Correlation between thyroglobulin gene polymorphisms and autoimmune thyroid disease

Wang,Li‑Qiang; Wang,Tian‑Yun; Sun,Qiu‑Li; Qie,Yong‑Qiang

doi:10.3892/mmr.2015.3978

Correlation between thyroglobulin gene polymorphisms and autoimmune thyroid disease

Authors:
- Li‑Qiang Wang
- Tian‑Yun Wang
- Qiu‑Li Sun
- Yong‑Qiang Qie
View Affiliations

Affiliations: Department of Biochemistry and Molecular Biology, Xinxiang Medical University, Xinxiang, Henan 453003, P.R. China, Department of Nuclear Medicine, Anyang Regional Hospital of Puyang City, Anyang, Henan 455000, P.R. China
Published online on: June 22, 2015 https://doi.org/10.3892/mmr.2015.3978
Pages: 4469-4475

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

The aim of the present study was to detect thyroglobulin (Tg) gene polymorphisms in a Han Chinese population from the Northern regions of Henan province, China, and to study the correlation between Tg gene polymorphisms and autoimmune thyroid disease (AITD). A total of 270 patients with AITD and 135 healthy controls were enrolled. Genomic DNA was extracted and fluorescence polymerase chain reaction analysis was performed; high‑resolution melting curve analysis (HRMA) was used to detect single‑nucleotide polymorphisms (SNPs) in exons 10, 12 and 33 of the Tg gene. SNPs were then correlated with AITD. Han people from the Northern regions of Henan displayed four Tg exon SNPs: E10SNP24 T/G, E10SNP158 T/C, E12SNP A/G and E33SNP C/T. Several allele and genotype frequencies differed between the AITD group and the healthy control group (Tg E10SNP: Allele T, P<0.01; allele G, P<0.01; and Tg genotype GG, P<0.01; genotype TG, P<0.01. Tg E12SNP: Allele A, P<0.01; allele G, P<0.01; Tg genotype GG, P<0.01; genotype AG, P<0.01). A statistically significant difference in the frequency of selected Tg SNPs haplotypes was also present between AITD patients and healthy controls (P<0.05). There was no significant difference in haplotypes between various types of AITD (hypothyroidism, hyperthyroidism and Hashimoto's disease). The Tg SNP frequency distribution was significantly different between Han populations of the Northern regions of Henan province and the Xi'an regions of Shaanxi province. The results of the present study suggested that specific Tg gene alleles or genotypes were correlated with AITD; specific Tg SNP haplotypes were associated with hypothyroidism, hyperthyroidism and Hashimoto's disease, and the Tg SNP frequency distribution differed depending on the geographical location of the Han Chinese populations.

