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Interrelation of IL1B and IL6 genes polymorphism with blood eosinophilia and histological picture of polyps in patients with chronic polypous rhinosinusitis 慢性息肉性鼻窦炎患者il - 1b和il - 6基因多态性与嗜酸性粒细胞增多和息肉组织学表现的关系
Pub Date : 2021-12-30 DOI: 10.18413/2658-6533-2021-7-4-0-3
O. Y. Mezentseva, V. S. Piskunov, A. Polonikov
Background: The problem of chronic polyposis rhinosinusitis is one of the most common diseases in modern otorhinolaryngology with an etiopathogenesis that is not fully understood. A widely studied theory of nasal polyposis formation today is genetic. It is believed that some candidate genes, such as cytokine genes, can influence not only the onset of the disease itself, but also its clinical manifestations, such as blood eosinophilia and the histological structure of polyposis tissue, since this pathology is often accompanied by atopy with an increase in the level of eosinophils. The aim of the study: To study the associations of gene polymorphism IL1B (rs1143627) and IL6 (rs1800796) with blood eosinophilia and histological types of polyps in patients with chronic polypous rhinosinusitis. Materials and methods: An objective examination of racially and ethnically indistinguishable patients with nasal polyposis aged 18 to 60 years was carried out. The study involved 151 (37%) women and 257 (63%) men. A questionnaire was carried out with an emphasis on the socio-biological status of the patient, complaints, anamnesis of life and disease, data of clinical and laboratory examinations, features of the course of the disease. After venous blood was collected from the ulnar vein by standard phenol-chloroform extraction, DNA was isolated and then rs1143627 and rs1800796 genotyped. The odds ratio (OR) and 95% confidence interval (95% CI) were used to assess the presence of genotype associations; the correspondence of the distribution of genotype frequencies to the Hardy-Weinberg Оригинальная статья Original article Научные результаты биомедицинских исследований. 2021;7(4:363-374 Research Results in Biomedicine. 2021:7(4):363-374 365 equilibrium was judged by the p-level of significance. Results: An association of carriage of the G/G genotype (OR=0.31; 95 CI 0.10-0.92; p=0.037) of the IL1B gene (rs1143627) with a reduced probability of the formation of glandular polyps was revealed. No associations of polymorphic variants of the studied genes with blood eosinophilia were found. No functional effects of rs1143627 and rs1800796 in the tissues of the upper respiratory tract, nasal polyps and paranasal sinuses were found. The absence of the effect of rs1800796 on the expression of the IL6 gene was revealed. Conclusion: Thus, the revealed relationship of the G/G polymorphism of the IL1B gene (rs1143627) with a reduced likelihood of the formation of glandular polyps in patients with chronic polyposis rhinosinusitis may be evidence of the genetic causation of this disease, however, this hypothesis requires further study.
背景:慢性息肉病性鼻窦炎是现代耳鼻喉科最常见的疾病之一,其发病机制尚不完全清楚。目前广泛研究的鼻息肉形成理论是遗传的。据认为,一些候选基因,如细胞因子基因,不仅可以影响疾病本身的发病,还可以影响其临床表现,如血液嗜酸性粒细胞增多和息肉组织的组织学结构,因为这种病理常伴有嗜酸性粒细胞水平升高的特应性。研究目的:研究IL1B (rs1143627)和IL6 (rs1800796)基因多态性与慢性息肉性鼻窦炎患者血嗜酸性粒细胞增多和息肉组织学类型的关系。材料与方法:对18 ~ 60岁的鼻息肉患者进行了客观的人种和民族区分。该研究涉及151名(37%)女性和257名(63%)男性。进行了问卷调查,重点是患者的社会生物学状况、投诉、生活和疾病的记忆、临床和实验室检查数据、疾病过程的特征。标准苯酚-氯仿提取尺静脉静脉血,分离DNA,进行rs1143627和rs1800796基因分型。使用优势比(OR)和95%置信区间(95% CI)来评估基因型关联的存在;对应的基因型分布频率的哈迪温伯格Оригинальнаястатья原文Научныерезультатыбиомедицинскихисследований。2021:7(4):363-374生物医学研究成果,2021:7(4):363-374 365均衡通过p水平显著性判断。结果:携带G/G基因型的相关性(OR=0.31;95 ci 0.10-0.92;p=0.037)的IL1B基因(rs1143627)与腺体息肉形成的概率降低有关。未发现所研究基因的多态性变异与血嗜酸性粒细胞增多症有关。rs1143627和rs1800796在上呼吸道、鼻息肉和鼻窦组织中未发现功能影响。结果表明,rs1800796不影响il - 6基因的表达。结论:il - 1b基因(rs1143627) G/G多态性与慢性息肉病性鼻窦炎患者腺体息肉形成可能性降低的关系可能是该病遗传原因的证据,但这一假设有待进一步研究。
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引用次数: 1
Chromosome 18p deletion syndrome (18p-) in children: the value of cytogenetic and molecular cytogenetic diagnosis 儿童18p染色体缺失综合征(18p-)的细胞遗传学和分子细胞遗传学诊断价值
Pub Date : 2021-09-30 DOI: 10.18413/2658-6533-2021-7-3-0-5
S. Vorsanova, Y. Yurov, I. Demidova, V. S. Kravets, Alexey D. Kolotii, K. Vasin, I. V. Soloviev, I. Iourov
Chromosome 18p deletion syndrome (18p-) is associated with a loss of chromosomal material of the short arm (partial monosomy); however, the whole short arm is lost in the majority of cases. The frequency of 18p- syndrome is 1:60000. The syndrome is cytogenetically and clinically heterogeneous. The clinical manifestations vary extremely from mild forms with congenital anomalies and developmental delays to severe brain malformations. Rare cases demonstrate epilepsy and autism spectrum disorders. The deletion breakpoints are also variable. Accordingly, the syndrome needs the analysis of large groups of diseased children by current genomic technologies. Aim of the study: The evaluation of cytogenetic and molecular- cytogenetic technologies for defining critical breakpoints and possible phenotype- genotype correlations. Results: Here, we describe our observations of 15 patients (9 boys and 6 girls) with 18p deletion syndrome, revealed in a large cohort of patients (n=8536). The mean age was 5.1 years; the sex ratio was in favor of boys (1.5:1) in contrast to the literature data. Critical breakpoints associated with this syndrome within the short arm of chromosome 18 were not revealed. It is possible that the clinical features of the syndrome are associated with many breakpoints in chromosome 18 short arm (p11.1->pter). The frequency of 18p- syndrome in children with intellectual disability, developmental delays, and congenital anomalies was 0.2%. The diagnostic aspects of this pathology and the value of molecular cytogenetic methods in studying the syndrome are discussed. Conclusion: We highlight personalized approach to diagnosis of the syndrome for correct genetic counseling for the improvement the life quality and establishing phenotype-karyotype correlations.
