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Prognostic value of morphological, biochemical, molecular markers of fibrosis in patients with hypertrophic cardiomyopathy 肥厚型心肌病患者纤维化的形态学、生化和分子标记物的预后价值
Q3 Social Sciences Pub Date : 2024-02-07 DOI: 10.15829/1728-8800-2023-3839
G. A. Burnasheva, R. Myasnikov, O. Kulikova, M. Kudryavtseva, E. Mershina, O. Drapkina
Hypertrophic cardiomyopathy (HCM) at the cellular level is characterized by hypertrophy, cardiomyocyte disorganization and myocardial fibrosis areas. The leading death cause in HCM remains sudden cardiac death (SCD). Despite the existing risk scores for SCD in HCM, there are still patients with uncertain SCD risk. In addition, SCD cases are also recorded among low-risk patients. From the above, search for novel markers for a more accurate risk assessment should be continued. Fibrosis is currently suspected to be a substrate of potentially life-threatening ventricular arrhythmias. Despite the increasingly widespread use of cardiac magnetic resonance imaging in the diagnosis of myocardial fibrosis and stratification of patients at high SCD risk, the determination of myocardial fibrosis biomarkers remains a relevant and promising area. The article presents the results of studies proving the diagnostic significance and relationship with the risk of life-threatening cardiac arrhythmias of the following markers: C-propeptide of type I procollagen, matrix metalloproteinase proteins, tissue inhibitor of metalloproteinases 1, microRNA family, soluble suppression of tumorigenicity 2, galectin-3, apelin. Evaluation of these biomarkers can be used to improve risk stratification of patients with HCM.
肥厚型心肌病(HCM)在细胞水平上的特征是心肌肥厚、心肌细胞紊乱和心肌纤维化区域。HCM 的主要死因仍然是心脏性猝死(SCD)。尽管已有针对 HCM SCD 的风险评分,但仍有患者存在不确定的 SCD 风险。此外,低风险患者中也有 SCD 病例。综上所述,应继续寻找新的标记物以进行更准确的风险评估。纤维化目前被怀疑是可能危及生命的室性心律失常的基质。尽管心脏磁共振成像在诊断心肌纤维化和对 SCD 高危患者进行分层方面的应用越来越广泛,但心肌纤维化生物标志物的测定仍是一个相关且前景广阔的领域。文章介绍了证明以下标志物的诊断意义及其与危及生命的心律失常风险之间关系的研究结果:I 型胶原蛋白的 C-肽、基质金属蛋白酶蛋白、金属蛋白酶组织抑制剂 1、微 RNA 家族、可溶性抑制肿瘤生成素 2、galectin-3、apelin。对这些生物标志物的评估可用于改善 HCM 患者的风险分层。
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引用次数: 0
Socio-demographic characteristics and behavioral risk factors of the Vladimir region population 弗拉基米尔地区人口的社会人口特征和行为风险因素
Q3 Social Sciences Pub Date : 2024-02-07 DOI: 10.15829/1728-8800-2023-3778
M. Mamedov, L. T. Sushkova, R. V. Isakov, V. Kutsenko, O. Drapkina
Aim. To analyze socio-demographic characteristics and the prevalence of behavioral risk factors in the adult population of the Vladimir region, taking into account sex characteristics.Material and methods. This cross-sectional population-based study was organized in 5 cities of the Vladimir region (Vladimir, Kovrov, Murom, Yuryev-Polsky and Vyazniki) from May 2018 to March 2020. The study included 1350 men and women aged 30-69 years. The response rate was 87%. A total of 1174 people completed the study, of whom 424 (36.1%) were men and 750 (63.9%) were women. A total of 1174 people completed the study. Of these, 424 (36,1%) were men and 750 (63,9%) women. Respondents were surveyed using a standard questionnaire prepared by the National Medical Research Center for Therapy and Preventive Medicine, which included socio-demographic characteristics, behavioral risk factors, data on somatic diseases and medications taken.Results. Smoking prevalence among men was 38,4%, which was 4 times higher than in women (p=0,001). Walking <30 min/day, as a sign of a sedentary lifestyle, was detected in 41,3% of men, and among women in every third (33,2%, p=0,007). Every second man and woman during the survey reported insufficient consumption of vegetables and fruits. Adding salt to food was detected in 34,4% of men and 21,7% of women (p=0,001). Alcohol abuse rate among men was 12,5, while among women it was 2 times lower and amounted to 5,6% (p=0,001). The variability of these disorders was noted in different Vladimir region cities.Conclusion. In the analyzed random sample of adults from the Vladimir region, every second man and woman does not consume enough vegetables and fruits, while every third person leads a sedentary lifestyle. At the same time, there are 4 times more male smokers and 2 times more male alcohol abusers than females.