View Figures

View References

1	Zhang MX and Wu YQ: The Diagnosis and Treatment of Thyroid Disease. 1st. Pharmaceutical Science and Technology Publishing House; Beijing: pp. 38–42. 2006, In Chinese.
2	Tomer Y and Davies TF: Searching for the autoimmune thyroid disease susceptibility genes: From gene mapping to gene function. Endocr Rev. 24:694–717. 2003. View Article : Google Scholar : PubMed/NCBI
3	Ban Y, Greenberg DA, Concepcion E, Skrabanek L, Villanueva R and Tomer Y: Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease. Proc Natl Acad Sci USA. 100:15119–15124. 2003. View Article : Google Scholar : PubMed/NCBI
4	Ban Y, Tozaki T, Taniyama M, Tomita M and Ban Y: Association of a thyroglobulin gene polymorphism with Hashimoto's thyroiditis in the Japanese population. Clin Endocrinol (Oxf). 61:263–268. 2004. View Article : Google Scholar
5	Collins JE, Heward JM, Howson JM, Foxall H, Carr-Smith J, Franklyn JA and Gough SC: Common allelic variants of exons 10,12 and 33 of the thyroglobulin gene are not associated with autoimmune thyroid disease in the United Kingdom. J Clin Endocrinol Metab. 89:6336–6339. 2004. View Article : Google Scholar : PubMed/NCBI
6	Orita M, lwahana H, Kanazawa H, Hayashi K and Sekiya T: Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA. 86:2766–2770. 1989. View Article : Google Scholar : PubMed/NCBI
7	Lerman LS and Silverstein K: Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods Enzymol. 155:482–501. 1987. View Article : Google Scholar : PubMed/NCBI
8	Xiao W and Oefner PJ: Denaturing high-performance liquid chromatography: A review. Hum Mutat. 17:439–474. 2001. View Article : Google Scholar : PubMed/NCBI
9	Li Q, Liu Z, Monroe H and Culiat CT: Integrated platform for detection of DNA sequence variants using capillary array electrophoresis. Electrophoresis. 23:1499–1511. 2002. View Article : Google Scholar : PubMed/NCBI
10	Böcker S: Simulating multiplexed SNP discovery rates using base-specific cleavage and mass spectrometry. Bioinformatics. 23:e5–e12. 2007. View Article : Google Scholar : PubMed/NCBI
11	Liao Y, Wang X, Sha C, Xia Z, Huang Q and Li Q: Combination of fluorescence color and melting temperature as a two-dimensional label for homogeneous multiplex PCR detection. Nucleic Acids Res. 41:e762013. View Article : Google Scholar : PubMed/NCBI
12	Wang CZ, Lin J, Qian J, Shao R, Xue D, Qian W, Xiao GF, Deng ZQ, Yang J, Li Y, et al: Development of high-resolution melting analysis for the detection of the MYD88 L265P mutation. Clin Biochem. 46:385–387. 2013. View Article : Google Scholar
13	Tindall EA, Petersen DC, Woodbridge P, Schipany K and Hayes VM: Assessing high-resolution melt curve analysis for accurate detection of gene variants in complex DNA fragments. Hum Mutat. 30:876–883. 2009. View Article : Google Scholar : PubMed/NCBI
14	Pang Y, Zhou Y, Wang S, Lu J, Lu B, He G, Wang L and Zhao Y: A novel method based on high resolution melting (HRM) analysis for MIRU-VNTR genotyping of Mycobacterium tuberculosis. J Microbiol Methods. 86:291–297. 2011. View Article : Google Scholar : PubMed/NCBI
15	Vossen RH, Aten E, Roos A and den Dunnen JT: High-resolution melting analysis (HRMA): More than just sequence variant screening. Hum Mutat. 30:860–866. 2009. View Article : Google Scholar : PubMed/NCBI
16	de Juan Jiménez I, Cardeñosa EE, Suela SP, González EB, Trejo DS, Lluch OF and Gilabert PB: Advantage of high-resolution melting curve analysis over conformation-sensitive gel electrophoresis for mutational screening of BRCA1 and BRCA2 genes. Clin Chim Acta. 412:578–582. 2011. View Article : Google Scholar
17	Minucci A, Canu G, Gentile L, Zuppi C, Giardina B and Capoluongo E: Small amplicons high resolution melting analysis (SA-HRMA) allows successful genotyping of acid phosphatase 1 (ACP1) polymorphisms in the Italian population. Clin Chim Acta. 416:86–91. 2013. View Article : Google Scholar
18	Liu SM, Xu FX, Shen F and Xie Y: Rapid genotyping of APOA5-1131T>C polymorphism using high resolution melting analysis with unlabeled probes. Gene. 498:276–279. 2012. View Article : Google Scholar : PubMed/NCBI
19	Zhou L, Errigo RJ, Lu H, Poritz MA, Seipp MT and Wittwer CT: Snapback primer genotyping with saturating DNA dye and melting analysis. Clin Chem. 54:1648–1656. 2008. View Article : Google Scholar : PubMed/NCBI
20	Martín-Núñez GM, Gómez-Zumaquero JM, Soriguer F and Morcillo S: High resolution melting curve analysis of DNA samples isolated by different DNA extraction methods. Clin Chem Acta. 413:331–333. 2012. View Article : Google Scholar
21	Rajaei M, Saadat I and Saadat M: High resolution melting analysis for detection of variable number of tandem repeats polymorphism of XRCC5. Biochem Biophys Res Commun. 425:398–400. 2012. View Article : Google Scholar : PubMed/NCBI
22	Wang TY, Wang L, Zhang JH and Dong WH: A simplified universal genomic DNA extraction protocol suitable for PCR. Genet Mol Res. 10:519–525. 2011. View Article : Google Scholar : PubMed/NCBI
23	Orgiazzi J: Autoimmune thyroid diseases, an overview. Rev Prat. 64:822–824. 2014.In French. PubMed/NCBI
24	Okosieme OE, Parkes AB, Premawardhana LD, Evans C and Lazarus JH: Thyroglobulin: Current aspects of its role in autoimmune thyroid disease and thyroid cancer. Minerva Med. 94:319–330. 2003.
25	Okosieme OE, Premawardhana LD, Jayasinghe A, Kaluarachi WN, Parkes AB, Smyth PP, Lejeune PJ, Ruf J and Lazarus JH: Thyroglobulin autoantibodies in iodized subjects: relationship between epitope specificities and longitudinal antibody activity. Thyroid. 15:1067–1072. 2005. View Article : Google Scholar : PubMed/NCBI
26	Zhang JA, Maier-Haba, Yu ZY, Xiao WX and Wang Y: Association of thyroglobulin gene polymorphisms with auto-immune thyroid diseases. J Fouth Mil Med Univ. 27:17482006.In Chinese.