染色体18p缺失综合征(18p-)与短臂染色体物质的缺失(部分单体)有关;然而,在大多数情况下,整个短臂会丢失。18p-综合征的发生率为1:6万。该综合征具有细胞遗传学和临床异质性。临床表现各不相同,从轻微的先天畸形和发育迟缓到严重的脑畸形。罕见病例表现为癫痫和自闭症谱系障碍。删除断点也是可变的。因此,该综合征需要利用当前的基因组技术对大量患病儿童进行分析。研究目的:评估细胞遗传学和分子细胞遗传学技术,以确定关键断点和可能的表型-基因型相关性。结果:在这里,我们描述了我们在一个大队列患者(n=8536)中观察到的15例18p缺失综合征患者(9名男孩和6名女孩)。平均年龄5.1岁;与文献数据相比,男孩的性别比为1.5:1。在18号染色体短臂内与该综合征相关的关键断点未被发现。该综合征的临床特征可能与18号染色体短臂中的许多断点有关(p11.1->pter)。在智力残疾、发育迟缓和先天性异常的儿童中,18p-综合征的发生率为0.2%。本文讨论了这种病理的诊断方面以及分子细胞遗传学方法在研究该综合征中的价值。结论:我们强调个性化的诊断方法,为改善生活质量和建立表型-核型相关性提供正确的遗传咨询。
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引用次数: 0
Correction of hypertensive retinal changes in rats with Semax Semax对大鼠高血压视网膜病变的矫正作用
Pub Date : 2021-09-30 DOI: 10.18413/2658-6533-2021-7-3-0-6
Sergey S. Lugovskoy, S. S. Chernyaeva, A. Peresypkina, A. Pobeda, N. V. Solovev, K. Shchurovskaya, I. Iezhitsa
Currently, there are no drugs for the specific treatment of hypertensive retinal changes. The main therapy is for the treatment of a systemic disease – hypertensive disease. Therefore, the search for ways of specific pharmacological correction of hypertensive retinal changes is of great interest. The aim of the study: To evaluate the correction possibility of retinal injuries with Semax in a rat model of hypertensive neuroretinopathy. Materials and methods: The model was performed by injection of N-nitro-L-arginine methyl ester (L-NAME) at a dose of 1.25 mg/100 g of rat mass within 28 days and a single increase in intraocular pressure (IOP) to 110 mmHg for 5 min. The retinoprotective effect of Semax at a dose of 7.2 μg/100 g of rat mass, in comparison with Picamilon at a dose of 3 mg/100 g of rat mass, was estimated by laser Doppler flowmetry (LDF) and electroretinography (ERG). Results: The use of Semax led to an increase in retinal perfusion by 62.7%, p < 0.05, in comparison with the group with the model, and by 9.9%, p < 0.05, in comparison with Picamilon; an increase in the b/a coefficient by 31.4% in comparison with the group with the model, p < 0.05, and by 14.6%, p < 0.05 in comparison with Picamilon. Conclusion: The neuroretinoprotective effect of Semax in correction of hypertensive retinal changes in rats may be due to the presence of neuroprotective, neurometabolic, antioxidant and endothelioprotective effects in Semax. Thus, Semax can be a promising agent in hypertensive neuroretinopathy treatment.
目前,还没有专门治疗高血压视网膜病变的药物。主要治疗的是一种全身性疾病——高血压病。因此,寻找高血压视网膜病变的特异性药物矫正方法具有重要意义。目的:探讨Semax对高血压性视网膜病变大鼠视网膜损伤的矫正作用。材料与方法:模型是由注入N-nitro-L-arginine甲酯(L-NAME)剂量为1.25毫克/ 100克鼠质量在28天内和一个增加眼内压(IOP)为5分钟。110毫米汞柱Semax retinoprotective效应的剂量为7.2μg / 100克鼠质量,相比与Picamilon剂量的3毫克/ 100克鼠质量,由激光多普勒估计flowmetry法律辩护基金()和electroretinography (ERG)。结果:Semax使大鼠视网膜灌注比模型组增加62.7%,p < 0.05;比Picamilon组增加9.9%,p < 0.05;b/a系数比模型组提高31.4%,p < 0.05;比Picamilon组提高14.6%,p < 0.05。结论:Semax对大鼠高血压视网膜病变的神经视网膜保护作用可能与Semax具有神经保护、神经代谢、抗氧化和内皮保护作用有关。因此,Semax是治疗高血压神经视网膜病变的一种有前景的药物。
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引用次数: 0
About the origin of the acrocentric part of non-acrocentric satellited chromosomes in humans 关于人类非顶心伴体染色体顶心部分的起源
Pub Date : 2021-09-30 DOI: 10.18413/2658-6533-2021-7-3-0-1
Mohammed Abdulazeez, Stefanie Kankel, T. Liehr
Variants in size of the acrocentric short arms (acro-ps) are normally not reported and considered as chromosomal heteromorphisms (CHMs) without any influence on the carrier’s phenotype. However, if acro-ps are translocated to ends of A-chromosomes (i.e. human chromosomes 1-22 and X or Y), those rearrangements are studied in more detail. The aim of the study: Here we characterized 11 healthy carriers of a non-acrocentric satellited chromosomes der(A)t(A;acro)(pter or qter;p1?1.2) to determine the frequency of chromosome 15p and 22p in such rearrangements. Materials and methods: 11 carriers of one (10 cases) or two (1 case) der(A)t(A;acro) were identified during routine cytogenetic analyses. They were originally referred due to infertility or due to a mentally retarded child with otherwise abnormal karyotype. Here derivative chromosomes were studied by fluorescence in situ hybridization applying probes D15Z1 (specific for 15p11.2) and D22Z4 (specific for 22p11.2). As there are no DNA-sequences available for 13p11.2, 14p11.2 and 21p11.2 these regions could not be tested. Results: D15Z1 sequences were identified in 1 out of 12 derivatives der(A)t(A;acro). D22Z1 could not be detected in any of the 11 remainder derivatives. However, only 3 of the 12 der(A)t(A;acro) had acro-ps large enough to potentially comprise sub-band p11.2. Conclusion: In contrast to der(Y)t(Y;acro)(q12;p1?1.2), where in at least 65% of the cases the acro-p part contains D15Z1 sequences, here it could be shown that in der(A)t(A;acro) 15p involvement can be substantiated much less frequently. Also, in none of the two groups D22Z4-sequences were detected in acro-p-parts yet. Besides, breakpoint of acro-pparts in der(A)t(A;acro) seem to be in ~75% of the cases distal from p11.2.
