Genotype

基因型
  • 文章类型: Journal Article
    Wild rodents serve as reservoirs for Cryptosporidium and are overpopulated globally. However, genetic data regarding Cryptosporidium in these animals from China are limited. Here, we have determined the prevalence and genetic characteristics of Cryptosporidium among 370 wild rodents captured from three distinct locations in the southern region of Zhejiang Province, China. Fresh feces were collected from the rectum of each rodent, and DNA was extracted from them. The rodent species was identified by PCR amplifying the vertebrate cytochrome b gene. Cryptosporidium was detected by PCR amplification and amplicon sequencing the small subunit of ribosomal RNA gene. Positive samples of C. viatorum and C. parvum were further subtyped by analyzing the 60-kDa glycoprotein gene. A positive Cryptosporidium result was found in 7% (26/370) of samples, involving five rodent species: Apodemus agrarius (36), Niviventer niviventer (75), Rattus losea (18), R. norvegicus (155), and R. tanezumi (86). Their respective Cryptosporidium positive rates were 8.3%, 5.3%, 11.1%, 7.1%, and 7.0%. Sequence analysis confirmed the presence of three Cryptosporidium species: C. parvum (4), C. viatorum (1), and C. muris (1), and two genotypes: Cryptosporidium rat genotype IV (16) and C. mortiferum-like (4). Additionally, two subtypes of C. parvum (IIdA15G1 and IIpA19) and one subtype of C. viatorum (XVdA3) were detected. These results demonstrate that various wild rodent species in Zhejiang were concurrently infected with rodent-adapted and zoonotic species/genotypes of Cryptosporidium, indicating that these rodents can play a role in maintaining and dispersing this parasite into the environment and other hosts, including humans.
    UNASSIGNED: Transmission interspécifique de Cryptosporidium chez les rongeurs sauvages de la région sud de la province chinoise du Zhejiang et son impact possible sur la santé publique.
    UNASSIGNED: Les rongeurs sauvages servent de réservoirs à Cryptosporidium et ont des grandes populations à l’échelle mondiale. Cependant, les données génétiques concernant Cryptosporidium chez ces animaux en Chine sont limitées. Ici, nous avons déterminé la prévalence et les caractéristiques génétiques de Cryptosporidium parmi 370 rongeurs sauvages capturés dans trois endroits distincts de la région sud de la province du Zhejiang, en Chine. Des excréments frais ont été collectés dans le rectum de chaque rongeur et l’ADN en a été extrait. L’espèce de rongeur a été identifiée par amplification par PCR du gène du cytochrome b des vertébrés. Cryptosporidium a été détecté par amplification PCR et séquençage d’amplicons de la petite sous-unité du gène de l’ARN ribosomal. Les échantillons positifs de C. viatorum et C. parvum ont ensuite été sous-typés en analysant le gène de la glycoprotéine de 60 kDa. Un résultat positif pour Cryptosporidium a été trouvé dans 7 % (26/370) des échantillons, impliquant cinq espèces de rongeurs : Apodemus agrarius (36), Niviventer niviventer (75), Rattus losea (18), R. norvegicus (155) et R. tanezumi (86). Leurs taux respectifs de positivité pour Cryptosporidium étaient de 8,3 %, 5,3 %, 11,1 %, 7,1 % et 7,0 %. L’analyse des séquences a confirmé la présence de trois espèces de Cryptosporidium : C. parvum (4), C. viatorum (1) et C. muris (1), et de deux génotypes : Cryptosporidium génotype IV de rat (16) et C. mortiferum-like (4). De plus, deux sous-types de C. parvum (IIdA15G1 et IIpA19) et un sous-type de C. viatorum (XVdA3) ont été détectés. Ces résultats démontrent que diverses espèces de rongeurs sauvages du Zhejiang sont simultanément infectées par des espèces/génotypes de Cryptosporidium zoonotiques et adaptés aux rongeurs, ce qui indique que ces rongeurs peuvent jouer un rôle dans le maintien et la dispersion de ce parasite dans l’environnement et d’autres hôtes, y compris les humains.