目的分析弗拉基米尔州成年人口的社会人口特征和行为风险因素的流行情况,同时考虑性别特征。这项以人口为基础的横断面研究于 2018 年 5 月至 2020 年 3 月在弗拉基米尔州的 5 个城市(弗拉基米尔、科夫罗夫、穆罗姆、尤里耶夫-波尔斯基和维亚兹尼基)组织进行。研究对象包括 1350 名 30-69 岁的男性和女性。回复率为 87%。共有 1174 人完成了研究,其中男性 424 人(占 36.1%),女性 750 人(占 63.9%)。共有 1174 人完成了研究。其中,男性 424 人(占 36.1%),女性 750 人(占 63.9%)。受访者接受了由国家治疗和预防医学研究中心编制的标准问卷调查,其中包括社会人口特征、行为风险因素、躯体疾病数据和服用的药物。男性吸烟率为38.4%,是女性的4倍(P=0.001)。41.3%的男性和三分之一的女性(33.2%,P=0.007)每天步行时间少于 30 分钟,这是久坐不动生活方式的一种表现。调查期间,每两名男性和女性中就有一人报告蔬菜和水果摄入量不足。34.4%的男性和 21.7%的女性在食物中添加盐(P=0.001)。男性酗酒率为 12.5%,而女性则低 2 倍,为 5.6%(P=0.001)。在弗拉基米尔地区的不同城市,这些疾病的发生率存在差异。在对弗拉基米尔州成年人的随机抽样分析中,每两名男性和女性中就有一人没有摄入足够的蔬菜和水果,每三人中就有一人过着久坐不动的生活方式。同时,男性吸烟者是女性的 4 倍,男性酗酒者是女性的 2 倍。
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引用次数: 0
Socio-demographic characteristics and behavioral risk factors of the Vladimir region population 弗拉基米尔地区人口的社会人口特征和行为风险因素
Q3 Social Sciences Pub Date : 2024-02-07 DOI: 10.15829/1728-8800-2023-3778
M. Mamedov, L. T. Sushkova, R. V. Isakov, V. Kutsenko, O. Drapkina
Aim. To analyze socio-demographic characteristics and the prevalence of behavioral risk factors in the adult population of the Vladimir region, taking into account sex characteristics.Material and methods. This cross-sectional population-based study was organized in 5 cities of the Vladimir region (Vladimir, Kovrov, Murom, Yuryev-Polsky and Vyazniki) from May 2018 to March 2020. The study included 1350 men and women aged 30-69 years. The response rate was 87%. A total of 1174 people completed the study, of whom 424 (36.1%) were men and 750 (63.9%) were women. A total of 1174 people completed the study. Of these, 424 (36,1%) were men and 750 (63,9%) women. Respondents were surveyed using a standard questionnaire prepared by the National Medical Research Center for Therapy and Preventive Medicine, which included socio-demographic characteristics, behavioral risk factors, data on somatic diseases and medications taken.Results. Smoking prevalence among men was 38,4%, which was 4 times higher than in women (p=0,001). Walking <30 min/day, as a sign of a sedentary lifestyle, was detected in 41,3% of men, and among women in every third (33,2%, p=0,007). Every second man and woman during the survey reported insufficient consumption of vegetables and fruits. Adding salt to food was detected in 34,4% of men and 21,7% of women (p=0,001). Alcohol abuse rate among men was 12,5, while among women it was 2 times lower and amounted to 5,6% (p=0,001). The variability of these disorders was noted in different Vladimir region cities.Conclusion. In the analyzed random sample of adults from the Vladimir region, every second man and woman does not consume enough vegetables and fruits, while every third person leads a sedentary lifestyle. At the same time, there are 4 times more male smokers and 2 times more male alcohol abusers than females.