顶中心短臂(acroo -ps)大小的变异通常未被报道,并被认为是染色体异型(CHMs),对携带者的表型没有任何影响。然而,如果acrops易位到a染色体的末端(即人类染色体1-22和X或Y),则对这些重排进行更详细的研究。本研究的目的是:在这里,我们对11个健康的非单中心卫星染色体der(a)t(a;acro)(pter或qter;p1 - 1.2)的携带者进行了特征分析,以确定染色体15p和22p在这种重排中的频率。材料和方法:在常规细胞遗传学分析中鉴定出1例(10例)或2例(1例)der(A)t(A;acro)携带者11例。他们最初是由于不孕症或由于智力迟钝的孩子与其他异常核型。本研究使用探针D15Z1 (15p11.2特异性)和D22Z4 (22p11.2特异性)对衍生染色体进行荧光原位杂交研究。由于没有13p11.2、14p11.2和21p11.2的dna序列,这些区域无法检测。结果:D15Z1序列在der(A)t(A;acro)的12个衍生物中鉴定出1个。D22Z1在其余11个衍生物中均未检测到。然而,12个der(A)t(A;acro)中只有3个具有足够大的acrops,可能包含子带p11.2。结论:与der(Y)t(Y;acro)(q12;p1?1.2)相比,在至少65%的病例中,acrop部分包含D15Z1序列,这里可以证明,der(A)t(A;acro) 15p受累的频率要低得多。此外,在两组中均未检测到跨p部分的d22z4序列。此外,在图(A)和图(A;acro)中,似乎有75%的病例在p11.2远端出现跨部断点。
{"title":"About the origin of the acrocentric part of non-acrocentric satellited chromosomes in humans","authors":"Mohammed Abdulazeez, Stefanie Kankel, T. Liehr","doi":"10.18413/2658-6533-2021-7-3-0-1","DOIUrl":"https://doi.org/10.18413/2658-6533-2021-7-3-0-1","url":null,"abstract":"Variants in size of the acrocentric short arms (acro-ps) are normally not reported and considered as chromosomal heteromorphisms (CHMs) without any influence on the carrier’s phenotype. However, if acro-ps are translocated to ends of A-chromosomes (i.e. human chromosomes 1-22 and X or Y), those rearrangements are studied in more detail. The aim of the study: Here we characterized 11 healthy carriers of a non-acrocentric satellited chromosomes der(A)t(A;acro)(pter or qter;p1?1.2) to determine the frequency of chromosome 15p and 22p in such rearrangements. Materials and methods: 11 carriers of one (10 cases) or two (1 case) der(A)t(A;acro) were identified during routine cytogenetic analyses. They were originally referred due to infertility or due to a mentally retarded child with otherwise abnormal karyotype. Here derivative chromosomes were studied by fluorescence in situ hybridization applying probes D15Z1 (specific for 15p11.2) and D22Z4 (specific for 22p11.2). As there are no DNA-sequences available for 13p11.2, 14p11.2 and 21p11.2 these regions could not be tested. Results: D15Z1 sequences were identified in 1 out of 12 derivatives der(A)t(A;acro). D22Z1 could not be detected in any of the 11 remainder derivatives. However, only 3 of the 12 der(A)t(A;acro) had acro-ps large enough to potentially comprise sub-band p11.2. Conclusion: In contrast to der(Y)t(Y;acro)(q12;p1?1.2), where in at least 65% of the cases the acro-p part contains D15Z1 sequences, here it could be shown that in der(A)t(A;acro) 15p involvement can be substantiated much less frequently. Also, in none of the two groups D22Z4-sequences were detected in acro-p-parts yet. Besides, breakpoint of acro-pparts in der(A)t(A;acro) seem to be in ~75% of the cases distal from p11.2.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83220955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The spectrum of pharmacological activity of different groups of natural compounds of laurel leaves and the choice of the optimal extractant for the extraction of essential oil from them 月桂叶中不同基团天然化合物的药理活性谱及最佳萃取剂的选择
Pub Date : 2021-09-30 DOI: 10.18413/2658-6533-2021-7-3-0-7
Yulia E. Polousova Polousova, Dmitry I. Pisarev, O. Novikov, R. Abramovich, K. M. Sakanyan
Laurel noble – Laurus nobilis L., a plant whose leaves are widely used in cooking and are used in folk medicine. L. nobilis L. leaves contain more than 80 volatile components, represented mainly by monocyclic monoterpenes. The identification of more and more new therapeutic properties of the plant testifies to its incompletely undisclosed therapeutic potential. However, despite the impressive therapeutic potential of the plant, it is not used in domestic scientific medicine. The aim of the study: To describe the spectrum of types of pharmacological activity of L. nobilis L. and selection of the optimal extractant for the extraction of essential oil from the leaves of the object under study. Materials and methods: Laurel leaves were used as the test material. The essential oil from the leaves was obtained by extraction with freons, which are methoxynonafluorobutane and fluoroketone. The extractant for comparison was n-hexane. The method of studying essential oils was chromatography- mass spectrometry. Chromatography was performed on a gas chromatograph – mass spectrometer – GCMS-QP2010 Ultra, Shimadzu, Japan. Ionization is carried out in the electronic shock mode, detection by the total ionic current (SCAN) in the programmed temperature mode. Results: According to the literature, the essential oil of L. nobilis L. leaves have a pronounced antibacterial, antioxidant and antiinflammatory effect. Polyphenolic compounds of L. nobilis L. leaves are represented by flavonoids, derivatives of kaempferol and quercetin. It is believed that flavonoids are responsible for hypoglycemic, insular protective, antioxidant effects. The results of chromatography showed that the essential oil is represented mainly by 12 compounds, the dominant of which were 1.8-cineole (eucalyptol), alpha-terpenyl acetate and methyleugenol. During chromatography, it was also found that the optimal extractant is methoxynonafluorobutane, which extracts terpenoids with the highest yield. The prospects