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  • 文章类型: Journal Article
    戊型肝炎病毒(HEV)是导致急性病毒性肝炎的流行病原体,HEV基因型3和4感染引起人畜共患感染。目前,人类和猪对HEV基因型4的核苷酸相似性分析是有限的.在这项研究中,收集猪农和猪的HEV感染患者的粪便样本,以获得接近全长的HEV基因组,构建了系统发育树进行基因分型,并对HEV序列进行了相似性分析。结果显示,在患者和6头猪的粪便样品中检测到HEV-RNA(6/30,20.0%)。患者和猪的HEV亚型均为4b。此外,相似性分析表明,在核苷酸水平上,患者和猪之间的范围为99.875%-99.944%。来自猪的氨基酸序列(ORF1-3)的四个分离株与患者100%相同。从该地区其他患者中分离出的另外9个HEV序列的系统发育树和相似性分析表明,养猪户的HEV序列与他农场的猪的关系最密切,而不是该地区的其他感染源。这项研究提供了HEV4b亚型可以在核苷酸水平上从猪传播到人的间接证据。需要进一步的研究来探索不同HEV亚型的特征。
    Hepatitis E virus (HEV) is a prevalent pathogen responsible for acute viral hepatitis, HEV genotypes 3 and 4 infections causing zoonotic infections. Currently, the nucleotide similarity analysis between humans and pigs for HEV genotype 4 is limited. In this study, stool samples from an HEV-infected patient who is a pig farmer and from pigs were collected to obtain the near full-length genome of HEV, phylogenetic trees were constructed for genotyping, and similarity of HEV sequences was analyzed. The results showed that HEV-RNA was detected in the stool samples from the patient and six pigs (6/30, 20.0%). Both HEV subtype in the patient and pigs was 4b. Additionally, similarity analysis showed that the range was 99.875%-99.944% between the patient and pigs at the nucleotide level. Four isolates of amino acid sequences (ORFs 1-3) from pigs were 100% identical to the patient. Phylogenetic tree and similarity analysis of an additional nine HEV sequences isolated from other patients in this region showed that the HEV sequence from the pig farmer had the closest relationship with the pigs from his farm rather than other sources of infection in this region. This study provides indirect evidences for HEV subtype 4b can be transmitted from pigs to humans at the nucleotide level. Further research is needed to explore the characteristics of different HEV subtypes.
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  • 文章类型: Journal Article
    供体和受体人巨细胞病毒(HCMV)血清阳性(D+R+)肺移植受体(LTRs)通常含有多种HCMV菌株,可能是由于传播的供体(D)菌株和再激活的受体(R)菌株。迄今为止,形成移植后(Tx后)菌株群体的每个可能来源的程度和及时发生率未知.这里,我们破译了血液中Tx后HCMV菌株组成的D和R起源,支气管肺泡灌洗(BAL),和CD45+BAL细胞亚群。我们从移植前获得的四个DRLTR中研究了D和/或R福尔马林固定的石蜡包埋块或新鲜的D肺组织。HCMV菌株的特征在于短扩增子深度测序。在两个LTR中,我们显示移植后的肺在移植后的前6个月内被R菌株重新播种,可能是浸润CD14+CD163+/-肺泡巨噬细胞。在三个LTR中,我们证明了在移植后>1年的时间内,D菌株在移植肺中的快速播散和持续存在。广泛的宿主间多样性与传播后的宿主内基因型序列稳定性形成对比,在随访期间和跨隔室。在D+R+LTR中,两者的HCMV菌株,D和R起源可以首先出现,并在随后的感染发作中长期占主导地位,表明这两种来源的复制,尽管预先存在免疫力。
    Donor and recipient human cytomegalovirus (HCMV) seropositive (D+R+) lung transplant recipients (LTRs) often harbor multiple strains of HCMV, likely due to transmitted donor (D) strains and reactivated recipient (R) strains. To date, the extent and timely occurrence of each likely source in shaping the post-transplantation (post-Tx) strain population is unknown. Here, we deciphered the D and R origin of the post-Tx HCMV strain composition in blood, bronchoalveolar lavage (BAL), and CD45+ BAL cell subsets. We investigated either D and/or R formalin-fixed paraffin-embedded blocks or fresh D lung tissue from four D+R+ LTRs obtained before transplantation. HCMV strains were characterized by short amplicon deep sequencing. In two LTRs, we show that the transplanted lung is reseeded by R strains within the first 6 months after transplantation, likely by infiltrating CD14+ CD163+/- alveolar macrophages. In three LTRs, we demonstrate both rapid D-strain dissemination and persistence in the transplanted lung for >1 year post-Tx. Broad inter-host diversity contrasts with intra-host genotype sequence stability upon transmission, during follow-up and across compartments. In D+R+ LTRs, HCMV strains of both, D and R origin can emerge first and dominate long-term in subsequent episodes of infection, indicating replication of both sources despite pre-existing immunity.