目的分析弗拉基米尔州成年人口的社会人口特征和行为风险因素的流行情况,同时考虑性别特征。这项以人口为基础的横断面研究于 2018 年 5 月至 2020 年 3 月在弗拉基米尔州的 5 个城市(弗拉基米尔、科夫罗夫、穆罗姆、尤里耶夫-波尔斯基和维亚兹尼基)组织进行。研究对象包括 1350 名 30-69 岁的男性和女性。回复率为 87%。共有 1174 人完成了研究,其中男性 424 人(占 36.1%),女性 750 人(占 63.9%)。共有 1174 人完成了研究。其中,男性 424 人(占 36.1%),女性 750 人(占 63.9%)。受访者使用国家治疗和预防医学研究中心编制的标准问卷进行调查,问卷内容包括社会人口特征、行为风险因素、躯体疾病数据和服用药物情况。男性吸烟率为38.4%,是女性的4倍(P=0.001)。41.3%的男性和三分之一的女性(33.2%,P=0.007)每天步行时间少于 30 分钟,这是久坐不动生活方式的一种表现。调查期间,每两名男性和女性中就有一人报告蔬菜和水果摄入量不足。34.4%的男性和 21.7%的女性在食物中添加盐(P=0.001)。男性酗酒率为 12.5%,而女性则低 2 倍,为 5.6%(P=0.001)。在弗拉基米尔地区的不同城市,这些疾病的发生率存在差异。在对弗拉基米尔州成年人的随机抽样分析中,每两名男性和女性中就有一人没有摄入足够的蔬菜和水果,每三人中就有一人过着久坐不动的生活方式。同时,男性吸烟者是女性的 4 倍,男性酗酒者是女性的 2 倍。
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引用次数: 0
Gender characteristics of the prevalence of noncommunicable diseases in the adult population of the Vladimir region 弗拉基米尔地区成人非传染性疾病发病率的性别特征
Q3 Social Sciences Pub Date : 2024-02-07 DOI: 10.15829/1728-8800-2023-3779
M. Mamedov, L. T. Sushkova, R. V. Isakov, V. Kutsenko, O. Drapkina
Aim. To assess the prevalence of major noncommunicable diseases (NCDs) taking into account gender characteristics in a random sample of adults in 5 cities of the Vladimir region.Material and methods. This cross-sectional population-based study (May 2018 — March 2020) included 1350 people (men and women aged 30-69 years) from 5 cities of the Vladimir region. The response rate was 87%. A total of 1174 people completed the study. Of these, 424 (36,1%) were men and 750 (63,9%) women. Respondents were surveyed using a standard questionnaire prepared by the National Medical Research Center for Therapy and Preventive Medicine, which included socio-demographic characteristics, behavioral risk factors, data on somatic diseases and medications taken.Results. The prevalence of coronary artery disease among men was 14,1%, among women — 9,5% (p=0,016). In men, the second most common disease is chronic obstructive pulmonary disease (COPD), which was 2,5 times more common than in women — 10,6 and 4,5%, respectively (p=0,001). Among women, the second most common disease was type 2 diabetes (T2D), accounting for 7,6%. Cerebrovascular diseases occupy fourth place in the NCD structure. Their prevalence was 6,1% among men and 4,4% among women. Cancer diseases were less common than other chronic diseases without sex differences — 2,8 and 3,1%, respectively. In certain cities, the prevalence of NCDs varied. Every third man and fourth women had a positive family history for cardiovascular diseases (CVDs) (p=0,005). About 20% of men reported a positive family history for COPD, while among women this figure was 2 times lower (p=0,001). Men and women were comparable in terms a family history for T2D — 10,4 and 12,5%, respectively. A positive family history for tumors of various locations was recorded in ~5%.Conclusion. In the adult working-age population of the Vladimir region, atherosclerosis-related CVDs was identified in 17% of cases. The incidence of T2D and COPD in the adult population was approximately the same and amounted to >7%. The prevalence of cancer was 3%. Sex differences were identified in the prevalence of coronary artery disease and COPD.
