Spanish population

西班牙人口
  • 文章类型: Journal Article
    在这项研究中,我们分析了35-75岁西班牙人群中体力活动和久坐的生活方式与血管衰老之间的关系。
    开展了一项横断面研究,招募了501名35-75岁的受试者。用加速度计(ActigraphGTX3)测量一周的体力活动和久坐时间。我们通过SphygmoCor®设备测量了颈动脉-股动脉脉搏波速度(cfPWV),并通过超声(SonositeMicromax®)测量了颈动脉内中膜厚度(cIMT)。如文献中所述计算血管老化指数(VAI)。根据cfPWV和VAI的年龄和性别,考虑第25和第75百分位数定义血管老化,血管损伤的存在,2型糖尿病或动脉高血压。个人分为三组:健康,正常,和早期血管老化。
    样本的平均年龄为55.90±14.24岁,50%是女性。总体力活动与cfPWV(β=-0.454)和VAI(β=-1.845)呈负相关。同样,每天的步数与cfPWV(β=-0.052)和VAI(β=-0.216)呈负相关,静坐时间与cfPWV(β=0.028)和VAI(β=0.117)呈正相关。在性别分析中,结果显示类似的值。对于cfPWV,分类为早期血管衰老(EVA)的受试者与分类为健康血管衰老(HVA)的受试者的总体力活动的比值比(OR)为0.521(95%置信区间[CI]0.317至0.856),VAI为0.565(95%CI0.324至0.986)。就每天的步数而言,cfPWV的OR为0.931(95%CI0.875~0.992),VAI的OR为0.916(95%CI0.847~0.990),静坐时间cfPWV的OR为1.042(95%CI1.011~1.073),VAI的OR为1.037(95%CI1.003~1.072).使用cfPWV分类为剧烈体力活动的受试者的OR为0.196(95%CI0.041至0.941),使用VAI分类为0.161(95%CI0.032至0.820)。在性别分析中,结果显示,当使用cfPWV时,男性与VAI定义血管老化时,女性与CFPWV相关.
    这项研究的结果表明,进行体育锻炼的时间越多,久坐的时间越少,动脉僵硬度越低,发生早期血管老化的概率越低。
    该研究已在ClinicalTrials.gov上注册(编号:NCT02623894)。
    UNASSIGNED: In this study we analyzed the association between physical activity and sedentary lifestyle with vascular aging in Spanish populations aged 35-75 years.
    UNASSIGNED: A cross-sectional study was developed, in which 501 subjects aged 35-75 years were recruited. Physical activity and sedentary time were measured with an accelerometer (Actigraph GTX3) for a week. We measured carotid-femoral pulse wave velocity (cfPWV) by a Sphygmo Cor® device and carotid intima-media thickness (cIMT) by ultrasound (Sonosite Micromax®). The vascular aging index (VAI) was calculated as described in the literature. Vascular aging was defined considering the 25th and 75th percentiles by age and sex of cfPWV and VAI, presence of vascular injury, type-2 diabetes mellitus or arterial hypertension. Individuals were classified into three groups: healthy, normal, and early vascular aging.
    UNASSIGNED: The mean age of the sample was 55.90 ± 14.24 years, 50% being women. Total physical activity was negatively associated with cfPWV ( β = -0.454) and VAI ( β = -1.845). Similarly, the number of steps per day obtained a negative association with cfPWV ( β = -0.052) and VAI ( β = -0.216), while sedentary time showed a positive association with cfPWV ( β = 0.028) and VAI ( β = 0.117). In the analysis by sex, the results showed similar values. The odds ratio (OR) of total physical activity of subjects classified as early vascular aging (EVA) with regarding those classified as healthy vascular aging (HVA) was 0.521 (95% confidence interval [CI] 0.317 to 0.856) for cfPWV, and 0.565 (95% CI 0.324 to 0.986) for VAI. In terms of the number of steps per day, the OR was 0.931 (95% CI 0.875 to 0.992) for cfPWV and 0.916 (95% CI 0.847 to 0.990) for VAI and for sedentary time the OR was 1.042 (95% CI 1.011 to 1.073) for cfPWV and 1.037 (95% CI 1.003 to 1.072) for VAI. The OR of subjects classified as vigorous physical activity was 0.196 (95% CI 0.041 to 0.941) using cfPWV and 0.161 (95% CI 0.032 to 0.820) using VAI. In the analysis by sex, the results showed an association in men when cfPWV was used and an association in women when VAI was used to define vascular aging.