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  • 文章类型: Journal Article
    传染性海绵状脑病(TSEs)是一种致命的神经退行性疾病,包括人类的克雅氏病,绵羊和山羊的瘙痒病,牛海绵状脑病(BSE),和其他几个以及最近描述的骆驼朊病毒病(CPD)。在阿尔及利亚Ouargla地区的死前屠宰场检查中,最初记录了CPD的3.1%的骆驼。在确认CPD的三个人中,对两个朊病毒蛋白基因(PRNP)的外显子3进行了测序,并且与先前报道的骆驼目的序列相同。鉴于其他TSE,比如疯牛病,已知能够跨物种传播,并且有家庭消费来自骆驼的肉和牛奶,确保骆驼和人类健康的法规应成为出口国的“一个健康”优先事项。尽管CPD的种间传播性目前尚不清楚,骆驼PRNP的基因型表征可用于预测对CPD的易感性和潜在易感性。在这里,对来自先前遗传(线粒体DNA和微卫星)和形态学研究的八种单峰骆驼进行了PRNP基因分型,并与CPD阳性阿尔及利亚骆驼的基因型进行了比较。PRNP的序列数据表明,埃塞俄比亚骆驼与阿尔及利亚的CPD阳性骆驼具有100%的序列同一性。此外,与Cetartiodactyla和Perissodactyla的其他成员相比,骆驼PRNP基因型是独特的,并提供了对Cetartiodactyla和Perissodactyla家族的深入系统发育分析,该分析用于推断PRNP基因的进化史。
    Transmissible spongiform encephalopathies (TSEs) are a fatal neurogenerative disease that include Creutzfeldt-Jakob disease in humans, scrapie in sheep and goats, bovine spongiform encephalopathy (BSE), and several others as well as the recently described camel prion disease (CPD). CPD originally was documented in 3.1% of camels examined during an antemortem slaughterhouse inspection in the Ouargla region of Algeria. Of three individuals confirmed for CPD, two were sequenced for the exon 3 of the prion protein gene (PRNP) and were identical to sequences previously reported for Camelus dromedarius. Given that other TSEs, such as BSE, are known to be capable of cross-species transmission and that there is household consumption of meat and milk from Camelus, regulations to ensure camel and human health should be a One Health priority in exporting countries. Although the interspecies transmissibility of CPD currently is unknown, genotypic characterization of Camelus PRNP may be used for predictability of predisposition and potential susceptibility to CPD. Herein, eight breeds of dromedary camels from a previous genetic (mitochondrial DNA and microsatellites) and morphological study were genotyped for PRNP and compared to genotypes from CPD-positive Algerian camels. Sequence data from PRNP indicated that Ethiopian camels possessed 100% sequence identity to CPD-positive camels from Algeria. In addition, the camel PRNP genotype is unique compared to other members of the Orders Cetartiodactyla and Perissodactyla and provides an in-depth phylogenetic analysis of families within Cetartiodactyla and Perissodactyla that was used to infer the evolutionary history of the PRNP gene.
