Guo-Xi Jin1, Yu-Ye Zhou2, Lei Yu1, Ya-Xin Bi1. 1. Department of Endocrinology, The First Affiliated Hospital of Bengbu Medical College Bengbu 233000, Anhui Province, China. 2. Department of Nephrology, The Second Affiliated Hospital of Bengbu Medical College Bengbu 233000, Anhui Province, China.
Abstract
OBJECTIVE: The frequency distribution of A/G genotype at position-169 in promoter of FCRL3 gene (Fc receptor-like 3) was identified in Han population of northern Anhui Province. The correlation between single nucleotide polymorphism (SNP) at this site and genetic susceptibility of Graves disease (GD) was discussed. How the genotype at this position correlated to age, gender, severity of goiter, presence or absence of exophthalmos, levels of thyrotrophin receptor antibody (TRab), thyroid peroxidase antibody (TpoAb) and anti-thyroglobulin antibody (TgAb) and thyroid function was analyzed in details. METHOD: Peripheral venous blood was collected for DNA extraction. SNP at position-169 in the promoter of FCRL3 gene was determined by using PCR-RELP among 180 GD cases and 146 normal subjects. Thyroid function tests and antibody detection were performed. RESULTS: The frequency of GG genotype of position-169 in promoter of FCRL3 gene was higher in GD group than in control group. The frequency was 28.9% and 13.8%, respectively, showing significant differences in intergroup comparison (χ(2)=6.618, P=0.046). The G allele frequency of GD group and control group was 49.4% and 40.4%, respectively, also showing significant differences between the groups (χ(2)=5.308, P=0.021). GD cases with AA, AG and GG genotypes at position-169 in FCRL3 promoter had significant differences in serum level of TRAb (χ(2)=7.319, P=0.026). However, no significant differences in gender, severity of goiter, TpoAb and TgAb level, presence or absence of exophthalmos and thyroid function (FT3, FT4, TSH) were found between the three genotypes (P>0.05). CONCLUSION: A/G SNP at position-169 in promoter of FCRL3 gene was correlated with susceptibility to GD among Han population in northern Anhui Province. G allele may contribute to the susceptibility to GD and correlate to positive TRAb result in thyroid diseases, but not to age of onset, gender, presence or absence of exophthalmos, thyroid function, TpoAb and TgAb level or severity of goiter.
OBJECTIVE: The frequency distribution of A/G genotype at position-169 in promoter of FCRL3 gene (Fc receptor-like 3) was identified in Han population of northern Anhui Province. The correlation between single nucleotide polymorphism (SNP) at this site and genetic susceptibility of Graves disease (GD) was discussed. How the genotype at this position correlated to age, gender, severity of goiter, presence or absence of exophthalmos, levels of thyrotrophin receptor antibody (TRab), thyroid peroxidase antibody (TpoAb) and anti-thyroglobulin antibody (TgAb) and thyroid function was analyzed in details. METHOD: Peripheral venous blood was collected for DNA extraction. SNP at position-169 in the promoter of FCRL3 gene was determined by using PCR-RELP among 180 GD cases and 146 normal subjects. Thyroid function tests and antibody detection were performed. RESULTS: The frequency of GG genotype of position-169 in promoter of FCRL3 gene was higher in GD group than in control group. The frequency was 28.9% and 13.8%, respectively, showing significant differences in intergroup comparison (χ(2)=6.618, P=0.046). The G allele frequency of GD group and control group was 49.4% and 40.4%, respectively, also showing significant differences between the groups (χ(2)=5.308, P=0.021). GD cases with AA, AG and GG genotypes at position-169 in FCRL3 promoter had significant differences in serum level of TRAb (χ(2)=7.319, P=0.026). However, no significant differences in gender, severity of goiter, TpoAb and TgAb level, presence or absence of exophthalmos and thyroid function (FT3, FT4, TSH) were found between the three genotypes (P>0.05). CONCLUSION: A/G SNP at position-169 in promoter of FCRL3 gene was correlated with susceptibility to GD among Han population in northern Anhui Province. G allele may contribute to the susceptibility to GD and correlate to positive TRAb result in thyroid diseases, but not to age of onset, gender, presence or absence of exophthalmos, thyroid function, TpoAb and TgAb level or severity of goiter.
Authors: Joseph G Hollowell; Norman W Staehling; W Dana Flanders; W Harry Hannon; Elaine W Gunter; Carole A Spencer; Lewis E Braverman Journal: J Clin Endocrinol Metab Date: 2002-02 Impact factor: 5.958