Association of the thyroglobulin gene polymorphism with autoimmune thyroid disease in Chinese population.
OBJECTIVE
This study was performed to identify the presence of previously reported thyroglobulin (Tg) gene single nucleotide polymorphisms (SNPs) in Han Chinese Asians, and to investigate their potential relation to autoimmune thyroid disease (AITD).


METHODS
Polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP) in 228 Chinese patients with AITD (146 with Graves' disease and 82 with Hashimoto's thyroiditis) and 131 healthy Chinese controls.


RESULTS
(1) The occurrence of four common Tg gene SNPs (E10SNP24 T/G and E10SNP158 T/C in exon 10, E12SNP A/G in exon 12, and E33SNP C/T in exon 33) was confirmed in this Chinese population. No differences in allele and genotype frequencies were found between AITD patients and control subjects, or between male and female individuals in any group. Neither were differences in allele frequencies observed when Graves' disease (GD) or Hashimoto's thyroiditis (HT) patients were analyzed separately. (2) Haplotype analysis of these four SNPs revealed that the G-C-A-C haplotype was significantly associated with HT (P < 0.01, OR = 3.06, OR 95% CI [1.326-7.089]) and with serum anti-Tg antibody (Tg-Ab) positive AITD patients (P = 0.028, OR = 3.34).


CONCLUSIONS
Our study confirms the existence of four SNPs among Han Chinese. In addition, the association of one SNP haplotype with HT suggests that Tg may be an AITD susceptibility gene.
Maierhaba
Mai
M
Department of Endocrinology, The First Affiliated Hospital of Medical School, Xi'an Jiaotong University, No. 1 Jiankang Road, Xi'an, Shaanxi Province 710061, China. marrerlin@sina.com
Zhang
Jin-An
JA
Yu
Zhi-Yun
ZY
Wang
Yu
Y
Xiao
Wan-Xia
WX
Quan
Ying
Y
Dong
Bao-Ning
BN
D000328:Adult; D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D006111:Graves Disease / Q000208:ethnology / Q000235:genetics; D006239:Haplotypes; D050031:Hashimoto Disease / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D013954:Thyroglobulin / Q000235:genetics*; D055815:Young Adult
D013954:Thyroglobulin