    UNASSIGNED: The results of this study indicate that the more time spent performing physical activity and the less sedentary time, the lower the arterial stiffness and the probability of developing early vascular aging.
    UNASSIGNED: The study was registered in ClinicalTrials.gov (number: NCT02623894).
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    习惯代表随着时间的推移重复的行为模式,对个体健康产生重大影响。虽然存在衡量个人习惯的特定工具,能够同时探索多个健康维度的仪器数量有限。这项研究有两个主要目标:1)检查文献,以找到评估健康习惯的现有工具,特别是在西班牙人口中;2)通过方法学审查,开发和验证能够测量多个维度的健康习惯的工具。营养和社会健康习惯量表(NutSo-HH)的构思,tested,并通过认知访谈和专家内容验证的试点测试进行完善。通过验证性因子分析和已知群体效度来探索结构效度,而与“西班牙人口健康营养指数”相比,验证了标准的有效性。使用欧米茄系数评估可靠性。验证性因子分析产生了令人满意的拟合指数。最终的模型包括两个二级因素(营养习惯和健康习惯)和两个一级因素(地中海饮食和饮酒)。Omega系数范围为0.521至0.815。NutSo-HH量表是评估西班牙年轻人营养和社会习惯的有效且可靠的工具。这种新颖的仪器填补了该领域的空白,允许通过单一尺度探索各种健康决定因素,并为公共卫生营养领域的决策提供支持。
    Habits represent repeated patterns of behavior over time that exert a significant influence on individual health. While specific tools exist to measure individual habits, the number of instruments capable of simultaneously exploring multiple dimensions of health is limited. This research had two main objectives: 1) to examine the literature to find existing tools for evaluating health habits, especially in the Spanish population; 2) through a methodological review, to develop and validate a tool capable of measuring multiple dimensions of health habits. The Nutritional and Social Health Habits Scale (NutSo-HH) was conceived, tested, and refined through pilot testing with cognitive interviews and expert content validation. Construct validity was explored through confirmatory factor analysis and known-group validity, while criterion validity was verified in comparison with the ``Healthy Nutrition Index for the Spanish Population.\'\' Reliability was assessed using omega coefficients. Confirmatory factor analysis yielded satisfactory fit indices. The final model included two second-order factors (nutritional habits and health habits) and two first-order factors (Mediterranean diet and alcohol consumption). Omega coefficients ranged from 0.521 to 0.815. The NutSo-HH Scale emerges as a valid and reliable tool to assess nutritional and social habits among Spanish young adults. This novel instrument fills a gap in the field, allowing exploration of various health determinants through a single scale and providing support for decision-making in the realm of public health nutrition.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    指纹的个性和持久性使它们成为识别个体的非常有用的特征。现在有自动计算机程序,可以快速比较指纹和数据库。然而,为了评估指纹识别中证据的强度,需要有关皮肤乳头脊不同形态特征频率的补充信息。这项工作将此想法用作起点,以评估从134名男性和127名女性西班牙人口中抽取的2600个指纹的大样本中确定手和手指时使用的参数频率。根据这些指纹,获得了以下参数的不同类别的频率:模式类型,顶点脊的斜坡,双delta模式的亚型,山脊示踪,主要角度,主要山脊计数,平分线,中央脊的旋转,同化为循环和倾斜。此外,结果表明,这些字符对于确定螺纹(两delta模式)和环(一delta模式)中的手是有用的,但不是为了确定手指。在确定双三角指纹的起源手时,最有用和分类的参数是顶点脊的斜率,对于单三角模式,知道delta的位置可以在超过93%的情况下正确估计指纹的手。本文提供的数据是新颖的,可供潜在印刷审查员使用,以改善其得出结论的决策的统计基础。
    The individuality and permanence of fingerprints make of them a very useful feature in the identification of individuals. There are now automated computer programmes that allow a quick comparison between a fingermark and a database. However, in order to assess the strength of evidence in fingerprint identification, complementary information on the frequencies of the different morphological features of the dermopapillary ridges is required. This idea is used in this work as a starting point to evaluate the