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  • 文章类型: Journal Article
    叶倾角(LIA)和分ill影响冬小麦(TriticumaestivumL.)种群冠层结构。了解它们对用水(WU)参数和产量的影响可以通过人口控制来指导节水策略。在这项研究中,选择了六个近等基因系(NIL)及其亲本作为材料。这些特殊材料的特点是在当前的播种密度下改变分till,相似的遗传背景,and,特别是,平均旗叶LIA的梯度。调查的重点是拔节到早期灌浆阶段,小麦作物的需水高峰期。人口尺度蒸腾(PT)和土壤表面的蒸发(E)通过微量蒸腾仪与总蒸散(ET)分开。结果显示PT下降,E,和ET在狭窄的密度范围内增加了种群密度(PD),这是由基因型不同的分till产生的。PD和ET之间存在显著相关性,E,还有PT,尤其是在2017-2018年最潮湿的生长季节。在如此窄的PD范围内,所有WU参数与PD之间的相关性均为负相关,尽管一些相关性没有统计学意义,从而表明人口结构的主要影响。在35°-65°的LIA范围内,LIA与ET和PT之间没有显着相关性。然而,在两个生长季节中,LIA和E之间发生了显着的相关性。LIA相似但PD不同的基因型产生不同的ET;而PD相似,四对具有不同LIA的基因型各自消耗相似的ET,从而突出了PD在调节ET中更重要的作用。产量随着LIA的增加而增加,并表现出显著的相关性,强调LIA对产量的显著影响。然而,与PD无相关性,表明在当前的播种密度下,分till的影响较小。因此,这些结果可能为选育节水品种和优化种群结构以实现有效的田间节水提供有价值的见解。
    Leaf inclination angle (LIA) and tillering impact the winter wheat (Triticum aestivum L.) population canopy structure. Understanding their effects on water use (WU) parameters and yield can guide water-saving strategies through population control. In this study, six near-isogenic lines (NILs) and their parents were selected as materials. These special materials were characterized by varying tillering at the current sowing density, a similar genetic background, and, particularly, a gradient in mean flag leaf LIA. The investigation focused on the jointing to early grain-filling stage, the peak water requirement period of wheat crops. Population-scale transpiration (PT) and evaporation from the soil surface (E) were partitioned from total evapotranspiration (ET) by the means of micro-lysimeters. The results showed decreased PT, E, and ET with increased population density (PD) within a narrow density range derived from varying tillering across genotypes. Significant correlations existed between PD and ET, E, and PT, especially in the wettest 2017-2018 growing season. Within such narrow PD range, all the correlations between WU parameters and PD were negative, although some correlations were not statistically significant, thereby suggesting the population structure\'s predominant impact. No significant correlation existed between LIA and both ET and PT within the LIA range of 35°-65°. However, significant correlations occurred between LIA and E in two growing seasons. Genotypes with similar LIA but different PD produced varied ET; while with similar PD, the four pairs of genotypes with different LIA each consumed similar ET, thus highlighting PD\'s more crucial role in regulating ET. The yield increased with higher LIA, and showed a significant correlation, emphasizing the LIA\'s significant effect on yield. However, no correlation was observed with PD, indicating the minor effect of tillering at the current sowing density. Therefore these results might offer valuable insights for breeding water-saving cultivars and optimizing population structures for effective field water conservation.
