Associations of secreted phosphoprotein 1 and B lymphocyte kinase gene polymorphisms with autoimmune thyroid disease

Chao Wen Cheng, Shun Fa Yang, Yuan Hung Wang, Wen Fang Fang, Ying Chin Lin, Kam Tsun Tang, Jiunn Diann Lin

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Abstract

Background: Dysregulation of the type 1 interferon (IFN)-related signalling pathway predisposes one to autoimmune diseases. Possible associations of single-nucleotide polymorphisms (SNPs) of secreted phosphoprotein 1 (SPP1) and B lymphocyte kinase (BLK) of the type 1 IFN-related signalling pathway with autoimmune thyroid disease (AITD) in an ethnic Chinese (ie Taiwanese) population were tested. Methods: Totally, 83 Hashimoto's thyroiditis (HT) patients, 319 Graves’ disease (GD) patients and 369 controls were enrolled. Genotypes of the two SNPs (rs1126772 and rs1126616) of SPP1 and two SNPs (rs13277113 and rs2736340) of BLK were determined. Results: Our results showed reduced percentages of the G allele of rs13277113 of BLK in GD (P = 0.037, odds ratio [OR] = 0.78, 95% confidence interval [CI] = 0.62-0.99) and HT (P = 0.002, OR = 0.54, 95% CI = 0.36-0.81), compared to the controls. At the same time, lower frequencies of the C allele of rs2736340 of BLK in GD (P = 0.025, OR = 0.76, 95% CI = 0.60-0.97) and HT (P = 0.003, OR = 0.53, 95% CI = 0.35-0.81) than the controls were also observed. There were significantly higher AT haplotype frequencies of rs1327713 and rs2736340 in GD and HT patients than in the controls (P = 0.025, OR = 1.31, 95% CI = 1.03-1.67, and P = 0.003, OR = 1.89, 95% CI = 1.24-2.87, respectively). Moreover, the anti-microsomal antibody titre was associated with rs2736340. Conclusions: Genetic variants of rs13277113 and rs2736340 of BLK were associated with susceptibility to GD, HT and AITD in an ethnic Chinese population. Our results suggest the BLK may participate in the pathogenesis of GD, HT and AITD.

Original languageEnglish
Article numbere13065
JournalEuropean Journal of Clinical Investigation
Volume49
Issue number3
DOIs
Publication statusPublished - Mar 1 2019

Fingerprint

Hashimoto Disease
Osteopontin
Lymphocytes
Graves Disease
Thyroid Diseases
Polymorphism
Autoimmune Diseases
B-Lymphocytes
Phosphotransferases
Genes
Odds Ratio
Confidence Intervals
Single Nucleotide Polymorphism
Interferon Type I
Nucleotides
Gene Frequency
Haplotypes
Population
Anti-Idiotypic Antibodies
Alleles

Keywords

  • autoimmune thyroid disease
  • B lymphocyte kinase
  • Graves' disease
  • Hashimoto’s thyroiditis
  • secreted phosphoprotein 1

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry

Cite this

@article{b8db8a469459482f9ff0530ef00f48e3,
title = "Associations of secreted phosphoprotein 1 and B lymphocyte kinase gene polymorphisms with autoimmune thyroid disease",
abstract = "Background: Dysregulation of the type 1 interferon (IFN)-related signalling pathway predisposes one to autoimmune diseases. Possible associations of single-nucleotide polymorphisms (SNPs) of secreted phosphoprotein 1 (SPP1) and B lymphocyte kinase (BLK) of the type 1 IFN-related signalling pathway with autoimmune thyroid disease (AITD) in an ethnic Chinese (ie Taiwanese) population were tested. Methods: Totally, 83 Hashimoto's thyroiditis (HT) patients, 319 Graves’ disease (GD) patients and 369 controls were enrolled. Genotypes of the two SNPs (rs1126772 and rs1126616) of SPP1 and two SNPs (rs13277113 and rs2736340) of BLK were determined. Results: Our results showed reduced percentages of the G allele of rs13277113 of BLK in GD (P = 0.037, odds ratio [OR] = 0.78, 95{\%} confidence interval [CI] = 0.62-0.99) and HT (P = 0.002, OR = 0.54, 95{\%} CI = 0.36-0.81), compared to the controls. At the same time, lower frequencies of the C allele of rs2736340 of BLK in GD (P = 0.025, OR = 0.76, 95{\%} CI = 0.60-0.97) and HT (P = 0.003, OR = 0.53, 95{\%} CI = 0.35-0.81) than the controls were also observed. There were significantly higher AT haplotype frequencies of rs1327713 and rs2736340 in GD and HT patients than in the controls (P = 0.025, OR = 1.31, 95{\%} CI = 1.03-1.67, and P = 0.003, OR = 1.89, 95{\%} CI = 1.24-2.87, respectively). Moreover, the anti-microsomal antibody titre was associated with rs2736340. Conclusions: Genetic variants of rs13277113 and rs2736340 of BLK were associated with susceptibility to GD, HT and AITD in an ethnic Chinese population. Our results suggest the BLK may participate in the pathogenesis of GD, HT and AITD.",
keywords = "autoimmune thyroid disease, B lymphocyte kinase, Graves' disease, Hashimoto’s thyroiditis, secreted phosphoprotein 1",
author = "Cheng, {Chao Wen} and Yang, {Shun Fa} and Wang, {Yuan Hung} and Fang, {Wen Fang} and Lin, {Ying Chin} and Tang, {Kam Tsun} and Lin, {Jiunn Diann}",
year = "2019",
month = "3",
day = "1",
doi = "10.1111/eci.13065",
language = "English",
volume = "49",
journal = "European Journal of Clinical Investigation",
issn = "0014-2972",
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TY - JOUR

