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BMC Medical Genetics

, 18:54

Genetic epidemiology and genetic associations


BackgroundSelenium is an essential trace and there is a high selenium concentration in the thyroid gland. Selenium deficiency may impair the thyroid function. The aim of this study was to investigate the association between three selenoprotein genes polymorphisms and autoimmune thyroid diseases.

MethodsWe genotyped six single-nucleotide polymorphisms SNPs, rs6865453 in selenoprotein P gene SELENOP, rs713041 rs2074451 rs3746165 in glutathione peroxidase 4 gene GPX4 and rs28665122 and rs7178239 in selenoprotein S gene SELENOS by MassARRAY system using the chip-based matrix-assisted laser desorption ionization time-of-flight mass spectrometry technology in 1060 patients with autoimmune thyroid diseases and 938 healthy controls.

ResultsMajor alleles in rs6865453 of SELENOP, rs713041, rs2074451, rs3746165 of GPX4 decreased while the major allele C in rs28665122 of SELENOS increased in AITD patients than in the control. The allele C and genotype CC in rs7178239 of SELENOS showed different trend in GD and HT patients when compared with the control. All the distribution difference showed nonsignificant. Analysis according to clinical features including ophthalmopathy, hypothyroidism and family history came out to be negative either.

ConclusionsOur findings suggest non-association between three selenoprotein genes and AITD, conflicting to the positive result in another population. Different selenium nutrition status in different populations may contribute to conflicting results, the contribution of genetic variants in AITD mechanism may be another reason.

KeywordsSelenoprotein P gene SELENOP Glutathione peroxidase 4 gene GPX4 Selenoprotein S gene SELENOS Single-nucleotide polymorphisms SNPs Autoimmune thyroid disease AITD AbbreviationsAITDAutoimmune thyroid disease

CIConfidence interval

EREndoplasmic reticulum

GDGraves’ disease

GPX4Glutathione peroxidase 4 gene

GPx4Phospholipid hydroperoxide glutathione peroxidase

HTHashimoto’s thyroiditism

IBDInflammatory bowel disease



OROdds ratio

RARheumatoid arthritis

ROSReactive oxygen species

SELENOPSelenoprotein P gene

SELENOSSelenoprotein S gene

SePPSe transporter selenoprotein P

SNPsSingle-nucleotide polymorphisms

T1DType 1 diabetes

TAOThyroid associated orbitopathy

TGAbAntibodies against thyroglobulin

TNF-aTumor necrosis factor-a

TPOAbThyroid peroxidase antibodies

TRAbThyrotropin receptor antibodies

Autor: Ling Xiao - Jianghong Yuan - Qiuming Yao - Ni Yan - Ronghua Song - Wenjuan Jiang - Danfeng Li - Liangfeng Shi - Jin-an Zh

Fuente: https://link.springer.com/

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