of using freons as agents for obtaining essential oil from laurel leaves have been shown. The composition of the essential oil isolated by freons from the leaves of laurel was determined by the method of gas chromatography-mass spectrometry. The results of chromatography showed that in the obtained freon extracts, 1.8-cineole (eucalyptol), alpha-terpenyl acetate and methyleugenol were dominant, which is close in composition to the native essential oil, according to literature data. Conclusion: The prospects of using freons as agents for extracting essential oil from L. nobilis L. leaves were shown. During chromatography, it was found that the optimal extractant is methoxynonafluorobutane, which extracts volatile components with the highest yield compared to fluoroketone and n-hexane; in addition, methoxyfluorobutane is non-toxic compared to n-hexane.
贵月桂-贵月桂是一种植物,其叶子广泛用于烹饪和民间医药。白杨叶片中含有80多种挥发性成分,主要为单环单萜。该植物越来越多的新治疗特性的发现证明了其尚未完全公开的治疗潜力。然而,尽管这种植物具有令人印象深刻的治疗潜力,但它并未在国内科学医学中使用。本研究的目的:描述白芷的药理活性类型的谱,并选择最佳的萃取剂从研究对象的叶子中提取精油。材料与方法:以月桂叶为试验材料。用氟利昂(甲氧基非氟丁烷和氟酮)萃取得到香叶精油。比较用的萃取剂为正己烷。采用色谱-质谱联用法对精油进行研究。色谱采用气相色谱-质谱联用仪GCMS-QP2010 Ultra,日本岛津。电离在电子冲击模式下进行,在程序设定的温度模式下通过总离子电流(SCAN)进行检测。结果:根据文献报道,白芷叶挥发油具有明显的抗菌、抗氧化和抗炎作用。山奈酚和槲皮素是山奈酚和槲皮素的衍生物。人们认为黄酮类化合物具有降血糖、保护胰岛和抗氧化的作用。色谱分析结果表明,该精油主要由12个化合物组成,其中以1.8-桉树油素、α -乙酸萜烯酯和甲基丁香酚为主。在层析过程中,还发现最佳萃取剂为甲氧基非氟丁烷,该萃取剂对萜类化合物的提取率最高。展望了氟利昂试剂在月桂叶精油提取中的应用前景。采用气相色谱-质谱联用方法对月桂叶中氟利昂分离得到的精油进行了成分分析。色谱分析结果显示,所得氟利昂提取物中以1.8-桉叶油素(桉叶油醇)、α -乙酸萜烯酯和甲基丁香酚为主,成分与天然精油相近。结论:氟利昂试剂在提取白芷叶精油方面具有广阔的应用前景。在色谱分析中,发现最佳萃取剂为甲氧基非氟丁烷,相对于氟酮和正己烷,甲氧基非氟丁烷萃取挥发性成分得率最高;此外,与正己烷相比,甲氧基氟丁烷是无毒的。
{"title":"The spectrum of pharmacological activity of different groups of natural compounds of laurel leaves and the choice of the optimal extractant for the extraction of essential oil from them","authors":"Yulia E. Polousova Polousova, Dmitry I. Pisarev, O. Novikov, R. Abramovich, K. M. Sakanyan","doi":"10.18413/2658-6533-2021-7-3-0-7","DOIUrl":"https://doi.org/10.18413/2658-6533-2021-7-3-0-7","url":null,"abstract":"Laurel noble – Laurus nobilis L., a plant whose leaves are widely used in cooking and are used in folk medicine. L. nobilis L. leaves contain more than 80 volatile components, represented mainly by monocyclic monoterpenes. The identification of more and more new therapeutic properties of the plant testifies to its incompletely undisclosed therapeutic potential. However, despite the impressive therapeutic potential of the plant, it is not used in domestic scientific medicine. The aim of the study: To describe the spectrum of types of pharmacological activity of L. nobilis L. and selection of the optimal extractant for the extraction of essential oil from the leaves of the object under study. Materials and methods: Laurel leaves were used as the test material. The essential oil from the leaves was obtained by extraction with freons, which are methoxynonafluorobutane and fluoroketone. The extractant for comparison was n-hexane. The method of studying essential oils was chromatography- mass spectrometry. Chromatography was performed on a gas chromatograph – mass spectrometer – GCMS-QP2010 Ultra, Shimadzu, Japan. Ionization is carried out in the electronic shock mode, detection by the total ionic current (SCAN) in the programmed temperature mode. Results: According to the literature, the essential oil of L. nobilis L. leaves have a pronounced antibacterial, antioxidant and antiinflammatory effect. Polyphenolic compounds of L. nobilis L. leaves are represented by flavonoids, derivatives of kaempferol and quercetin. It is believed that flavonoids are responsible for hypoglycemic, insular protective, antioxidant effects. The results of chromatography showed that the essential oil is represented mainly by 12 compounds, the dominant of which were 1.8-cineole (eucalyptol), alpha-terpenyl acetate and methyleugenol. During chromatography, it was also found that the optimal extractant is methoxynonafluorobutane, which extracts terpenoids with the highest yield. The prospects of using freons as agents for obtaining essential oil from laurel leaves have been shown. The composition of the essential oil isolated by freons from the leaves of laurel was determined by the method of gas chromatography-mass spectrometry. The results of chromatography showed that in the obtained freon extracts, 1.8-cineole (eucalyptol), alpha-terpenyl acetate and methyleugenol were dominant, which is close in composition to the native essential oil, according to literature data. Conclusion: The prospects of using freons as agents for extracting essential oil from L. nobilis L. leaves were shown. During chromatography, it was found that the optimal extractant is methoxynonafluorobutane, which extracts volatile components with the highest yield compared to fluoroketone and n-hexane; in addition, methoxyfluorobutane is non-toxic compared to n-hexane.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74495996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Integrated in-depth bioinformatic analysis suggests RELCH/KIAA1468, LINC02341, and AKAP11 as candidate genes for ages at menarche and menopause 综合深入的生物信息学分析表明,RELCH/KIAA1468、LINC02341和AKAP11是影响月经初潮和更年期年龄的候选基因
