Changes of Th17/Treg proportion and the expressions of related cytokines in peripheral blood of patients with Hashimoto's thyroiditis / 中华地方病学杂志

Objective:To observe the ratio of helper T cells 17 (Th17)/regulatory T cells (Treg) in peripheral blood of patients with Hashimoto's thyroiditis (HT) and the expression changes of related cytokines in serum, and to explore their role in the occurrence and development of HT.Methods:Using the case-control study method, 35 HT patients examined in the General Hospital of Heilongjiang Beidahuang Group from February to November 2019 were selected as HT group, and 39 healthy people in the same period were selected as control group. Early morning fasting venous blood samples of the two groups were collected to test the levels of thyroid stimulating hormone (TSH), free thyroxine (FT 4), thyroid peroxidase antibody (TPOAb) and thyroglobulin antibody (TgAb). The expressions of serum interleukin (IL)-6, IL-17 and transforming growth factor β (TGF-β) were tested by enzyme-linked immunosorbent assay (ELISA); the number of Th17, Treg in peripheral blood were determined by flow cytometry. Results:The levels of TPOAb, TgAb and TSH in HT group [130.60 (43.37, 714.40), 368.10 (136.90, 1 103.00) U/ml, 9.05 (6.62, 15.23) μU/ml] were significantly higher than those in control group [2.66 (1.52, 4.69), 12.63 (11.43, 14.60) U/ml, 1.87 (1.36, 2.23) μU/ml, U = 6.87, 6.62, 4.85, P < 0.001], and the FT 4 level [0.76 (0.63, 1.04) ng/dl] was lower than that in control group [1.14 (1.02, 1.26) ng/dl, U = 7.39, P < 0.001]. The expressions of IL-6, IL-17 and TGF-β in HT group were higher than those in control group ( t = 2.41, 9.04, 2.44, P < 0.05). The number of Th17 and the ratio of Th17/Treg in HT group were higher than those in control group ( t = 4.20, 3.50, P < 0.05), and the number of Treg was lower than that in control group ( t = 4.45, P = 0.001). Conclusion:In HT patients, Th17 are increased, Treg decreased, Th17/Treg ratio increased, and the expressions of IL-6, IL-17 and TGF-β are increased.

TPM1 gene mutation is associated with dilated cardiomyopathy in Kazaks in Xinjiang / 中华心血管病杂志

<p><b>OBJECTIVE</b>Detect the relationship between TPM1 gene mutations and dilated cardiomyopathy (DCM) of Kazaks and Hans in Xinjiang.</p><p><b>METHODS</b>TPM1 gene was screened from 31 family members in a Kazak family with familiar DCM (FDCM), 100 patients with idiopathic DCM (IDCM, 50 Kazaks and 50 Hans), and in 100 healthy controls (50 Kazaks and 50 Hans). All the samples were the inpatients or outpatients of First Affiliated Hospital of Xinjiang University from 2012 to 2014. PCR was used to amplify 9 exons and nearby introns of the TPM1 gene. The amplified products were sequenced and compared with the standard sequence with CHROMAS software and BLAST software in Pubmed to identify mutation sites. The relationship between TPM1 gene mutations in the Kazak IDCM and healthy volunteers, between Han and Kazak IDCM and healthy volunteers was analyzed. Tropomyosin was qualitatively and quantitatively detected by ELISA in all subjects.</p><p><b>RESULTS</b>A novel variant (c.524 G > T) was identified in two FDCM patients at exon 3, this mutation caused an amino acid substitution, Gln111His. The FDCM, IDCM from Kazak and Han, healthy volunteers from Kazak and Han were founded a rs1071646 (c.644C > A, Ala151Ala). There was a significant difference in the genotype distribution (χ(2) = 13.36, P = 0.001) and allele frequency (χ(2) = 10.25, P = 0.001) between Kazaks with IDCM and Kazak controls of rs1071646, while these parameters were similar between Han IDCM patients and Han controls (all P > 0.05). The tropomyosin content of Kazak and Han IDCM patients were significantly lower than Kazak and Han controls ((1 764.2 ± 350.9) ng/L vs. (2 369.7 ± 345.9) ng/L, P = 0.001).</p><p><b>CONCLUSION</b>TPM1 gene of rs1071646 polymorphism is a possible independent risk factor for IDCM in Kazaks but not Han Chinese.</p>

Relationship Between Dilated Cardiomyopathy and Nuclear Lamina Protein A Gene Mutation in Kazak Ethnics at Xinjiang Area / 中国循环杂志

Objective: To study the relationship between dilated cardiomyopathy and nuclear lamina protein (LMNA) gene mutation in Kazak ethnics at Xinjiang area. Methods: A Kazak familial dilated cardiomyopathy (FDCM) with 31 members was studied. In addition, 160 patients with idiopathic dilated cardiomyopathy (IDCM) with 160 healthy controls were enrolled in our study, and they were divided into 4 groups: IDCM-Kazak, IDCM-Han and Control-Kazak, Control-Han.n=80 in each group. Peripheral blood DNA were extracted, 12 exons with nearby introns of LMNA gene were detected by PCR and the ampliifed products were sequenced and compared with the standard template of CHROMAS and BLAST software to identify mutation sites. LMNA mutation in both Kazak and Han IDCM patients were investigated. Results: A novel LMNA mutation (insC, CGG→CCG) at exon 7 was identiifed in a FDCM proband, it caused an amino acid substitution as Arg to Pro, and a known LMNA polymorphism loci rs4641 (c.1362C>T His454His) was fund at exon 10. In addition, LMNA polymorphism loci rs4641 genotype distribution (χ2=5.16,P=0.036) and allele frequency (χ2=4.50,P=0.034) were statistically different between IDCM-Kazak group and Control-Kazak group; while such differences were no statistic meaning between IDCM-Han group and Control-Han group. Logistic regression analysis indicated that LMNA polymorphism loci rs4641 was related to IDCM occurrence in Kazak ethnics (P=0.025, OR=0.412, 95% CI 0.189-0.896). Conclusion: LMNA polymorphism loci rs4641 was related to IDCM in Kazak ethnics at Xinjiang area, which might be susceptible loci for IDCM occurrence.