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  • 文章类型: English Abstract
    目的:评估中国女性对氧磷酶1(PON1)基因-c.108C>T和c.192Q>R多态性与子痫前期(PE)的相关性以及基因型对代谢和氧化应激指标的影响。
    方法:本病例对照研究纳入了334例PE患者和1337例健康孕妇。通过PCR和限制性片段长度多态性方法确定-c.108C>T和c.192Q>R基因型。还分析了代谢和氧化应激参数。
    结果:在PE患者和健康对照组之间,PON1基因的-c.108C>T和c.192Q>R多态性的基因型和等位基因频率没有统计学差异(P>0.05)。然而,这些多态性的192Q-108T单倍型与PE风险增加相关(P=0.007).与CT基因型相比,-108TT基因型患者的总抗氧化能力(TAC)和动脉粥样硬化指数更高(P<0.05);而与CC基因型相比,CT基因型患者的总氧化状态更低(P=0.036)。192RR基因型患者的丙二醛水平高于QQ基因型患者(P=0.019)。与QR基因型相比,RR基因型患者的TAC水平更高(P=0.015)。
    结论:PON1基因的192Q-108T单倍型与PE风险相关。这些多态性可能与中国PE患者的脂质代谢异常和氧化应激有关。
    OBJECTIVE: To assess the association of -c.108C>T and c.192Q>R polymorphisms of paraoxonase 1 (PON1) gene with preeclampsia (PE) and the influence of genotypes on the metabolic and oxidative stress indexes among Chinese women.
    METHODS: This case-control study has included 334 patients with PE and 1337 healthy pregnant women. The -c.108C>T and c.192Q>R genotypes were determined by PCR and restriction fragment length polymorphism method. Metabolic and oxidative stress parameters were also analyzed.
    RESULTS: No statistical difference in the genotypic and allelic frequencies for the -c.108C>T and c.192Q>R polymorphisms of the PON1 gene was found between the PE patients and the healthy controls (P > 0.05). Nevertheless, the 192Q-108T haplotype of these polymorphisms was associated with an increased risk of PE (P = 0.007). Total antioxidant capacity (TAC) and atherosderosis index were higher in patients with the -108TT genotype compared with those with a CT genotype (P < 0.05); whilst total oxidant status was lower in patients with a CT genotype compared with those with a CC genotype (P = 0.036). Malondialdehyde level was higher in patients with a 192RR genotype compared with those with a QQ genotype (P = 0.019). TAC level was higher in patients with a RR genotype compared with those with a QR genotype (P = 0.015).
    CONCLUSIONS: The 192Q-108T haplotype of the PON1 gene is associated with the risk for PE. These polymorphisms may be associated with abnormal lipid metabolism and oxidative stress among Chinese PE patients.
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  • 文章类型: Journal Article
    目的:探讨一个Bw亚型中国家系的血清学特征和遗传变异。
    方法:选择一名32岁女性先证者,于2020年12月10日在解放军联勤保障部队第960医院进行了产前检查,并从其谱系中选取5名成员作为研究对象。收集外周血样本,用血清学方法进行ABO血型表型鉴定,用荧光PCR进行ABO血型基因分型。通过对先证者中ABO基因的整个编码区进行直接测序并对外显子1-7进行克隆测序来进行遗传测试和单倍型分析。
    结果:先证者的血型血清学显示Bw,通过荧光PCR确定她的ABO血型基因型为B/O。直接测序结果表明,先证者与ABO*O.01.01/ABO*B.01基因型匹配,并携带c.1A>G变体。克隆测序已经证实c.1A>G变体已经发生在ABO*B.01等位基因中。家庭分析显示先证者的母亲是O型血,她丈夫有B表型,她的三个孩子都是正常的B型血.DNA测序显示先证者的两个儿子的基因型为ABO*B.01和c.1A>G/ABO*B.01。先证者的女儿是ABO*O.01.01/ABO*B.01,而她的母亲是ABO*O.01.01/ABO*O.01.02。新的c.1A>G变体序列已在数据库中注册,编号为MZ076785,1。
    结论:α-1,3半乳糖转氨酶基因外显子1的新c.1A>G变体可能是该家系中B抗原表达降低的基础。
    OBJECTIVE: To explore the serological characteristics and genetic variant in a Chinese pedigree with Bw subtype.
    METHODS: A 32-year-old female proband who had undergone prenatal examination on December 10, 2020 at the 960th Hospital of the PLA Joint Logistics Support Force and five members from her pedigree were selected as the study subjects. Peripheral blood samples were collected and subjected to ABO blood group phenotyping with serological methods and ABO blood group genotyping with fluorescent PCR. Genetic testing and haplotype analysis were carried out by direct sequencing of the entire coding region of the ABO gene in the proband and cloned sequencing of exons 1-7.
