engleski

Genetic loci implicated in regulation of thyroid function

Thyroid-stimulating hormone (TSH) is a sensitive indicator and the most important diagnostic marker for thyroid function. Relatively small variations of TSH levels may indicate hypothyroidism and hyperthyroidism. To date more than 20 variants associated with TSH level in general population have been identified. In order to confirm known and identify novel variants underlying TSH levels we conducted a genome-wide association study of TSH levels in Croatian individuals. Circulating TSH in plasma of 1012 participants from Split, Croatia was determined by imunoassay method, and 41 of them with a history of thyroid disease treatment were excluded. Genome-wide association study (GWAS) of 14 million genotyped and imputed single- nucleotide polymorphisms (SNPs) was performed. Association test was done using linear regression adjusted for sex, age and family relationships assuming an additive genetic model. Several variants on 2p22.3 (rs34234709), 2p16.1 (rs150887536), 6q23.3(rs72975297), 12q23.2(rs140843049), 12q24.13 (rs80268994), 14q24.3 (rs11624628) and 14q32.33 (rs144755655) showed suggestive evidence of association (P=9.91x10^-7, P=5.37x10^-7, P=8.66x10^-7, P=5.01x10^-7, P=9.64x10^-7, P=8.76x10^-7, P=3.50x10^-7, respectively). This study found several loci that showed suggestive associations with TSH level in general population. These results should be checked in a larger sample size.

genome-wide association analysis ; meta-analysis ; TSH

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