyroid gland. After biosynthesis, T4 is secreted into the plasma where it exhibits specific functions at different target organs. To identify genetic loci associated with T4 levels in the serum, we performed the first GWAS meta-analysis on 1, 121 individuals from two cohorts, Split and Korcula, derived from the ''10 001 Dalmatians project.'' A total of 7, 626, 603 variants, imputed using a 1000 Genomes reference panel and IMPUTE2 software, with minor allele frequency ≥ 1% and imputation quality ≥ 0.4, were analyzed for association. To test for association between genetic variants and T4 concentration, we performed a linear regression analysis adjusted for age, gender, and relatedness. All association results were combined using an inverse-variance meta-analysis. No single nucleotide polymorphism (SNP) reached the genome-wide significance, however, genetic variant rs12282281 was suggestively associated with serum T4 levels (P=4.38*10-7, β=−0.8791, SE=0.1740). This SNP is located in the SLC22A9 gene, which is a part of human solute carrier (SLC) gene superfamily. The action of THs take place within cells requiring the transport of THs across the plasma membrane. Several transport proteins involved in the cellular entry of THs have been identified including some from the SLC gene family. Thus, the association of the SLC22A9 variant with T4 serum levels is an interesting and biologically plausible finding that needs further confirmation through replication studies in different populations.

Izvorni jezik
Engleski