title: Correlation between thyroglobulin gene polymorphisms and autoimmune thyroid disease.
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.
authors.affiliation: Department of Biochemistry and Molecular Biology, Xinxiang Medical University, Xinxiang, Henan 453003, P.R. China.
authors.forename: Li-Qiang
authors.initials: LQ
authors.lastname: Wang
authors.affiliation: Department of Biochemistry and Molecular Biology, Xinxiang Medical University, Xinxiang, Henan 453003, P.R. China.
authors.forename: Tian-Yun
authors.initials: TY
authors.lastname: Wang
authors.affiliation: Department of Biochemistry and Molecular Biology, Xinxiang Medical University, Xinxiang, Henan 453003, P.R. China.
authors.forename: Qiu-Li
authors.initials: QL
authors.lastname: Sun
authors.affiliation: Department of Nuclear Medicine, Anyang Regional Hospital of Puyang City, Anyang, Henan 455000, P.R. China.
authors.forename: Yong-Qiang
authors.initials: YQ
authors.lastname: Qie
mesh_terms: D000328:Adult; D001483:Base Sequence; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006111:Graves Disease / Q000235:genetics*; D050031:Hashimoto Disease / Q000235:genetics*; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D013954:Thyroglobulin / Q000235:genetics*; D055815:Young Adult
chemical_list: D013954:Thyroglobulin