    RESULTS: The blood type serology of the proband showed Bw, and her ABO blood type genotype determined by fluorescence PCR was B/O. The direct sequencing results showed that the proband had matched the ABO*O.01.01/ABO*B.01 genotype and carried a c.1A>G variant. Cloned sequencing has confirmed the c.1A>G variant to have occurred in the ABO*B.01 allele. Family analysis revealed that the mother of the proband had an O blood type, her husband had a B phenotype, and her three children had a normal B blood type. DNA sequencing showed that the two sons of the proband had a genotype of ABO*B.01 and c.1A>G/ABO*B.01. The daughter of the proband was ABO*O.01.01/ABO*B.01, whilst her mother was ABO*O.01.01/ABO *O.01.02. The novel c.1A>G variant sequence has been registered with the database with a number MZ076785 1.
    CONCLUSIONS: The novel c.1A>G variant of exon 1 of α- 1,3 galactose aminotransferase gene probably underlay the reduced expression of B antigen in this pedigree.
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    文章类型: Journal Article
    背景:已知促炎脂肪因子抵抗素与肥胖有关,胰岛素抵抗,和炎症。抵抗素在炎症性疾病的病因学中的意义,比如牛皮癣,在这里探索。我们检查了土耳其人群中抵抗素基因多态性(-420C>G和299G>A)与牛皮癣之间的联系。
    方法:在本研究中,我们检查了107例银屑病患者和103例健康对照。通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)确定抵抗素-420C>G(rs1862513)和299G>A(rs3745367)基因多态性。
    结果:在银屑病患者中,抵抗素-420CG基因型的频率明显低于对照组。与控件相比,抵抗素299GA基因型和A等位基因频率明显较高。抵抗素-420CG基因型显着降低银屑病发病率的风险,而抵抗素299GA基因型和A等位基因与银屑病的高风险相关。
    结论:在土耳其社区,-420C>G和299G>A的抵抗素基因多态性可能对银屑病的病因和易感性有重要影响。
    BACKGROUND: The pro-inflammatory adipokine resistin is known to be related to obesity, insulin resistance, and inflammation. Resistin\'s significance in the etiology of inflammatory illnesses, such as psoriasis, is explored herein. We examined the link between resistin gene polymorphisms (-420 C>G and +299 G>A) and psoriasis in the Turkish population.
    METHODS: In this study, we examined 107 patients with psoriasis and 103 healthy controls. Resistin -420 C>G (rs1862513) and +299 G>A (rs3745367) gene polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
    RESULTS: In patients with psoriasis, the frequency of the resistin -420 CG genotype was meaningfully lower than in the controls. In comparison with the controls, the resistin +299 GA genotype and A allele frequencies were significantly higher. The Resistin -420 CG genotype significantly reduced the risk of psoriasis incidence, while the resistin +299 GA genotype and A allele were found to be associated with a higher risk of psoriasis.
    CONCLUSIONS: In the Turkish community, resistin gene polymorphisms at -420 C>G and +299 G>A may exert an important influence on psoriasis etiology and susceptibility.
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  • 文章类型: Journal Article
    2018年,日本再次出现猪瘟(CSF),这是26年来首次。已知该疾病是由中度致病病毒引起的,而不是过去发生的高致病性病毒。然而,潜在的病理生理学仍然未知。这项研究对处于初始状态的无特定病原体(SPF)猪进行了2、4和6周的实验攻击,并通过临床观察证实了每个时期的疾病状态。病毒检测,和病理尸检。我们揭示了病毒攻击后每个时期病原体和病毒特异性抗体的病理变化和分布。对这些结果进行了综合分析,约70%的猪痊愈,尤其是在病毒攻击后4周和6周。本研究通过阐明具有中等致病性基因型2.1病毒的未接种疫苗的猪的致病性结果,为将来针对CSF的对策提供了有用的信息。
    Classical swine fever (CSF) re-emerged in Japan in 2018 for the first time in 26 years. The disease has been known to be caused by a moderately pathogenic virus, rather than the highly pathogenic virus that had occurred in the past. However, the underlying pathophysiology remains unknown. This study conducted an experimental challenge on specific pathogen-free (SPF) pigs in a naïve state for 2, 4, and 6 weeks and confirmed the disease state during each period by clinical observation, virus detection, and pathological necropsy. We revealed the pathological changes and distribution of pathogens and virus-specific antibodies at each period after virus challenge. These results were comprehensively analyzed and approximately 70% of the pigs recovered, especially at 4- and 6-week post-virus challenge. This study provides useful information for future countermeasures against CSF by clarifying the pathogenicity outcomes in unvaccinated pigs with moderately pathogenic genotype 2.1 virus.
