12 Citations (Scopus)

Abstract

Background: The occurrence of autoimmune thyroid disease (AITD) is known to have a major adverse effect on interferon (INF)-α treatment. The genetic variant of the INF regulatory factor 8 (IRF8), a type 1 INF regulator, is associated with susceptibility to systemic lupus erythematosus and multiple sclerosis. In this study, we investigated possible associations of the IRF8 polymorphisms, rs17445836 and rs2280381, with AITD in an ethnic Chinese population. Material and methods: In total, 278 patients with Graves' disease (GD) and 55 patients with Hashimoto's thyroiditis (HT), and 252 healthy controls were enrolled. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing were used for genotyping. Results: Significantly lower frequencies of the GA genotype and A allele of rs17445836 were found in the HT group than in the control group (P = 0·028, odds ratio (OR) = 4·71 and P = 0·022, OR = 4·40, respectively). Both rs17445836 and rs2280381 were associated with the presence of an antimicrosomal antibody (AmiA), and rs2280381 was also associated with the presence of an antithyroglobulin antibody (ATA) in AITD. Moreover, rs17445836 was associated with the level of AmiA in AITD. Conclusions: rs17445836 of IRF8 is a possible genetic variant associated with the development of HT. rs17445836 was associated with the production of thyroid antibody, and the GG genotype of rs17445836 was associated with a higher AmiA titre than the GA genotype.

Original languageEnglish
Pages (from-to)711-719
Number of pages9
JournalEuropean Journal of Clinical Investigation
Volume45
Issue number7
DOIs
Publication statusPublished - Jul 1 2015

Fingerprint

Thyroid Diseases
Polymorphism
Hashimoto Disease
Autoimmune Diseases
Genes
Genotype
Antibodies
Odds Ratio
Interferon Type I
Graves Disease
Restriction Fragment Length Polymorphisms
Systemic Lupus Erythematosus
Interferons
Multiple Sclerosis
Polymerase chain reaction
Antibody Formation
Thyroid Gland
Alleles
Polymerase Chain Reaction
Control Groups

Keywords

  • Autoimmune thyroid disease
  • Graves' disease
  • Hashimoto's thyroiditis
  • Interferon regulatory factor 8

ASJC Scopus subject areas

  • Medicine(all)
  • Clinical Biochemistry
  • Biochemistry

Cite this

@article{05255ccfd1c9406caafb3a811fac76d7,
title = "Association of IRF8 gene polymorphisms with autoimmune thyroid disease",
abstract = "Background: The occurrence of autoimmune thyroid disease (AITD) is known to have a major adverse effect on interferon (INF)-α treatment. The genetic variant of the INF regulatory factor 8 (IRF8), a type 1 INF regulator, is associated with susceptibility to systemic lupus erythematosus and multiple sclerosis. In this study, we investigated possible associations of the IRF8 polymorphisms, rs17445836 and rs2280381, with AITD in an ethnic Chinese population. Material and methods: In total, 278 patients with Graves' disease (GD) and 55 patients with Hashimoto's thyroiditis (HT), and 252 healthy controls were enrolled. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing were used for genotyping. Results: Significantly lower frequencies of the GA genotype and A allele of rs17445836 were found in the HT group than in the control group (P = 0·028, odds ratio (OR) = 4·71 and P = 0·022, OR = 4·40, respectively). Both rs17445836 and rs2280381 were associated with the presence of an antimicrosomal antibody (AmiA), and rs2280381 was also associated with the presence of an antithyroglobulin antibody (ATA) in AITD. Moreover, rs17445836 was associated with the level of AmiA in AITD. Conclusions: rs17445836 of IRF8 is a possible genetic variant associated with the development of HT. rs17445836 was associated with the production of thyroid antibody, and the GG genotype of rs17445836 was associated with a higher AmiA titre than the GA genotype.",
keywords = "Autoimmune thyroid disease, Graves' disease, Hashimoto's thyroiditis, Interferon regulatory factor 8",
author = "Jiunn-Diann Lin and Yuan-Hung Wang and Liu, {Chia Hung} and Ying-Chin Lin and Jui-An Lin and Yuh-Feng Lin and Tang, {Kam Tsun} and Chao-Wen Cheng",
year = "2015",
month = "7",
day = "1",
doi = "10.1111/eci.12463",
language = "English",
volume = "45",
pages = "711--719",
journal = "European Journal of Clinical Investigation",
issn = "0014-2972",
publisher = "Wiley-Blackwell",
number = "7",