目的评估弗拉基米尔州 5 个城市成人随机抽样中主要非传染性疾病(NCD)的患病率,同时考虑到性别特征。这项基于人口的横断面研究(2018 年 5 月至 2020 年 3 月)纳入了弗拉基米尔州 5 个城市的 1350 人(男性和女性,年龄在 30-69 岁之间)。回复率为 87%。共有 1174 人完成了研究。其中,男性 424 人(占 36.1%),女性 750 人(占 63.9%)。受访者使用国家治疗和预防医学研究中心编制的标准问卷进行调查,问卷内容包括社会人口特征、行为风险因素、躯体疾病数据和服用药物情况。男性冠心病发病率为 14.1%,女性为 9.5%(P=0.016)。男性的第二大常见疾病是慢性阻塞性肺病(COPD),其发病率是女性的 2.5 倍,分别为 10.6%和 4.5%(P=0.001)。在女性中,第二大常见疾病是 2 型糖尿病(T2D),占 7.6%。脑血管疾病在非传染性疾病结构中占第四位。男性的发病率为 6.1%,女性为 4.4%。癌症的发病率低于其他慢性疾病,但没有性别差异--分别为 2.8%和 3.1%。在某些城市,非传染性疾病的发病率各不相同。每三分之一的男性和四分之一的女性都有阳性的心血管疾病(CVDs)家族史(p=0,005)。约 20% 的男性报告有慢性阻塞性肺病的阳性家族史,而女性的这一数字要低 2 倍(p=0,001)。男性和女性的 T2D 家族史比例相当,分别为 10.4% 和 12.5%。约有 5%的人有不同部位肿瘤的阳性家族史。在弗拉基米尔地区的成年劳动适龄人口中,17%的病例与动脉粥样硬化相关。在成年人群中,T2D 和 COPD 的发病率大致相同,均超过 7%。癌症发病率为 3%。冠心病和慢性阻塞性肺病的发病率存在性别差异。
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引用次数: 0
Qualitative research methods in studying the problems of adult population vaccination: relevance and design 研究成人疫苗接种问题的定性研究方法:相关性与设计
Q3 Social Sciences Pub Date : 2024-02-07 DOI: 10.15829/1728-8800-2023-3833
M. Lopatina, E. A. Krieger, A. V. Kudryavtsev, V. A. Yakovleva, T. R. Nizovtseva, А. V. Kontsevaya, O. Drapkina
Vaccination is an effective tool to control infectious diseases at the population level. There is an increase in the proportion of the adult population vulnerable to controlled infections, which is confirmed by the emergence of disease outbreaks involving population aged >18 years. Qualitative research methods are used to explore factors influencing vaccination behavior.Aim. To develop and present a qualitative study design to study barriers and drivers for vaccination in adults.Material and methods. The World Health Organization (WHO) approach of Tailoring Immunization Programs (TIP), Capability-Opportunity-Motivation-Behavior (COM-B) tool, developed by the WHO and adapted in several countries to study vaccination issues, and the Rapid Assessment Process method were chosen and adapted for conducting a study in three Russian regions. The qualitative methods selected are focus groups and in-depth personal interviews in two target groups of adults and medical workers. A purposive sampling method will be used to select population participants aged ≥18 years.Results. A qualitative research design was developed, including the following steps: selecting target populations, developing a discussion plan, training the analytical group, testing the methodology and questions in the target groups, collecting and analyzing data, developing recommendations and interventions.Conclusion. Qualitative research methods are preferable for identifying vaccination barriers and drivers. Based on the results obtained, an educational program for health workers will be developed, including communicating approaches to be used with patients when discussing vaccination matters.The qualitative research design developed and presented can be used by researchers, public health professionals, and decision-makers to study vaccination behavior among adults.