frequencies of the parameters used in the determination of the hand and finger in a large sample of 2600 fingerprints taken from 134 male and 127 female Spanish population. Based on these fingerprints, the frequencies of different categories of the following parameters were obtained: type of pattern, slope of the apex ridge, subtype of two-delta pattern, ridge tracing, major angle, major ridge count, bisector, rotation of the central ridge, assimilation to loops and slant. Moreover, the results have shown that these characters are useful for the determination of the hand in whorls (two-delta pattern) and loops (one-delta pattern), but not for the determination of the finger. The most useful and classificatory parameter when determining the hand of origin of a two-delta fingerprint is the slope of the apex ridge, and for the one-delta pattern, knowing the location of the delta allows the correct estimation of the hand of a fingerprint in more than 93% of the cases. The data presented in this paper are novel and can be used by latent print examiners to improve the statistical basis of their decisions in reaching conclusions.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    肌萎缩侧索硬化症(ALS)是一种慢性进行性神经退行性疾病,可导致运动神经元丢失。ALS患者的饮食摄入被认为影响疾病的预后和进展。这项研究的目的是检查营养,西班牙ALS患者的临床和社会人口统计学特征。一项关于人口统计学的横断面描述性研究,进行了临床回忆和人体测量评估.记录营养摄入量,并与饮食参考摄入量(DRI)进行比较。研究包括40名受试者(25名男性;15名女性),年龄为54.7±10.17。平均体重和身高分别为67.99±8.85kg和167.83±8.79cm,分别。临床表型,诊断时间到了,发病年份和家族史与原产地无关.临床表型对诊断时间无影响。热量和蛋白质摄入充足,而碳水化合物,维生素B8和碘摄入量明显低于DRI。脂质;维生素B1,B2,B3,B5,B6,B12,C和E;钠;磷;和硒的摄入量显着高于推荐的营养标准。ALS患者,他们在我国领土上均匀分布,应该改变他们的饮食习惯,以尽量减少超加工产品,并优先考虑富含健康脂肪和纤维的食物。
    Amyotrophic lateral sclerosis (ALS) is a chronic and progressive neurodegenerative disease that leads to the loss of motor neurons. The dietary intake of ALS patients is thought to influence the prognosis and progression of the disease. The aim of this study was to examine the nutritional, clinical and sociodemographic characteristics of ALS patients in Spain. A cross-sectional descriptive study with demographics, clinical anamnesis and anthropometric assessment was carried out. Nutritional intake was recorded and compared with dietary reference intakes (DRI). Forty subjects (25 males; 15 females) aged 54.7 ± 10.17 were included in the study. The mean weight and height were 67.99 ± 8.85 kg and 167.83 ± 8.79 cm, respectively. Clinical phenotype, time to diagnosis, year of onset and family history were not associated with the place of origin. Clinical phenotype had no influence on time of diagnosis. Caloric and protein intakes were adequate, while carbohydrate, vitamin B8 and iodine intakes were significantly lower than the DRI. Lipids; vitamins B1, B2, B3, B5, B6, B12, C and E; sodium; phosphorus; and selenium intakes were significantly higher than the recommended nutritional standards. ALS patients, who are homogeneously distributed throughout our national territory, should modify their dietary habits to minimize ultra-processed products and prioritize foods rich in healthy fats and fiber.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    饮料和饮料在维持个体的整体健康中起着重要作用。这项研究的目的是发现西班牙人口不同群体的饮料消费模式,并调查其与其他营养变量和习惯的关系。为了实现目标,一个观察,我们进行了描述性和横断面研究.对于数据收集,我们设计并验证了一份调查问卷,调查了不同的饮料和食品消费变量以及社会人口统计学和生活方式变量.该文书被传播,在西班牙年轻的成年人口中,通过使用社交网络的滚雪球采样,收集17541份有效调查样本。进行了双变量比较分析和相关性分析,最后,为了研究与饮酒和健康相关的变量之间的关系,使用了主成分分析(PCA)方法。主要结果表明,性别的社会人口统计学变量之间的饮料消费模式存在显着差异,年龄和教育水平,以及西班牙不同地区之间,而PCA模型显示了含糖饮料的消费与人群健康营养指数和运动实践之间的关系。根据研究结果,得出以下结论:西班牙人口的饮料消费模式受社会人口统计学变量的影响.健康的饮酒习惯会影响人口的营养和健康。