Pub Date : 2021-09-30 DOI: 10.18413/2658-6533-2021-7-3-0-2
V. Dvornyk
Polymorphisms of the TNFRSF11A and TNFSF11 genes were reported for their association with age at menarche (AAM) and age at natural menopause (ANM). However, the biological mechanisms underlying this association remain largely unclear. The aim of the study: This study was to determine biological processes backing the observed genetic associations. Materials and methods: Fortyfour SNPs were analyzed using in silico approach and ten publicly available online databases and tools. Results: TNFRSF11A and TNFSF11 are highly pleiotropic genes that play a role in many metabolic processes. However, among that variety, lipid metabolism and cell survival and apoptosis seem the most biologically plausible mechanisms, through which these genes contribute to AAM and ANM. The analysis identified several mechanisms underlying the previously determined association of the TNFRSF11A and TNFSF11 genes with AAM and ANM and suggested RELCH/KIAA1468, LINC02341, and AKAP11 as new candidate genes for the traits.
据报道,TNFRSF11A和TNFSF11基因的多态性与月经初潮年龄(AAM)和自然绝经年龄(ANM)有关。然而,这种关联背后的生物学机制在很大程度上仍不清楚。这项研究的目的是确定支持观察到的遗传关联的生物学过程。材料和方法:使用计算机方法和10个公开的在线数据库和工具分析了44个snp。结果:TNFRSF11A和TNFSF11是高度多效性基因,在多种代谢过程中发挥作用。然而,在这些基因中,脂质代谢和细胞存活和凋亡似乎是生物学上最合理的机制,这些基因通过这些机制参与AAM和ANM。该分析确定了TNFRSF11A和TNFSF11基因与AAM和ANM关联的几种机制,并建议RELCH/KIAA1468、LINC02341和AKAP11作为这些性状的新候选基因。
{"title":"Integrated in-depth bioinformatic analysis suggests RELCH/KIAA1468, LINC02341, and AKAP11 as candidate genes for ages at menarche and menopause","authors":"V. Dvornyk","doi":"10.18413/2658-6533-2021-7-3-0-2","DOIUrl":"https://doi.org/10.18413/2658-6533-2021-7-3-0-2","url":null,"abstract":"Polymorphisms of the TNFRSF11A and TNFSF11 genes were reported for their association with age at menarche (AAM) and age at natural menopause (ANM). However, the biological mechanisms underlying this association remain largely unclear. The aim of the study: This study was to determine biological processes backing the observed genetic associations. Materials and methods: Fortyfour SNPs were analyzed using in silico approach and ten publicly available online databases and tools. Results: TNFRSF11A and TNFSF11 are highly pleiotropic genes that play a role in many metabolic processes. However, among that variety, lipid metabolism and cell survival and apoptosis seem the most biologically plausible mechanisms, through which these genes contribute to AAM and ANM. The analysis identified several mechanisms underlying the previously determined association of the TNFRSF11A and TNFSF11 genes with AAM and ANM and suggested RELCH/KIAA1468, LINC02341, and AKAP11 as new candidate genes for the traits.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88192784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The relationship between polymorphism rs12449964 of the phosphatidylethanolamine- N-methyltransferase gene and hypertriglyceridemia and obesity in patients with type 2 diabetes 磷脂酰乙醇胺- n -甲基转移酶基因rs12449964多态性与2型糖尿病患者高甘油三酯血症和肥胖的关系
Pub Date : 2021-09-30 DOI: 10.18413/2658-6533-2021-7-3-0-4
I. Azarova
Phosphatidylethanolamine N-methyltransferase (PEMT) is the enzyme of lipid metabolism that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine in a series of three methylation reactions. Low activity of the enzyme can increase the availability of phosphatidic acid for triacylglycerol synthesis and thus favor obesity, one of the most important risk factors for type 2 diabetes (T2D). The aim of the study: To study the relationship of the rs12449964 (C>T) in the regulatory region of the PEMT (phosphatidylethanolamine-N-methyltransferase) gene with blood plasma triglycerides, as well as the risk of obesity and T2D in population of Central Russia. Materials and methods: The study included 2060 unrelated individuals of Slavic origin, including 1024 patients with T2D and 1036 healthy volunteers. Genotyping of PEMT gene polymorphism (C>T, rs12449964) was performed by laser desorption / ionization time-of-flight mass spectrometry using the MassArray Analyzer 4 platform (Agena Bioscience). SNPStats online program was used for statistical analysis of the obtained data. Results: Linear regression analysis did not reveal an association of rs12449964 of the PEMT gene with a risk of developing T2D regardless of body mass index (P>0,05). However, the T/T genotype of the studied SNP is associated with an increased risk of obesity in patients with type 2 diabetes (OR 1.66; 95% CI 1.11-2.46; P = 0.011, adjusted for sex and age, recessive model). In addition, carriage of the T/T genotype was associated with a higher level of triacylglycerols in the blood plasma of patients with T2D, both in the presence of obesity and without it (P<0.05). According to GTEx Portal, the rs12449964T allele is associated with decreased PEMT expression in various tissues. Conclusion: The study revealed for the first time the association of rs12449964 of the PEMT gene with hypertriglyceridemia and an increased risk of obesity in patients with T2D, which may be due to the low transcriptional activity of the phosphatidylethanolamine- N-methyltransferase gene in carriers of the alternative allele of the studied SNP.