疫苗接种是在人口层面控制传染病的有效工具。易受控制传染病影响的成年人口比例正在增加,这一点从年龄大于 18 岁的人口中爆发的疾病中可以得到证实。采用定性研究方法探讨影响疫苗接种行为的因素。开发并介绍一种定性研究设计,以研究成人接种疫苗的障碍和驱动因素。为在俄罗斯三个地区开展研究,选择并调整了世界卫生组织(WHO)的 "免疫计划定制"(TIP)方法、由世界卫生组织开发并在多个国家用于研究疫苗接种问题的 "能力-机会-动机-行为"(COM-B)工具以及 "快速评估过程 "方法。选择的定性方法是焦点小组和对成年人和医务工作者两个目标群体的深入个人访谈。将采用有目的的抽样方法来选择年龄≥18 岁的参与者。定性研究设计包括以下步骤:选择目标人群、制定讨论计划、培训分析小组、在目标人群中测试方法和问题、收集和分析数据、制定建议和干预措施。定性研究方法是确定疫苗接种障碍和驱动因素的首选方法。研究人员、公共卫生专业人员和决策者可利用所开发和介绍的定性研究设计来研究成年人的疫苗接种行为。
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引用次数: 0
Qualitative research methods in studying the problems of adult population vaccination: relevance and design 研究成人疫苗接种问题的定性研究方法:相关性与设计
Q3 Social Sciences Pub Date : 2024-02-07 DOI: 10.15829/1728-8800-2023-3833
M. Lopatina, E. A. Krieger, A. V. Kudryavtsev, V. A. Yakovleva, T. R. Nizovtseva, А. V. Kontsevaya, O. Drapkina
Vaccination is an effective tool to control infectious diseases at the population level. There is an increase in the proportion of the adult population vulnerable to controlled infections, which is confirmed by the emergence of disease outbreaks involving population aged >18 years. Qualitative research methods are used to explore factors influencing vaccination behavior.Aim. To develop and present a qualitative study design to study barriers and drivers for vaccination in adults.Material and methods. The World Health Organization (WHO) approach of Tailoring Immunization Programs (TIP), Capability-Opportunity-Motivation-Behavior (COM-B) tool, developed by the WHO and adapted in several countries to study vaccination issues, and the Rapid Assessment Process method were chosen and adapted for conducting a study in three Russian regions. The qualitative methods selected are focus groups and in-depth personal interviews in two target groups of adults and medical workers. A purposive sampling method will be used to select population participants aged ≥18 years.Results. A qualitative research design was developed, including the following steps: selecting target populations, developing a discussion plan, training the analytical group, testing the methodology and questions in the target groups, collecting and analyzing data, developing recommendations and interventions.Conclusion. Qualitative research methods are preferable for identifying vaccination barriers and drivers. Based on the results obtained, an educational program for health workers will be developed, including communicating approaches to be used with patients when discussing vaccination matters.The qualitative research design developed and presented can be used by researchers, public health professionals, and decision-makers to study vaccination behavior among adults.
疫苗接种是在人口层面控制传染病的有效工具。易受控制传染病影响的成年人口比例正在增加,这一点从年龄大于 18 岁的人口中爆发的疾病中可以得到证实。采用定性研究方法探讨影响疫苗接种行为的因素。开发并介绍一种定性研究设计,以研究成人接种疫苗的障碍和驱动因素。为在俄罗斯三个地区开展研究,选择并调整了世界卫生组织(WHO)的 "免疫计划定制"(TIP)方法、由世界卫生组织开发并在多个国家用于研究疫苗接种问题的 "能力-机会-动机-行为"(COM-B)工具以及 "快速评估过程 "方法。选择的定性方法是焦点小组和对成年人和医务工作者两个目标群体的深入个人访谈。将采用有目的的抽样方法来选择年龄≥18 岁的参与者。定性研究设计包括以下步骤:选择目标人群、制定讨论计划、培训分析小组、在目标人群中测试方法和问题、收集和分析数据、制定建议和干预措施。定性研究方法是确定疫苗接种障碍和驱动因素的首选方法。研究人员、公共卫生专业人员和决策者可利用所开发和介绍的定性研究设计来研究成年人的疫苗接种行为。
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引用次数: 0
Prognostic value of morphological, biochemical, molecular markers of fibrosis in patients with hypertrophic cardiomyopathy 肥厚型心肌病患者纤维化的形态学、生化和分子标记物的预后价值
Q3 Social Sciences Pub Date : 2024-02-07 DOI: 10.15829/1728-8800-2023-3839
G. A. Burnasheva, R. Myasnikov, O. Kulikova, M. Kudryavtseva, E. Mershina, O. Drapkina
Hypertrophic cardiomyopathy (HCM) at the cellular level is characterized by hypertrophy, cardiomyocyte disorganization and myocardial fibrosis areas. The leading death cause in HCM remains sudden cardiac death (SCD). Despite the existing risk scores for SCD in HCM, there are still patients with uncertain SCD risk. In addition, SCD cases are also recorded among low-risk patients. From the above, search for novel markers for a more accurate risk assessment should be continued. Fibrosis is currently suspected to be a substrate of potentially life-threatening ventricular arrhythmias. Despite the increasingly widespread use of cardiac magnetic resonance imaging in the diagnosis of myocardial fibrosis and stratification of patients at high SCD risk, the determination of myocardial fibrosis biomarkers remains a relevant and promising area. The article presents the results of studies proving the diagnostic significance and relationship with the risk of life-threatening cardiac arrhythmias of the following markers: C-propeptide of type I procollagen, matrix metalloproteinase proteins, tissue inhibitor of metalloproteinases 1, microRNA family, soluble suppression of tumorigenicity 2, galectin-3, apelin. Evaluation of these biomarkers can be used to improve risk stratification of patients with HCM.
