复发性口腔溃疡免疫细胞的效应

复发性口腔溃疡是口腔科常见多发性疾病,与多种因素导致的自体免疫失衡有关。表现为免疫细胞活性和数量上的改变,特别是高表达或不正常表达CD4+、 CD8+细胞以及 CD4+/ CD8+的改变,并伴有多种细胞因子的变化,包括 IL-2 、IL-6、IL-8﹑IL-10、INF-γ 和TNF-α等多种细胞因子的异常表达以及相关细胞因子的基因突变导致的基因多态性。T淋巴细胞介导的细胞免疫在复发性口腔溃疡疾病的发生、发展过程中起重要作用。     

Ethnic differences in genetic polymorphism associated with irritable bowel syndrome

Genetic polymorphism is associated with irritable bowel syndrome(IBS) in terms of susceptibility and clinical manifestations. Previous studies have shown that genetic polymorphism might play a key role in the onset and progression of IBS by modulating components of its pathogenesis such as the gut-brain axis,gastrointestinal motility, inflammatory activity, and immune status. Although underlying pathophysiological mechanisms have not been fully clarified, the potential ethnic differences that are present in worldwide genetic studies of IBS deserve attention. This review surveyed numerous studies focusing on IBSassociated single nucleotide polymorphisms, and investigated the ethnic disparities revealed by them. The results demonstrate the need for more attention on ethnic factors in IBS-related genetic studies. Taking ethnic backgrounds into accounts and placing emphasis on disparities potentially ascribed to ethnicity could help lay a solid and generalized foundation for transcultural, multi-ethnic,or secondary analyses in IBS, for example, a meta-analysis. Broader genetic studies considering ethnic factors are greatly needed to obtain a better understanding of the pathophysiological mechanisms of IBS and to improve the prevention, intervention, and treatment of this disease.     

Interleukin 1 alpha (IL1A) polymorphisms and risk of endometriosis in Iranian population: a case-control study

Abstract

Endometriosis is one of the most common gynecological diseases and a major cause of pain and infertility. It is influenced by genetic, epigenetic, and environmental factors. Recently, genome-wide association studies have revealed a strong association between IL1A single nucleotide polymorphisms (SNPs) and increased risk of endometriosis in Japanese women. The aim of the present study was to evaluate the association of three IL1A SNPs, rs17561, rs1304037, and rs2856836 with the risk of endometriosis in Iranian population. Totally, 105 women with diagnosis of endometriosis and 102 healthy women as control group were included. Three SNPs of the IL1A, rs17561?G/T, rs1304037 A/G, and rs2856836 T/C, were genotyped by PCR and RFLP. The rs2856836?TC genotype was significantly higher (p?=?.002; OR?=?3.1, 95% CI: 1.5–6.5) in the patients (28.1%) than the control group (12.7%). The rs2856836?CC genotype was significantly higher (p?=?.047; OR?=?2.3, 95% CI: 1.0–5.3) in the patients (17.5%) than the control group (10.8%). The rs2856836 C allele was significantly higher (p?=?.001; OR?=?2.2, 95% CI: 1.4–3.6) in the patients (31.6%) than the control group (17.2%). The IL1A rs2856836 T/C SNP was associated with susceptibility to endometriosis and the rs2856836 C allele may increase the risk of endometriosis in Iranian women.     

Vesicular nucleotide transporter-immunoreactive type I cells associated with P2X3-immunoreactive nerve endings in the rat carotid body

ATP is the major excitatory transmitter from chemoreceptor type I cells to sensory nerve endings in the carotid body, and has been suggested to be released by exocytosis from these cells. We investigated the mRNA expression and immunohistochemical localization of vesicular nucleotide transporter (VNUT) in the rat carotid body. RT-PCR detected mRNA expression of VNUT in extracts of the tissue. Immunoreactivity for VNUT was localized in a part of type I cells immunoreactive for synaptophysin (SYN), but not in glial-like type II cells immunoreactive for S100 and S100B. Among SYN-immunoreactive type I cells, VNUT immunoreactivity was selectively localized in the sub-population of tyrosine hydroxylase (TH)-immunorective type I cells associated with nerve endings immunoreactive for the P2X3 purinoceptor; however, it was not detected in the sub-population of type I cells immunoreactive for dopamine beta-hydroxylase. Multi-immunolabeling for VNUT, P2X3, and Bassoon revealed that Bassoon-immunoreactive products were localized in type I cells with VNUT immunoreactivity, and accumulated on the contact side of P2X3-immunoreactive nerve endings. These results revealed the selective localization of VNUT in the subpopulation of TH-immunoreactive type I cells attached to sensory nerve endings and suggested that these cells release ATP by exocytosis for chemosensory transmission in the carotid body.     

泸州汉族人群MTHFR基因多态性分布及育龄妇女该基因多态性与复发性流产相关性的研究

目的了解泸州市亚甲基四氢叶酸还原酶(MTHFR)基因多态性分布情况以及该单核苷酸多态性与复发性流产的相关性。方法选取2016-2018年在西南医科大学附属医院进行MTHFR基因检测的泸州汉族人群691例为研究对象,利用PCR-微阵列基因芯片法检测其C677T单核苷酸多态性,统计得出3种基因型的频率以及等位基因频率,并与全国其他地区已报道的多态性分布特征进行比较。结果泸州汉族人群CC、CT与TT基因型频率分别为39.2%、46.7%、14.0%,T等位基因频率为37.4%。其中女性T等位基因频率为38.1%,基因分布与纬度相近地区(N25°~31°)差异无统计学意义(P>0.05),与南方的海南、惠州及北方的西安、银川、赤峰、烟台人群差异有统计学意义(P<0.05)。在泸州育龄妇女中,复发性流产与MTHFR C677T基因多态性暂未发现存在直接关联。结论泸州地区汉族人群的MTHFR基因分布具有西南地区的分布特征,T等位基因频率整体呈现出随着纬度升高而升高的趋势。     

一例外周血染色体核型为单纯型18三体但智力正常女性的遗传学研究

目的分析1例外周血染色体核型为单纯型18三体但智力正常女性的遗传学机制。方法用G显带染色体核型分析、荧光原位杂交(fluorescence in situ hybridization,FISH)和单核苷酸多态性微阵列芯片(single nucleotide polymorphism microarray,SNP-array)技术对患者的外周血和颊粘膜细胞进行检测。结果患者的外周血染色体核型、SNP-array以及FISH检测结果均提示为47,XX,+18;颊粘膜间期细胞FISH检测结果提示为45,X合并低比例的18三体和18单体。结论胚层染色体嵌合的个体临床表现复杂,遗传学异常所造成的影响取决于相关胚层分化所形成的器官及功能。