磷脂酰乙醇胺n -甲基转移酶(PEMT)是一种脂质代谢酶,催化磷脂酰乙醇胺在一系列三次甲基化反应中转化为磷脂酰胆碱。低活性的酶可以增加磷脂酸合成三酰甘油的可用性,从而有利于肥胖,这是2型糖尿病(T2D)最重要的危险因素之一。本研究目的:研究俄罗斯中部人群ppt(磷脂酰乙醇胺- n -甲基转移酶)基因调控区域rs12449964 (C>T)与血浆甘油三酯、肥胖和T2D风险的关系。材料与方法:本研究纳入无血缘关系的斯拉夫裔个体2060例,其中T2D患者1024例,健康志愿者1036例。使用masarray Analyzer 4平台(Agena Bioscience),采用激光解吸/电离飞行时间质谱法对ppt基因多态性(C b> T, rs12449964)进行基因分型。使用SNPStats在线程序对获得的数据进行统计分析。结果:线性回归分析未显示ppt基因rs12449964与发生T2D的风险相关,而与体重指数无关(P>0,05)。然而,所研究的SNP的T/T基因型与2型糖尿病患者肥胖风险增加相关(OR 1.66;95% ci 1.11-2.46;P = 0.011,经性别和年龄调整,为隐性模型)。此外,携带T/T基因型与T2D患者血浆中较高水平的甘油三酯相关,无论是否存在肥胖(P<0.05)。根据GTEx Portal, rs12449964T等位基因与多种组织中ppemt表达减少有关。结论:本研究首次揭示了ppt基因rs12449964与T2D患者高甘油三酯血症和肥胖风险增加的相关性,这可能是由于所研究SNP替代等位基因携带者的磷脂酰乙醇胺- n -甲基转移酶基因转录活性较低所致。
{"title":"The relationship between polymorphism rs12449964 of the phosphatidylethanolamine- N-methyltransferase gene and hypertriglyceridemia and obesity in patients with type 2 diabetes","authors":"I. Azarova","doi":"10.18413/2658-6533-2021-7-3-0-4","DOIUrl":"https://doi.org/10.18413/2658-6533-2021-7-3-0-4","url":null,"abstract":"Phosphatidylethanolamine N-methyltransferase (PEMT) is the enzyme of lipid metabolism that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine in a series of three methylation reactions. Low activity of the enzyme can increase the availability of phosphatidic acid for triacylglycerol synthesis and thus favor obesity, one of the most important risk factors for type 2 diabetes (T2D). The aim of the study: To study the relationship of the rs12449964 (C>T) in the regulatory region of the PEMT (phosphatidylethanolamine-N-methyltransferase) gene with blood plasma triglycerides, as well as the risk of obesity and T2D in population of Central Russia. Materials and methods: The study included 2060 unrelated individuals of Slavic origin, including 1024 patients with T2D and 1036 healthy volunteers. Genotyping of PEMT gene polymorphism (C>T, rs12449964) was performed by laser desorption / ionization time-of-flight mass spectrometry using the MassArray Analyzer 4 platform (Agena Bioscience). SNPStats online program was used for statistical analysis of the obtained data. Results: Linear regression analysis did not reveal an association of rs12449964 of the PEMT gene with a risk of developing T2D regardless of body mass index (P>0,05). However, the T/T genotype of the studied SNP is associated with an increased risk of obesity in patients with type 2 diabetes (OR 1.66; 95% CI 1.11-2.46; P = 0.011, adjusted for sex and age, recessive model). In addition, carriage of the T/T genotype was associated with a higher level of triacylglycerols in the blood plasma of patients with T2D, both in the presence of obesity and without it (P<0.05). According to GTEx Portal, the rs12449964T allele is associated with decreased PEMT expression in various tissues. Conclusion: The study revealed for the first time the association of rs12449964 of the PEMT gene with hypertriglyceridemia and an increased risk of obesity in patients with T2D, which may be due to the low transcriptional activity of the phosphatidylethanolamine- N-methyltransferase gene in carriers of the alternative allele of the studied SNP.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83365827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
The contribution of the endocrine system to the development of osteoporosis in the elderly and senile (review) 内分泌系统在中老年骨质疏松症发生中的作用(综述)
Pub Date : 2021-09-30 DOI: 10.18413/2658-6533-2021-7-3-0-9
S. Bulgakova, D. P. Kurmaev, M. Silyutina, E. Voronina, T. E. Nichik
Osteoporosis is increasingly found in the elderly and senile, maintaining its enormous medical and social significance. The effect of hormones on bone metabolism is beyond doubt. However, currently the data on the effect of sex hormones on bone tissue prevails. As for the other hormones, sometimes, there are conflicting opinions. The aim of the study: Based on published data, to study the contribution of the endocrine system to the development of osteoporosis in the elderly. Materials and methods: Literature data was analyzed using the following search words: osteoporosis, bone mineral density, FSH, estrogens, testosterone, cortisol, vitamin D, IGF1 for 1998-2020 in computer databases PubMed, Scopus, Medical- Science, Elibrary, Web of Science, Ceeol. Results: Analysis of the literature showed that the increase of levels of thyroid stimulating hormone (TSH) plays an osteoprotective role; the decrease of levels of estrogen, testosterone, insulin-like growth factor 1 (IGF1) and vitamin D, as well as the increase in the levels of cortisol, parathyroid hormone and follicle-stimulating hormone (FSH) contribute to bone loss in the elderly and senile. In addition, the FSH receptor (FSHR) genotype AA rs6166 is associated with low bone mineral density, regardless of estrogen level. A polyclonal antibody with an FSHR-binding sequence against mouse β-subunit of FSH is likely to be an effective tool for reducing bone loss in mice subjected to ovariectomy. Conclusion: A comprehensive assessment of the hormonal profile in the elderly and senile is needed to identify the causes of osteoporosis and the formation of an individual program of medical diagnostic and rehabilitation measures. Currently, there are all prerequisites for the development of new diagnostic and therapeutic interventions for the correction of low bone density.