}

TY - JOUR

T1 - Association of IRF8 gene polymorphisms with autoimmune thyroid disease

AU - Lin, Jiunn-Diann

AU - Wang, Yuan-Hung

AU - Liu, Chia Hung

AU - Lin, Ying-Chin

AU - Lin, Jui-An

AU - Lin, Yuh-Feng

AU - Tang, Kam Tsun

AU - Cheng, Chao-Wen

PY - 2015/7/1

Y1 - 2015/7/1

N2 - Background: The occurrence of autoimmune thyroid disease (AITD) is known to have a major adverse effect on interferon (INF)-α treatment. The genetic variant of the INF regulatory factor 8 (IRF8), a type 1 INF regulator, is associated with susceptibility to systemic lupus erythematosus and multiple sclerosis. In this study, we investigated possible associations of the IRF8 polymorphisms, rs17445836 and rs2280381, with AITD in an ethnic Chinese population. Material and methods: In total, 278 patients with Graves' disease (GD) and 55 patients with Hashimoto's thyroiditis (HT), and 252 healthy controls were enrolled. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing were used for genotyping. Results: Significantly lower frequencies of the GA genotype and A allele of rs17445836 were found in the HT group than in the control group (P = 0·028, odds ratio (OR) = 4·71 and P = 0·022, OR = 4·40, respectively). Both rs17445836 and rs2280381 were associated with the presence of an antimicrosomal antibody (AmiA), and rs2280381 was also associated with the presence of an antithyroglobulin antibody (ATA) in AITD. Moreover, rs17445836 was associated with the level of AmiA in AITD. Conclusions: rs17445836 of IRF8 is a possible genetic variant associated with the development of HT. rs17445836 was associated with the production of thyroid antibody, and the GG genotype of rs17445836 was associated with a higher AmiA titre than the GA genotype.

AB - Background: The occurrence of autoimmune thyroid disease (AITD) is known to have a major adverse effect on interferon (INF)-α treatment. The genetic variant of the INF regulatory factor 8 (IRF8), a type 1 INF regulator, is associated with susceptibility to systemic lupus erythematosus and multiple sclerosis. In this study, we investigated possible associations of the IRF8 polymorphisms, rs17445836 and rs2280381, with AITD in an ethnic Chinese population. Material and methods: In total, 278 patients with Graves' disease (GD) and 55 patients with Hashimoto's thyroiditis (HT), and 252 healthy controls were enrolled. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing were used for genotyping. Results: Significantly lower frequencies of the GA genotype and A allele of rs17445836 were found in the HT group than in the control group (P = 0·028, odds ratio (OR) = 4·71 and P = 0·022, OR = 4·40, respectively). Both rs17445836 and rs2280381 were associated with the presence of an antimicrosomal antibody (AmiA), and rs2280381 was also associated with the presence of an antithyroglobulin antibody (ATA) in AITD. Moreover, rs17445836 was associated with the level of AmiA in AITD. Conclusions: rs17445836 of IRF8 is a possible genetic variant associated with the development of HT. rs17445836 was associated with the production of thyroid antibody, and the GG genotype of rs17445836 was associated with a higher AmiA titre than the GA genotype.

KW - Autoimmune thyroid disease

KW - Graves' disease

KW - Hashimoto's thyroiditis

KW - Interferon regulatory factor 8

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U2 - 10.1111/eci.12463

DO - 10.1111/eci.12463

M3 - Article

C2 - 25989711

AN - SCOPUS:84933279687

VL - 45

SP - 711

EP - 719

JO - European Journal of Clinical Investigation

JF - European Journal of Clinical Investigation

SN - 0014-2972

IS - 7

ER -