Objective To investigate the association between gene polymorphism of cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) and Graves ophthalmopathy (GO) in Qinghai Han population.Methods Ninety cases of Graves disease were selected from June 2011 to February 2014 in The People's Hospital of Qinghai Province,and the 90 patients were divided into two subgroups according to GO (49 cases) and GD without GO(41 cases).Then the genotype and allele of CTLA-4 exon 1 (+ 49A/G) were detected in surum by the method of polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP).Results The distribution of CTLA-4 exon 1 (+ 49 A/G) genotype frequencies (AA,AG,GG) was not different between GO and GD without GO subgroups [4.1％ (2/49) to 7.3％ (3/41),44.9％ (22/49) to 61.0％ (25/41),51.0％ (25/49) to 31.7％ (13/41),Fisher exact probability,P =0.180 ＞ 0.05]; the distribution of CTLA-4 exon 1 (+ 49A/G) allele frequencies (A,G) was not different between GO and GD without GO subgroups [26.5％ (26/98) to 37.8％ (31/82),73.5％ (72/98) to 62.2％ (51/ 82),x2 =2.622,P＞ 0.05].Conclusion CTLA-4 gene exon 1 (+ 49A/G) may not be a candidate susceptibility gene for Qinghai Han GO.

Background: Aberrant Bcl-2 transcription is closely related with nodal diffuse large B-cell lymphoma (DLBCL), however, the relationship between Bcl-2 and primary gastrointestinal DLBCL (PGI-DLBCL) was not fully studied.Aims: To investigate the relationship between Bcl-2 gene amplification and protein expression and clinicopathological characteristics, immunophenotype and prognosis of PGI-DLBCL.Methods: Clinical data was collected from 136 PGI-DLBCL patients receiving surgical treatment, and a telephone interview was conducted for survival information.Bcl-2 gene amplification and protein expression in tumor tissue were determined by fluorescence in situ hybridization and immuno-histochemistry, respectively, and relationships between Bcl-2 and clinicopathological characteristics, immunophenotype and prognosis of PGI-DLBCL were analyzed.Results: Among 136 PGI-DLBCL patients, 33 (24.3%) showing gene amplification and 90 (66.2%) showing protein expression of Bcl-2;gene amplification was correlated with primary tumor location, Ann Arbor stage, serum lactate dehydrogenase level, B symptom and International Prognostic Index (IPI) score (P<0.05), while protein expression was correlated with primary tumor location and immunophenotype (P<0.05).5-year overall survival (OS) in patients positive for Bcl-2 gene amplification and patients with non-GCB immunophenotype and positive for Bcl-2 protein expression were inferior to those negative ones (41.5%vs.71.5%, P<0.05;54.6% vs.84.6%, P<0.05).In Bcl-2 gene amplification or protein expression positive patients, 5-year OS of CHOP chemotherapy was inferior to that of rituximab combined with CHOP chemotherapy (48.6%vs.80.3%, P<0.05;66.4%vs.83.4%, P<0.05).Conclusions: Detection of Bcl-2 gene amplification is useful for prediction of prognosis in PGI-DLBCL.Both patients with Bcl-2 gene amplification and non-GCB patients with Bcl-2 protein expression have a poorer prognosis.Rituximab may improve the prognosis in patients with Bcl-2 gene amplification or protein expression.