    Beverages and drinks play a significant role in maintaining the integral health of individuals. The aim of this study is to discover the pattern of beverage consumption in different groups of the Spanish population and to investigate its relationship with other nutritional variables and habits. To achieve the objectives, an observational, descriptive and cross-sectional study was conducted. For data collection, a questionnaire was designed and validated that explored different beverage and food consumption variables as well as socio-demographic and lifestyle variables. The instrument was disseminated, among the Spanish young adult population, through snowball sampling using social networks, collecting a sample of 17,541 valid surveys. Bivariate comparative analyses and correlation analyses were performed, and finally, the principal component analysis (PCA) method was used in order to study the relationships between variables related to drinking and health. The main results show significant differences in the pattern of beverage consumption between the socio-demographic variables of sex, age and educational level, as well as between different areas of Spain, while the PCA model shows the relationship between the consumption of sugar-sweetened beverages with the Healthy Nutrition Index of the population and sport practice. Based on the results of the study, the following conclusions were reached: the beverage consumption pattern of the Spanish population is affected by socio-demographic variables. Healthier drinking habits affect the nutrition and health of the population.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    COVID-19大流行后的封锁和降级过程导致了一段新的常态。这项研究旨在评估分娩对围产期妇女心理健康的影响,因为他们的心理健康可能特别脆弱,从而影响他们后代的发育。在严格分娩(G0)和新常态期(G1)期间分娩的妇女中进行了横断面流行病学研究,其中自我管理的纸质问卷评估了15个情境因素和一般健康问卷-12(GHQ-12)。对于每个项目,验证了每个限制阶段的阳性筛查率是否不同,并进行了危险因素研究。对于G0,在阳性筛查组中观察到明显更高的阳性筛查和早产率。在G1的情况下,产妇年龄(>35岁),体力活动减少,正常体重被发现是对抗痛苦的保护因素。这项研究强调了产后妇女在重大社会心理动荡期间的心理健康风险增加(战争,经济危机,自然灾害,或流行病),随着他们的复原力随着新常态的阳性筛查率下降。调查结果鼓励采取战略来识别高风险妇女并促进有效措施,例如促进身体活动。
    The lockdown and de-escalation process following the COVID-19 pandemic led to a period of new normality. This study aimed to assess the confinement impact on the mental health of peripartum women, as their psychological well-being may be particularly vulnerable and thus affect their offspring\'s development. A cross-sectional epidemiological study was conducted among women who gave birth during strict confinement (G0) and the new normality period (G1), in which a self-administered paper-based questionnaire assessed 15 contextual factors and the General Health Questionnaire-12 (GHQ-12). For each item, it was verified whether the positive screening rate differed in each confinement phase, and a risk factor study was conducted. For G0, significantly higher positive screening and preterm birth rates were observed in the positive screening group. In the case of G1, maternal age (>35 years), decreased physical activity, and normal weight were found to be protective factors against distress. This study underscores the heightened mental health risk for postpartum women during major psychosocial upheavals (war, economic crisis, natural disasters, or pandemics), along with their resilience as the positive screening rate decreases with the new normality. Findings encourage adopting strategies to identify high-risk women and promote effective measures, such as promoting physical activity.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Observational Study