骨质疏松症越来越多地出现在老年人和老年人中,保持着巨大的医学和社会意义。激素对骨代谢的影响是毋庸置疑的。然而,目前关于性激素对骨组织影响的数据占主导地位。至于其他激素,有时,有相互矛盾的意见。研究目的:基于已发表的数据,研究内分泌系统对老年人骨质疏松症发展的贡献。材料与方法:在计算机数据库PubMed、Scopus、Medical- Science、library、Web of Science、Ceeol中检索1998-2020年的骨质疏松症、骨密度、FSH、雌激素、睾酮、皮质醇、维生素D、IGF1等文献资料进行分析。结果:文献分析显示,促甲状腺激素(TSH)水平升高具有保护骨的作用;雌激素、睾酮、胰岛素样生长因子1 (IGF1)和维生素D水平的下降,以及皮质醇、甲状旁腺激素和促卵泡激素(FSH)水平的升高,都是导致老年人骨质流失的原因。此外,FSH受体(FSHR)基因型AA rs6166与低骨密度相关,与雌激素水平无关。一种具有FSH结合序列的抗小鼠FSH β-亚基的多克隆抗体可能是减少卵巢切除术小鼠骨质流失的有效工具。结论:需要对老年人和老年人的激素水平进行综合评估,以确定骨质疏松症的原因,并形成个性化的医疗诊断和康复措施方案。目前,开发新的诊断和治疗干预措施来矫正低骨密度是有先决条件的。
{"title":"The contribution of the endocrine system to the development of osteoporosis in the elderly and senile (review)","authors":"S. Bulgakova, D. P. Kurmaev, M. Silyutina, E. Voronina, T. E. Nichik","doi":"10.18413/2658-6533-2021-7-3-0-9","DOIUrl":"https://doi.org/10.18413/2658-6533-2021-7-3-0-9","url":null,"abstract":"Osteoporosis is increasingly found in the elderly and senile, maintaining its enormous medical and social significance. The effect of hormones on bone metabolism is beyond doubt. However, currently the data on the effect of sex hormones on bone tissue prevails. As for the other hormones, sometimes, there are conflicting opinions. The aim of the study: Based on published data, to study the contribution of the endocrine system to the development of osteoporosis in the elderly. Materials and methods: Literature data was analyzed using the following search words: osteoporosis, bone mineral density, FSH, estrogens, testosterone, cortisol, vitamin D, IGF1 for 1998-2020 in computer databases PubMed, Scopus, Medical- Science, Elibrary, Web of Science, Ceeol. Results: Analysis of the literature showed that the increase of levels of thyroid stimulating hormone (TSH) plays an osteoprotective role; the decrease of levels of estrogen, testosterone, insulin-like growth factor 1 (IGF1) and vitamin D, as well as the increase in the levels of cortisol, parathyroid hormone and follicle-stimulating hormone (FSH) contribute to bone loss in the elderly and senile. In addition, the FSH receptor (FSHR) genotype AA rs6166 is associated with low bone mineral density, regardless of estrogen level. A polyclonal antibody with an FSHR-binding sequence against mouse β-subunit of FSH is likely to be an effective tool for reducing bone loss in mice subjected to ovariectomy. Conclusion: A comprehensive assessment of the hormonal profile in the elderly and senile is needed to identify the causes of osteoporosis and the formation of an individual program of medical diagnostic and rehabilitation measures. Currently, there are all prerequisites for the development of new diagnostic and therapeutic interventions for the correction of low bone density.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74865362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Senile mouth as a component of geriatric status 老年口作为老年状态的一个组成部分
Pub Date : 2021-09-30 DOI: 10.18413/2658-6533-2021-7-3-0-8
V. A. Borozentseva, V. Y. Borozentsev, I. P. Pochitaeva, O. Rozhdestvenskaya, T. V. Evdokimova
According to the literature, there is a high prevalence of the syndrome of senile asthenia (frailty) among the elderly. This condition is associated with a number of physical, functional and biochemical changes in the body. The interrelationships of the senile mouth with the malnutrition syndrome are known, the associations with other geriatric syndromes are insufficiently studied. At the same time, early diagnosis of conditions and diseases as the risk factors for the development of senile mouth is very important. The aim of the study: To study the role of the senile mouth in the formation of geriatric status. Materials and methods: In total, 570 elderly and senile people were included in the study (58 persons without adentia, 512 persons with adentia. The age of the patients ranged from 65 to 84 years. The groups of patients without adentia and with adentia were comparable in age and sex composition. Results: The study showed that the senile mouth is associated with the loss of 11 or more teeth in any variant of adentia, and with a smaller number of lost teeth – with the 1st and 4th classes of adentia according to E. Kennedy, while the ethiological causes of adentia do not have a significance in increasing the risk for developing of senile mouth. Cardiovascular pathology, type 2 diabetes mellitus and diseases of the musculoskeletal system increase the risk of developing the progression of the senile mouth. The senile mouth is associated with such geriatric syndromes as the syndrome of malnutrition and the risk of its development, dina/ sarcopenia, falls syndrome, depression, cognitive disorders and uncorrected sensory deficits. Conclusion: Senile mouth take place in the processes of formation of geriatric status in elderly patients. It is necessary to investigate the state of the dentition according to E. Kennedy. The patients with complete adentia, as well as with grades 1, 4 of adentia and its mixed forms are the groups of increased risk of frailty. It is also advisable to conduct a comprehensive geriatric assessment with targeted correction of the identified geriatric syndromes in people with senile mouth before and after dental intervention.
