Background: Hepatitis C virus has infected 130 to 150 million individuals globally.Atypical chemokine receptor 1 has become a focus of research because of its diverse roles in different diseases.However, little is known regarding the association of atypical chemokine receptor 1 polymorphism with susceptibility to hepatitis C virus.Aims: To determine the association of an atypical chemokine receptor 1 polymorphism (rs12075) with hepatitis C virus susceptibility.Study Design: Case-control study.Methods: We collected blood samples from 231 patients infected with hepatitis C virus and 239 blood donors as control subjects.Genotyping of atypical chemokine receptor 1 was performed using a 5ˊ-nuclease assay with TaqMan-minor groove binding probes.Comparisons between hepatitis C virus-infected patients and control subjects were assessed using Fisher's exact test. Results:The genotype frequencies of FY*A/FY*A, FY*A/FY*B and FY*B/FY*B were 86.1%, 13.9% and 0% in the patient group, and 86.2%, 13.4% and 0.4% in the control group, respectively.The difference in atypical chemokine receptor 1 genotype frequencies between hepatitis C virus-infected patients and control group was not significant (p=1.00,OR=1.004, 95% CI=0.594-1.695).FY*A and FY*B allele frequencies were 93.1% and 6.9% in the patient group, and 92.9% and 7.1% in the control group, respectively.The difference in atypical chemokine receptor 1 allele frequencies between hepatitis C virus-infected patients and the control group was not significant (p=1.00,OR=0.972, 95% CI=0.589-1.603).
Neuroferritinopathy is a rare autosomal dominant movement disorder caused by mutations of the FTL gene.(1) It is clinically characterized by adult-onset progressive extrapyramidal syndrome, including chorea, dystonia, and parkinsonism.(2) Brain MRI demonstrates the deposition of iron and ferritin in the basal ganglia.(3) To date, several Caucasian families and 2 Japanese families have been reported worldwide.(2) We present a Chinese neuroferritinopathy pedigree with 5 patients and the FTL mutation.
Summary Aims To investigate the potential effect of six previously reported candidate single nucleotide polymorphisms on age at onset ( AAO ) among Chinese patients with Machado–Joseph disease ( MJD ). Methods Three hundred and twenty‐four unrelated molecular‐confirmed MJD patients were recruited between January 2006 and December 2014. The screening of candidate polymorphisms was first performed in 173 subjects using the SN aPshot ® Multiplex System. The mitochondrial NADH dehydrogenase subunit 3 ( MT ‐ ND 3 ) polymorphism 10398A>G (rs2853826) was further verified with Sanger sequencing in additional 151 patients. Results An inverse correlation was found between expanded CAG repeat length and AAO . The expanded CAG repeat length can explain 63% of AAO variance. The 10398A polymorphism was significantly associated with a 3‐year earlier AAO in male patients with MJD ( P = 0.001). Stepwise multiple regressions revealed that the 10398A polymorphism could account for nearly 2% of AAO variance in male patients. Conclusion Six candidate SNP s have been screened in Chinese patients with MJD . A remarkable earlier AAO was noted in male Chinese MJD patients with MT ‐ ND 3 gene 10398A polymorphism.
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