    背景:跌倒会恶化老年人的生活质量,对跌倒的恐惧已被证明是虚弱的独立危险因素,因此,拥有评估工具是当务之急。简短的FES-I量表,FES-I量表(16项)的简短版本(7项),评估对跌倒的恐惧。这项研究的目的是验证西班牙人口超过70年的短FES-I量表,并分析对跌倒的恐惧之间的关系。跌倒和虚弱的风险。
    方法:横断面观察性研究。
    方法:227名受试者(50.7%为男性;平均年龄75.8岁)。
    方法:西班牙北部。
    方法:社会人口统计学,临床,短物理性能电池(SPPB)和定时和去测试(TUG)执行测试,FES-I和短FES-I心理测量学特性分析:效度和信度。
    结果:简短的FES-I量表显示出优异的内部一致性(Cronbach'sα=0.90,组内相关系数=0.89)和重测信度(rhoSpearman=0.76)。通过与FES-I的相关性分析,它具有很高的伴随标准效度(rhoSpearman=0.90)。SPPB和TUG的判别结构效度已得到证实。短FES-I表现出AUC=0.715的脆弱分类(由SPPB定义)的良好能力。作为一个临界点,建议短FES-I值>8用于中度/高度的跌倒恐惧。
    结论:简短的FES-I量表是研究70岁以上西班牙人群对跌倒的恐惧的良好工具,适用于临床和研究。
    BACKGROUND: Falls deteriorate the quality of life of the elderly and the fear of falling has been shown to be an independent risk factor for frailty, so having tools for its evaluation is a priority. The short FES-I scale, short version (7 items) of the FES-I scale (16 items), assesses fear of falling. The objective of this study is to validate the short FES-I scale in the Spanish population over 70 years and to analyze the relationship between fear of falling, risk of falls and frailty.
    METHODS: Cross-sectional observational study.
    METHODS: 227 subjects (50.7% male; mean age 75.8 years).
    METHODS: northern Spain.
    METHODS: sociodemographic, clinical, short physical performance battery (SPPB) and timed up and go test (TUG) execution tests, FES-I and short FES-I. Analysis of psychometric properties: validity and reliability.
    RESULTS: The short FES-I scale shows excellent internal consistency (Cronbach\'s alpha = 0.90, intraclass correlation coefficient = 0.89) and test-retest reliability (rho Spearman = 0.76). It has a high concomitant criterion validity analyzed by its correlation with FES-I (rho Spearman = 0.90). The discriminant construct validity has been confirmed for both SPPB and TUG. Short FES-I presents good capacity for frailty classification (defined by SPPB) with AUC = 0.715. As a cut-off point, a short FES-I value > 8 is proposed for moderate/high fear of falling.
    CONCLUSIONS: The short FES-I scale is a good instrument to study fear of falling in the Spanish population over 70 years and is valid for clinical and research use.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    背景:UD干扰测试测量处理速度和注意力,并且基于Stroop颜色和单词测试的干扰概念。该研究的主要目的是提供Stroop颜色和单词测试的替代版本,该版本克服了以前版本在评估患有达顿主义或与年龄相关的阅读困难的个人时的一些局限性,并获得西班牙人口的规范和标准化数据。
    方法:本研究是Normacog项目的一部分。我们评估了905名个体(年龄范围,18-93年)来分析测试的信度和并发和结构效度。我们评估了年龄的影响,性别,UD干扰测试表现和计算的百分位数以及年龄和教育程度调整后的缩放分数。
    结果:该测试具有良好的信度(α=0.875)和并发性(r=0.443-0.725;P<.001)和结构效度(r=0.472-0.737;P<.001)。我们观察到年龄和教育水平对UD干扰考试成绩有显著影响,解释12%到40%的差异。性别仅对抗干扰指数有显著影响。
    结论:我们提出了Stroop颜色和文字测试的替代版本,与以前的版本相比有一些优势。我们为西班牙人口提供标准化和标准化数据,以根据受试者的年龄和教育水平进行测试。
    BACKGROUND: The UD Interference Test measures processing speed and attention, and is based on the concept of interference of the Stroop Color and Word Test. The main purpose of the study is to provide an alternative version of the Stroop Color and Word Test that overcomes some of the limitations of previous versions in assessing individuals with daltonism or age-related reading difficulties, and to obtain normative and standardised data for the Spanish population.