据文献报道,老年虚弱综合征在老年人中发病率很高。这种情况与身体的一些生理、功能和生化变化有关。老年性口腔与营养不良综合征的相互关系是已知的,但与其他老年综合征的关系研究不足。同时,早期诊断作为老年性口腔发育危险因素的病症和疾病是非常重要的。研究目的:探讨老年口在老年状态形成中的作用。材料与方法:共纳入老年人570例(无痴呆58例,有痴呆512例)。患者年龄65 ~ 84岁。无老年痴呆患者和有老年痴呆患者在年龄和性别构成上具有可比性。结果:研究表明,老年性口腔在任何一种类型的老年痴呆中都与丢失11颗或更多牙齿有关,并且与较少数量的牙齿有关-根据E. Kennedy的第1类和第4类老年痴呆,而老年痴呆的病理学原因对增加老年口腔发展的风险没有意义。心血管疾病、2型糖尿病和肌肉骨骼系统疾病会增加口腔衰老的风险。老年口与以下老年综合症有关,如营养不良综合症及其发展风险、dina/肌肉减少症、跌倒综合症、抑郁症、认知障碍和未纠正的感觉缺陷。结论:老年性口腔是在老年患者老年状态形成过程中发生的。根据肯尼迪的说法,有必要对牙齿的状况进行调查。完全性痴呆患者、1级、4级痴呆及其混合型痴呆患者是衰弱风险增加的人群。在牙科干预前后对老年性口腔患者进行全面的老年病学评估,有针对性地纠正已确定的老年综合征。
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引用次数: 2
The association study of polymorphic variants of hypothalamic-pituitary-adrenal system genes (AVPR1B, OXTR) and aggressive behavior manifestation: a focus on social environment 下丘脑-垂体-肾上腺系统基因(AVPR1B, OXTR)多态性变异与攻击行为表现的相关性研究:以社会环境为中心
Pub Date : 2021-09-30 DOI: 10.18413/2658-6533-2021-7-3-0-3
A. Kazantseva, J. D. Davydova, R. Enikeeva, R. Valinurov, A. Gareeva, N. N. Khusnutdinova, E. Khusnutdinova
Background: Aggressive behavior (AB) represents an important social problem, which results in significant costs for the society. A significant role in developing aggression is suggested to be mediated by molecular mechanisms related to the functioning of oxytocin (OXTR) and arginine vasopressin receptor (AVPR1B) genes involved in the regulation of social behavior. On the other hand, a specificity of environmental factors affecting an individual at various stages of development may modulate the molecular processes, especially at gene expression level, thus affecting human’s ability to self-control and resulting in AB manifestation. The aim of the study: Considering a multifactorial nature of developing aggression, the present study is aimed to estimate both the genetic- and haplotype-based effects of the OXTR and AVPR1B genes and gene-by-environment interactions in developing AB. Materials and methods: The genotyping of the OXTR (rs2228485, rs53576) and AVPR1B (rs33911258) gene variants was conducted via PCR with fluorescent detection in 189 criminal offenders (7% women) from the Republic of Bashkortostan, who committed murders, and the control group (N=254, 12% women) corresponding to the group of criminal offenders by ethnicity and age. Statistical analysis was performed via logistic regression with correction for multiple comparisons (PLINK v.1.09). Results: As a result of statistical analysis the association of rs2228485 A-allele and AG haplotype (rs2228485 and rs53576) in the OXTR gene with an enhanced risk for developing AB was observed. In addition, we demonstrated a modulating effect of such environmental factors as the presence of severe somatic diseases, alcohol addiction, fa milial history of psychopathologies, income and education level. Moreover, the effect of rs33911258 G-allele in the AVPR1B gene on AB was observed. Conclusion: The data obtained evidence that the examined variants in the AVPR1B and OXTR genes in combination with specific environmental factors may affect neuronal systems functioning, thus resulting in the manifestation of antisocial behavior.
背景:攻击行为是一个重要的社会问题,它给社会带来了巨大的代价。研究表明,与参与社会行为调节的催产素(OXTR)和精氨酸抗利尿激素受体(AVPR1B)基因的功能相关的分子机制,在攻击性的形成中起着重要作用。另一方面,影响个体不同发育阶段的环境因素的特异性可能会调节分子过程,特别是在基因表达水平上,从而影响人类的自我控制能力,导致AB的表现。研究目的:考虑到攻击发生的多因素性质,本研究旨在评估OXTR和AVPR1B基因的遗传和单倍型效应,以及基因-环境相互作用在AB发生中的作用。对巴什戈尔托斯坦共和国189名杀人罪犯(7%为女性)和按种族和年龄划分的犯罪群体对照组(N=254, 12%为女性)的OXTR (rs2228485、rss53576)和AVPR1B (rs33911258)基因变异进行荧光PCR分型。采用logistic回归进行统计分析,并对多重比较进行校正(PLINK v.1.09)。结果:通过统计分析发现,rs2228485 a等位基因和OXTR基因AG单倍型(rs2228485和rss53576)与AB发生风险增加相关。此外,我们还证明了严重躯体疾病、酒精成瘾、精神病理家族史、收入和教育水平等环境因素的调节作用。此外,还观察了AVPR1B基因中rs33911258 g等位基因对AB的影响。结论:数据表明,所检测的AVPR1B和OXTR基因变异与特定环境因素结合可能影响神经系统功能,从而导致反社会行为的表现。
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引用次数: 2
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