肥厚型心肌病(HCM)在细胞水平上的特征是心肌肥厚、心肌细胞紊乱和心肌纤维化区域。HCM 的主要死因仍然是心脏性猝死(SCD)。尽管已有针对 HCM SCD 的风险评分,但仍有患者存在不确定的 SCD 风险。此外,低风险患者中也有 SCD 病例。综上所述,应继续寻找新的标记物以进行更准确的风险评估。纤维化目前被怀疑是可能危及生命的室性心律失常的基质。尽管心脏磁共振成像在诊断心肌纤维化和对 SCD 高危患者进行分层方面的应用越来越广泛,但心肌纤维化生物标志物的测定仍是一个相关且前景广阔的领域。文章介绍了证明以下标志物的诊断意义及其与危及生命的心律失常风险之间关系的研究结果:I 型胶原蛋白的 C-肽、基质金属蛋白酶蛋白、金属蛋白酶组织抑制剂 1、微 RNA 家族、可溶性抑制肿瘤生成素 2、galectin-3、apelin。对这些生物标志物的评估可用于改善 HCM 患者的风险分层。
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引用次数: 0
Validation of genetic risk scores for hypertension in the Central Russian population 验证俄罗斯中部人口的高血压遗传风险评分
Q3 Social Sciences Pub Date : 2024-02-07 DOI: 10.15829/1728-8800-2023-3801
A. Limonova, A. Ershova, A. Kiseleva, V. Kutsenko, V. Ramensky, Yu.V. Vyatkin, E. Sotnikova, A. Zharikova, M. Zaichenoka, M. S. Pokrovskaya, S. Shalnova, A. N. Meshkov, O. Drapkina
Aim. To validate and evaluate the accuracy of 4 genetic risk scores (GRSs) for hypertension (HTN), previously created on European samples, on a population sample of the Ivanovo Oblast.Material and methods. For genetic analysis, targeted next-generation sequencing was used on a sample of the Central Russia (n=1682) based on the biobank collection. Four GRSs associated with HTN, previously developed for the European population, were selected for validation. The coefficient of determination and the area under the ROC curve were used as quality metrics for regression models. Additional validation was carried out to include all nucleotide sequence variants, regardless of linkage disequilibrium level. A combined GRS was compiled based on coefficients from individual GRSs using the clumping + thresholding (C+T) method.Results. The study demonstrated that the predictive value of previously developed GRSs when used for Central Russian population is lower than in the original studies. The proportion of explained variance was 0,5-0,8%. The best predictive ability (proportion of explained variance — 2,5%) was demonstrated using previously developed GRSs (Evangelou E, et al., 2018), which includes the largest number of nucleotide sequence variants (n=852).Conclusion. GRSs for HTN, developed on European samples, is not recommended for Russian population without preliminary validation. To create original GRSs, combining statistical parameters (β-coefficients and p-value) from different GRS is not recommended.
