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J Clin Med ; 8(11)2019 Nov 13.
Artigo em Inglês | MEDLINE | ID: mdl-31766247


Leukocytes and cytokines in blood units have been known to be involved in febrile non-hemolytic transfusion reaction (FNHTR), and these adverse reactions still occur while using pre-storage leukoreduced blood products. Blood transfusion is similar to transplantation because both implant allogeneic cells or organs into the recipient. CTLA4 gene polymorphism was found to be associated with graft-versus-host disease in hematopoietic stem cell transplantation. We performed a prospective cohort study at a major tertiary care center to investigate the correlation of CTLA4 gene polymorphism and transfusion reactions. Selected CTLA4 gene SNPs were genotyped and compared between patients with transfusion-associated adverse reactions (TAARs) and healthy controls. Nineteen patients and 20 healthy subjects were enrolled. There were 4 SNPs showing differences in allele frequency between patients and controls, and the frequency of "A" allele of rs4553808, "G" allele of rs62182595, "G" allele of rs16840252, and "C" allele of rs5742909 were significantly higher in patients than in controls. Moreover, these alleles also showed significantly higher risk of TAARs (OR = 2.357, 95%CI: 1.584-3.508, p = 0.02; OR = 2.357, 95%CI: 1.584-3.508, p = 0.02; OR = 2.462, 95%CI: 1.619-3.742, p = 0.008; OR = 2.357, 95%CI: 1.584-3.508, p = 0.02; OR = 2.357, 95%CI: 1.584-3.508, p = 0.02, respectively). The present study demonstrated the correlation of CTLA4 gene polymorphism and transfusion reaction, and alleles of 4 CTLA4 SNPs with an increased risk of TAARs were found. It is important to explore the potential immune regulatory mechanism affected by SNPs of costimulatory molecules, and it could predict transfusion reaction occurrence and guide preventive actions.

J Clin Med ; 8(11)2019 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-31684013


Graves' disease (GD) is an autoimmune inflammatory disease, and Graves' ophthalmopathy (GO) occurs in 25-50% of patients with GD. Several susceptible genes were identified to be associated with GO in some genetic analysis studies, including the immune regulatory gene CTLA4. We aimed to find out the correlation of CTLA4 gene polymorphism and GO. A total of 42 participants were enrolled in this study, consisting of 22 patients with GO and 20 healthy controls. Chi-square or Fisher's exact test were used to appraise the association between Graves' ophthalmopathy and CTLA4 single nucleotide polymorphisms (SNPs). All regions of CTLA4 including promoter, exon and 3'UTR were investigated. There was no nucleotide substitution in exon 2 and exon 3 of CTLA4 region, and the allele frequencies of CTLA4 polymorphisms had no significant difference between patients with GO and controls. However, the genotype frequency of "TT" genotype in rs733618 significantly differed between patients with GO and healthy controls (OR = 0.421, 95%CI: 0.290-0.611, p = 0.043), and the "CC" and "CT" genotype in rs16840252 were nearly significantly differed in genotype frequency (p = 0.052). Haplotype analysis showed that CTLA4 Crs733618Crs16840252 might increase the risk of GO (OR = 2.375, 95%CI: 1.636-3.448, p = 0.043). In conclusion, CTLA4 Crs733618Crs16840252 was found to be a potential marker for GO, and these haplotypes would be ethnicity-specific. Clinical application of CTLA4 Crs733618Crs16840252 in predicting GO in GD patients may be beneficial.

J Formos Med Assoc ; 2019 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-31521466


BACKGROUND: ABO blood system has many subgroups. In A group, A1 phenotype and A2 phenotype are more common, and A2 is caused by deletion or substitution in A1 allele (ABO*A1.01). METHODS: Based on standard ABO serological test, the subject was identified as A2 phenotype. Direct sequencing and ABO gene cloning were performed to analyze the allele. RESULTS: The subject had one A1v allele (ABO*A1.02) and one O allele. The haplotype sequencing analysis of each allelic clone demonstrated that allele 1 was A1v (ABO*A1.02) allele with nt543 variation (543 G > C) and allele 2 was O1v allele (ABO*O.01.02) with nt261 deletion and nt220 variation. CONCLUSION: The 543 G > C nucleotide substitution of the present A1v allele (ABO*A1.02) shares the same sequence variation site with Ax allele (ABO*AW.33) (543 G > T), and both 543 G > C and 543 G > T nucleotide substitutions encode the same amino acid change of tryptophan to cysteine. Mechanism, such as allelic enhancement, has been proposed to explain this controversial phenotype-genotype relationship. But in present case, there has been no B allele to enhance the expression of Ax to that expected of A2, so there could be another novel underlying mechanism to be investigated.