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    文章类型: Journal Article
    自身免疫性甲状腺炎逐渐破坏甲状腺,导致甲状腺功能减退,甚至可能导致乳头状甲状腺癌。维生素D的缺乏与自身免疫的发展有关。在一些研究中,维生素D受体基因的单核苷酸多态性与自身免疫性疾病有关。在这项基于医院的非干预性横断面研究中,研究了48例成人病例和50例年龄和性别匹配的健康对照中纯化DNA的维生素D受体基因的FokI(rs2228570)多态性。这项研究是在生物化学系进行的,加尔各答国立医学院,加尔各答,西孟加拉邦,印度从2021年1月到2022年7月。使用苯酚氯仿法分离其DNA,并在PCR扩增后使用适当的限制性内切酶通过限制性消化分析相关的单核苷酸多态性。通过卡方和比值比检验估计两组之间等位基因频率的差异。维生素D抗TPO抗体和甲状腺激素状态与多态性变异之间的任何潜在关联通过事后ANOVA在三种基因型中评估。病例组FF基因型分布明显高于病例组(χ²=10.2788,p=0.006)。在95%置信区间下,病例组等位基因F的比值比在1.97至5.94的范围内明显更高(χ²=13.9678,p=<0.001)。与Ff和ff基因型相比,基因型FF组具有显著最低的维生素D(p=0.008)和最高的抗TPOab(p=0.031)。因此,在印度东部研究人群中,VDR基因Fok1(rs2228570)多态性与自身免疫性甲状腺炎之间存在显着关联,FF基因型的优势是自身免疫性甲状腺炎和维生素D缺乏的强易感因素。
    Autoimmune thyroiditis gradually destroys the thyroid gland leading to hypothyroidism and may even lead to papillary thyroid carcinoma. Deficiency of Vitamin D has been linked to development of autoimmunity. Single nucleotide polymorphisms of the Vitamin D receptor gene have associated with autoimmune diseases in several studies. In this hospital based non interventional cross-sectional study Vitamin D receptor gene was studied for FokI (rs2228570) polymorphism from purified DNA in forty-eight adult cases and fifty age and sex matched healthy controls. This study was conducted in the department of Biochemistry, Calcutta National Medical College, Kolkata, West Bengal, India from January 2021 to July 2022. Their DNA was isolated using phenol chloroform method and were analysed for the related single nucleotide polymorphism by restriction digestion using appropriate restriction enzymes after amplification by PCR. Differences in allele frequencies between two groups were estimated by chi square and odds ratio test. Any potential association between the vitamin D anti TPO antibody and thyroid hormone status with polymorphic variations were assessed by post hoc ANOVA among the three genotypes. The distribution of FF genotype was significantly higher among the case group (Χ²=10.2788, p=0.006). The odds ratio for the allele F was significantly higher in case group for a range of 1.97 to 5.94 for 95 percent confidence interval (Χ²=13.9678, p=<0.001). The genotype FF group had significantly lowest Vitamin D (p=0.008) and highest Anti TPO ab (p=0.031) compared to Ff and ff genotypes. Thus, significant association was revealed between the VDR gene Fok1(rs2228570) polymorphism and autoimmune thyroiditis with the predominance of FF genotype being a strong susceptibility factor for autoimmune thyroiditis and Vitamin D deficiency in the studied population of Eastern India.
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