目的在伊万诺沃州的人口样本中验证和评估之前在欧洲样本中创建的 4 种高血压遗传风险评分(GRS)的准确性。为了进行基因分析,在生物库收集的俄罗斯中部样本(n=1682)上使用了有针对性的下一代测序。选择了以前为欧洲人群开发的与高血压相关的四个基因序列进行验证。测定系数和 ROC 曲线下面积被用作回归模型的质量指标。还进行了额外的验证,以包括所有核苷酸序列变异,而不考虑连锁不平衡水平。根据单个 GRS 的系数,使用聚类+阈值(C+T)方法编制了综合 GRS。研究结果表明,以前开发的基因序列用于俄罗斯中部人群时,其预测价值低于原始研究。解释方差的比例为 0.5-0.8%。先前开发的GRS(Evangelou E等人,2018年)显示了最佳预测能力(解释方差比例-2.5%),其中包括最多的核苷酸序列变异(n=852)。结论:在没有初步验证的情况下,不建议在俄罗斯人群中使用在欧洲样本上开发的高血压基因组序列。不建议将不同 GRS 的统计参数(β 系数和 p 值)结合起来创建原始 GRS。
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引用次数: 0
Gender characteristics of the prevalence of noncommunicable diseases in the adult population of the Vladimir region 弗拉基米尔地区成人非传染性疾病发病率的性别特征
Q3 Social Sciences Pub Date : 2024-02-07 DOI: 10.15829/1728-8800-2023-3779
M. Mamedov, L. T. Sushkova, R. V. Isakov, V. Kutsenko, O. Drapkina
Aim. To assess the prevalence of major noncommunicable diseases (NCDs) taking into account gender characteristics in a random sample of adults in 5 cities of the Vladimir region.Material and methods. This cross-sectional population-based study (May 2018 — March 2020) included 1350 people (men and women aged 30-69 years) from 5 cities of the Vladimir region. The response rate was 87%. A total of 1174 people completed the study. Of these, 424 (36,1%) were men and 750 (63,9%) women. Respondents were surveyed using a standard questionnaire prepared by the National Medical Research Center for Therapy and Preventive Medicine, which included socio-demographic characteristics, behavioral risk factors, data on somatic diseases and medications taken.Results. The prevalence of coronary artery disease among men was 14,1%, among women — 9,5% (p=0,016). In men, the second most common disease is chronic obstructive pulmonary disease (COPD), which was 2,5 times more common than in women — 10,6 and 4,5%, respectively (p=0,001). Among women, the second most common disease was type 2 diabetes (T2D), accounting for 7,6%. Cerebrovascular diseases occupy fourth place in the NCD structure. Their prevalence was 6,1% among men and 4,4% among women. Cancer diseases were less common than other chronic diseases without sex differences — 2,8 and 3,1%, respectively. In certain cities, the prevalence of NCDs varied. Every third man and fourth women had a positive family history for cardiovascular diseases (CVDs) (p=0,005). About 20% of men reported a positive family history for COPD, while among women this figure was 2 times lower (p=0,001). Men and women were comparable in terms a family history for T2D — 10,4 and 12,5%, respectively. A positive family history for tumors of various locations was recorded in ~5%.Conclusion. In the adult working-age population of the Vladimir region, atherosclerosis-related CVDs was identified in 17% of cases. The incidence of T2D and COPD in the adult population was approximately the same and amounted to >7%. The prevalence of cancer was 3%. Sex differences were identified in the prevalence of coronary artery disease and COPD.
