Association of the occurrence and development of nodular goiter of low thyroid stimulating hormone levels with the D727E polymorphism of the thyroid stimulating hormone receptor gene
Association of the occurrence and development of nodular goiter of low thyroid stimulating hormone levels with the D727E polymorphism of the thyroid stimulating hormone receptor gene
Objective To test the distribution of thyroid stimulating hormone receptor (TSHR) gene 727 codon polymorphism (p.Asp727Glu,p.D727E) in nodular goiter (NG),and explore the occurrence and development of NG with low thyroid stimulating hormone (TSH) level. Methods A total of 17 cases of NG with low TSH level were collected as low TSH level group from January 2018 to December 2019 in the Department of Breast-Thyroid Surgery,South Campus of the First People's Hospital Affiliated to Shanghai Jiao Tong University,and 10 cases of NG with normal TSH level were randomly selected as normal group. DNA was extracted from tissue sections of all 27 patients for whole exon sequencing of TSHR gene. The correlation between TSHR gene D727E polymorphism and clinical data was statistically analyzed. Results TSHR D727E GC+GG genotype accounted for 37.0％ (10/27) of NG patients. Subgroup analysis showed that the incidence of GC+GG genotype in low TSH level group was significantly higher than that in normal group (52.9％ vs 10.0％,P=0.042). In low TSH level group,GC+GG genotype had a tendency to be older[(55.00±16.30) years vs (40.38±14.09) years,P=0.060]and smaller lesions[(2.34±1.58) cm vs (3.97±2.13) cm,P=0.101],which was not seen in normal group. In NG patients,males were more likely to be GC+GG genotype (71.4％ vs 25.0％,P=0.029). Conclusion The occurrence and development of NG with low TSH level may be associated with TSHR D727E GC+GG genotype.
维普
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