T1 - Associations of secreted phosphoprotein 1 and B lymphocyte kinase gene polymorphisms with autoimmune thyroid disease

AU - Cheng, Chao Wen

AU - Yang, Shun Fa

AU - Wang, Yuan Hung

AU - Fang, Wen Fang

AU - Lin, Ying Chin

AU - Tang, Kam Tsun

AU - Lin, Jiunn Diann

PY - 2019/3/1

Y1 - 2019/3/1

N2 - Background: Dysregulation of the type 1 interferon (IFN)-related signalling pathway predisposes one to autoimmune diseases. Possible associations of single-nucleotide polymorphisms (SNPs) of secreted phosphoprotein 1 (SPP1) and B lymphocyte kinase (BLK) of the type 1 IFN-related signalling pathway with autoimmune thyroid disease (AITD) in an ethnic Chinese (ie Taiwanese) population were tested. Methods: Totally, 83 Hashimoto's thyroiditis (HT) patients, 319 Graves’ disease (GD) patients and 369 controls were enrolled. Genotypes of the two SNPs (rs1126772 and rs1126616) of SPP1 and two SNPs (rs13277113 and rs2736340) of BLK were determined. Results: Our results showed reduced percentages of the G allele of rs13277113 of BLK in GD (P = 0.037, odds ratio [OR] = 0.78, 95% confidence interval [CI] = 0.62-0.99) and HT (P = 0.002, OR = 0.54, 95% CI = 0.36-0.81), compared to the controls. At the same time, lower frequencies of the C allele of rs2736340 of BLK in GD (P = 0.025, OR = 0.76, 95% CI = 0.60-0.97) and HT (P = 0.003, OR = 0.53, 95% CI = 0.35-0.81) than the controls were also observed. There were significantly higher AT haplotype frequencies of rs1327713 and rs2736340 in GD and HT patients than in the controls (P = 0.025, OR = 1.31, 95% CI = 1.03-1.67, and P = 0.003, OR = 1.89, 95% CI = 1.24-2.87, respectively). Moreover, the anti-microsomal antibody titre was associated with rs2736340. Conclusions: Genetic variants of rs13277113 and rs2736340 of BLK were associated with susceptibility to GD, HT and AITD in an ethnic Chinese population. Our results suggest the BLK may participate in the pathogenesis of GD, HT and AITD.

AB - Background: Dysregulation of the type 1 interferon (IFN)-related signalling pathway predisposes one to autoimmune diseases. Possible associations of single-nucleotide polymorphisms (SNPs) of secreted phosphoprotein 1 (SPP1) and B lymphocyte kinase (BLK) of the type 1 IFN-related signalling pathway with autoimmune thyroid disease (AITD) in an ethnic Chinese (ie Taiwanese) population were tested. Methods: Totally, 83 Hashimoto's thyroiditis (HT) patients, 319 Graves’ disease (GD) patients and 369 controls were enrolled. Genotypes of the two SNPs (rs1126772 and rs1126616) of SPP1 and two SNPs (rs13277113 and rs2736340) of BLK were determined. Results: Our results showed reduced percentages of the G allele of rs13277113 of BLK in GD (P = 0.037, odds ratio [OR] = 0.78, 95% confidence interval [CI] = 0.62-0.99) and HT (P = 0.002, OR = 0.54, 95% CI = 0.36-0.81), compared to the controls. At the same time, lower frequencies of the C allele of rs2736340 of BLK in GD (P = 0.025, OR = 0.76, 95% CI = 0.60-0.97) and HT (P = 0.003, OR = 0.53, 95% CI = 0.35-0.81) than the controls were also observed. There were significantly higher AT haplotype frequencies of rs1327713 and rs2736340 in GD and HT patients than in the controls (P = 0.025, OR = 1.31, 95% CI = 1.03-1.67, and P = 0.003, OR = 1.89, 95% CI = 1.24-2.87, respectively). Moreover, the anti-microsomal antibody titre was associated with rs2736340. Conclusions: Genetic variants of rs13277113 and rs2736340 of BLK were associated with susceptibility to GD, HT and AITD in an ethnic Chinese population. Our results suggest the BLK may participate in the pathogenesis of GD, HT and AITD.

KW - autoimmune thyroid disease

KW - B lymphocyte kinase

KW - Graves' disease

KW - Hashimoto’s thyroiditis

KW - secreted phosphoprotein 1

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U2 - 10.1111/eci.13065

DO - 10.1111/eci.13065

M3 - Article

VL - 49

JO - European Journal of Clinical Investigation

JF - European Journal of Clinical Investigation

SN - 0014-2972

IS - 3

M1 - e13065

ER -