目的评估弗拉基米尔州 5 个城市成人随机抽样中主要非传染性疾病(NCD)的患病率,同时考虑到性别特征。这项基于人口的横断面研究(2018 年 5 月至 2020 年 3 月)纳入了弗拉基米尔州 5 个城市的 1350 人(男性和女性,年龄在 30-69 岁之间)。回复率为 87%。共有 1174 人完成了研究。其中,男性 424 人(占 36.1%),女性 750 人(占 63.9%)。受访者使用国家治疗和预防医学研究中心编制的标准问卷进行调查,问卷内容包括社会人口特征、行为风险因素、躯体疾病数据和服用药物情况。男性冠心病发病率为 14.1%,女性为 9.5%(P=0.016)。男性的第二大常见疾病是慢性阻塞性肺病(COPD),其发病率是女性的 2.5 倍,分别为 10.6%和 4.5%(P=0.001)。在女性中,第二大常见疾病是 2 型糖尿病(T2D),占 7.6%。脑血管疾病在非传染性疾病结构中占第四位。男性的发病率为 6.1%,女性为 4.4%。癌症的发病率低于其他慢性疾病,但没有性别差异--分别为 2.8%和 3.1%。在某些城市,非传染性疾病的发病率各不相同。每三分之一的男性和四分之一的女性都有阳性的心血管疾病(CVDs)家族史(p=0,005)。约 20% 的男性报告有慢性阻塞性肺病的阳性家族史,而女性的这一数字要低 2 倍(p=0,001)。男性和女性的 T2D 家族史比例相当,分别为 10.4% 和 12.5%。约有 5%的人有不同部位肿瘤的阳性家族史。在弗拉基米尔地区的成年劳动适龄人口中,17%的病例与动脉粥样硬化相关。在成年人群中,T2D 和 COPD 的发病率大致相同,均超过 7%。癌症发病率为 3%。冠心病和慢性阻塞性肺病的发病率存在性别差异。
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引用次数: 0
Genetic aspects of decreased low-density lipoprotein cholesterol values 低密度脂蛋白胆固醇值降低的遗传因素
Q3 Social Sciences Pub Date : 2024-02-07 DOI: 10.15829/1728-8800-2023-3846
A. N. Meshkov, A. Ershova, A. Kiseleva, V. I. Mikhailina, S. Smetnev, А. G. Soplenkova, V. Kutsenko, Е. A. Sotnikova, Yu.V. Vyatkin, A. Zharikova, M. Zaichenoka, V. Ramensky, O. Skirko, M. S. Pokrovskaya, O. А. Litinskaya, S. Shalnova, O. Drapkina
Aim. To study genetic causes of decreased low-density lipoprotein cholesterol (LDL-C) in Russian patients.Material and methods. The study included the following Epidemiology of Cardiovascular Diseases and their Risk Factors in Regions of Russian Federation (ESSE-RF) participants: individuals with LDL-C<5th percentile, taking into account sex and age (n=52), who underwent targeted sequencing of protein-coding regions of 6 genes (APOB, PCSK9, MTTP, ANGPTL3, SAR1B, APOC3) and determination of the genetic risk score (GRS) for hypercholesterolemia; and a representative sample of the Ivanovo region population (ESSEIvanovo, n=1667), for which only GRS was determined. Genetic testing was performed using next generation sequencing.Results. In 10 (19,2%) of 52 participants with decreased LDL-C levels, the following rare variants potentially associated with hypocholesterolemia were identified: 8 — leading to a premature termination codon in the APOB gene, 1 — leading to a premature termination codon in the APOC3 gene and 1 missense variant in the PCSK9 gene. Of the 10 identified variants, 6 are described by us for the first time. GRS in the LDL-C group (0,27±0,25) was significantly lower than in the ESSE-Ivanovo population sample (0,43±0,27) (p=4,7×10-06).Conclusion. Genetic reasons explain decreased LDL-C levels (<5th percentile) in 32,7% of patients, of which only monogenic variants were identified in 13,5%, a combination of monogenic and polygenic hypocholesterolemia — in 5,7%, and polygenic hypocholesterolemia — in 13,5%.
目的:研究俄罗斯患者低密度脂蛋白胆固醇(LDL-C)降低的遗传原因。研究俄罗斯患者低密度脂蛋白胆固醇(LDL-C)降低的遗传原因。研究包括以下俄罗斯联邦地区心血管疾病流行病学及其风险因素(ESSE-RF)参与者:考虑到性别和年龄,低密度脂蛋白胆固醇(LDL-C)<第5百分位数的个体(n=52),他们接受了6个基因(APOB、PCSK9、MTTP、ANGPTL3、SAR1B、APOC3)蛋白质编码区的定向测序,并确定了高胆固醇血症的遗传风险评分(GRS);以及伊万诺沃地区人口的代表性样本(ESSEIvanovo,n=1667),只确定了GRS。基因检测采用新一代测序技术。在 52 名低密度脂蛋白胆固醇水平下降的参与者中,有 10 人(19.2%)发现了以下可能与低胆固醇血症有关的罕见变异:8个变异导致APOB基因中的一个提前终止密码子,1个导致APOC3基因中的一个提前终止密码子,1个PCSK9基因中的错义变异。在这 10 个已发现的变异中,有 6 个是我们首次描述的。低密度脂蛋白胆固醇组的GRS(0.27±0.25)明显低于ESSE-Ivanovo人群样本(0.43±0.27)(P=4.7×10-06)。32.7%的患者的低密度脂蛋白胆固醇水平下降(<第5百分位数)是由遗传因素造成的,其中13.5%的患者为单基因变异,5.7%的患者为单基因和多基因低胆固醇血症组合,13.5%的患者为多基因低胆固醇血症。
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引用次数: 0
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Cardiovascular Therapy and Prevention
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