Qin Zhang1, Yun-mei Yang, Xue-ying Lv. 1. Department of Very Important People, the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China.
Abstract
OBJECTIVE: To investigate the association of Graves' disease and Graves' ophthalmopathy with the C/T transition polymorphism at position -318 of promoter and the A/G transition polymorphism at position 49 of exon 1 within cytotoxic T lymphocyte associated antigen-4 (CTLA-4) gene. METHODS: Thirty-three patients with ophthalmopathy of Graves' disease, fifty-six Graves' patients without ophthalmopathy and sixty normal subjects as control were involved in the present case-control study. The polymorphisms were evaluated by polymerase chain reaction fragment length polymorphism (PCR-RFLP). Comparisons were made of gene frequencies and allele frequencies between the groups. RESULTS: The gene frequencies of CT and allele frequencies of T were much higher in Graves' patients with ophthalmopathy than that in the group without ophthalmopathy (P=0.020, P=0.019). The gene frequencies of GG and allele frequencies of G in patients with Graves' disease were significantly increased as compared with control group (P=0.008, P=0.007). The data suggest that smokers with Graves' disease seemed to be more predisposed to ophthalmopathy than non-smokers (P=0.018). CONCLUSION: Our results suggest that an allele of T at position -318 of promoter is associated with genetic susceptibility to Graves' ophthalmopathy while an allele of G at position 49 of exon 1 is associated with genetic susceptibility to Graves' disease instead. Smoking is believed to be a major risk factor for ophthalmopathy.
OBJECTIVE: To investigate the association of Graves' disease and Graves' ophthalmopathy with the C/T transition polymorphism at position -318 of promoter and the A/G transition polymorphism at position 49 of exon 1 within cytotoxic T lymphocyte associated antigen-4 (CTLA-4) gene. METHODS: Thirty-three patients with ophthalmopathy of Graves' disease, fifty-six Graves' patients without ophthalmopathy and sixty normal subjects as control were involved in the present case-control study. The polymorphisms were evaluated by polymerase chain reaction fragment length polymorphism (PCR-RFLP). Comparisons were made of gene frequencies and allele frequencies between the groups. RESULTS: The gene frequencies of CT and allele frequencies of T were much higher in Graves' patients with ophthalmopathy than that in the group without ophthalmopathy (P=0.020, P=0.019). The gene frequencies of GG and allele frequencies of G in patients with Graves' disease were significantly increased as compared with control group (P=0.008, P=0.007). The data suggest that smokers with Graves' disease seemed to be more predisposed to ophthalmopathy than non-smokers (P=0.018). CONCLUSION: Our results suggest that an allele of T at position -318 of promoter is associated with genetic susceptibility to Graves' ophthalmopathy while an allele of G at position 49 of exon 1 is associated with genetic susceptibility to Graves' disease instead. Smoking is believed to be a major risk factor for ophthalmopathy.
Authors: J M Heward; A Allahabadia; J Carr-Smith; J Daykin; C S Cockram; C Gordon; A H Barnett; J A Franklyn; S C Gough Journal: Clin Endocrinol (Oxf) Date: 1998-09 Impact factor: 3.478
Authors: H Donner; H Rau; P G Walfish; J Braun; T Siegmund; R Finke; J Herwig; K H Usadel; K Badenhoop Journal: J Clin Endocrinol Metab Date: 1997-01 Impact factor: 5.958
Authors: L Bartalena; C Marcocci; M L Tanda; L Manetti; E Dell'Unto; M P Bartolomei; M Nardi; E Martino; A Pinchera Journal: Ann Intern Med Date: 1998-10-15 Impact factor: 25.391