Polymorphism of the oestrogen receptor beta gene (ESR2) is associated with susceptibility to Graves' disease.

摘要: Summary Objective  To investigate whether a polymorphism in the ESR2 gene (rs4986938, previously associated with endometriosis, ovulatory dysfunction and premature onset of coronary heart disease) increases risk Graves’ disease (GD). Subjects design  A cohort 375 GD patients (300 females 75 males) 1001 individuals representative background population Poland (502 males 499 females) were genotyped for rs4986938 using allele-specific polymerase chain reaction (PCR). Results  We found an increased frequency allele among vs. controls (38·0%vs. 32·7%, OR = 1·26, P = 0·009) that was caused by co-dominant (OR = 1·25, P = 0·01, Pfor model fit = 0·127) or recessive (OR = 1·67, P = 0·003, Pfor model fit = 0·554) effect. The association both sexes (OR = 1·21, P = 0·046 OR = 1·53, P = 0·029, respectively, models females, OR = 1·44, P = 0·034 OR = 2·29, two more pronounced DRB1*03-negative (OR = 1·63, P = 0·0002) than DRB1*03-positive (OR = 1·04, P = 0·822). No other statistically significant associations between genotype GD subsets (age onset, smoking, clinically evident ophthalmopathy, family history GD, PTPN22 CTLA4 (CT60) genotypes analysed). Conclusions  In Polish is strength comparable to polymorphisms CT60 loci (OR ~ 1·7). may be particularly strong individuals.