    METHODS: This study is part of the Normacog project. We evaluated 905 individuals (age range, 18-93 years) to analyse the test\'s reliability and concurrent and construct validity. We evaluated the effect of age, sex, and level of education on UD Interference Test performance and calculated percentiles and age- and education-adjusted scaled scores.
    RESULTS: The test has good reliability (α = 0.875) and concurrent (r = 0.443-0.725; P < .001) and construct validity (r = 0.472-0.737; P < .001). We observed age and educational level to have a significant effect on UD Interference Test scores, explaining 12% to 40% of variance. Sex only had a significant effect on the resistance to interference index.
    CONCLUSIONS: We present an alternative version of the Stroop Color and Word Test with some advantages over previous versions. We provide standardised and normalised data for the Spanish population to correct the test according to the subject\'s age and level of education.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    目的:母亲的过渡是情绪障碍发展的危险时期。尽管产后焦虑会对母亲及其婴儿产生影响,但尚未像其他情绪障碍那样进行彻底的研究。缺乏用于早期检测的标准化计划和用于其诊断的特定工具意味着产后焦虑常常被低估或蒙上阴影。这项研究旨在翻译和验证西班牙人群的产后特定焦虑量表[PSAS],并分析其作为母亲特定焦虑的探索性工具的可靠性。
    方法:本研究遵循四个阶段:翻译和回译以获得西班牙语版本[PSAS-ES];初步试点研究,以探索对项目做出反应的可理解性和易用性(n=53);收敛效度分析(n=644);和重测信度(n=234)。
    结果:PSAS-ES具有良好的可接受性,PSAS总体量表的收敛效度和高内部一致性,Cronbachα系数为0.93。这四个因素具有较好的可靠性。测试-再测试的结果为0.86,表明在前16周内随时间的优异稳定性。
    结论:心理测量结果表明,PSAS-ES是探索和检测产后0至16周西班牙母亲焦虑的有效工具。
    The transition to motherhood is a period of risk for the development of mood disorders. Postpartum anxiety has not been as thoroughly studied as other emotional disorders despite its impact on mothers and their babies. The absence of standardized programmes for early detection and specific tools for its diagnosis means postpartum anxiety is often underestimated or overshadowed. This study aimed to translate and validate the Postpartum Specific Anxiety Scale [PSAS] for the Spanish population and to analyse its reliability as an exploratory tool for specific anxiety in mothers.
    Four stages were followed in this research: translation and back-translation to obtain the Spanish version [PSAS-ES]; preliminary pilot study to explore the comprehensibility and ease of responding the items (n = 53); convergent validity analyses (n = 644); and test-retest reliability (n = 234).
    The PSAS-ES has shown to have good acceptability, convergent validity and high internal consistency with a Cronbach\'s α coefficient of 0.93 for the overall scale of PSAS. The four factors had good reliability. The results of test-retest was 0.86, indicating excellent stability over time in the first 16 weeks.
    The psychometric results show that the PSAS-ES is a valid tool to explore and detect anxiety in Spanish mothers between 0 and 16 weeks postpartum.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    药物遗传学(PGx)的实施是当今精准医学的主要里程碑,以实现更安全,更有效的治疗。然而,PGx诊断的实施在全球范围内极其缓慢和不平等,部分原因是缺乏少数民族PGx信息。我们分析了通过不同高通量(HT)技术获得的3006个西班牙个体的遗传数据。在我们的人群中确定了与治疗变化相关的21个主要可操作PGx基因的等位基因频率。我们发现,98%的西班牙人口至少有一个与治疗改变相关的等位基因,因此,64种相关药物中平均3.31种需要进行治疗性改变.我们还在所评估的21个主要PGx基因中的18个中鉴定出了先前与PGx无关的326个推定有害变体,并且对于所描述的1045个PGx基因总共鉴定出7122个推定有害变体。此外,我们对主要的HT诊断技术进行了比较,揭示了全基因组测序后,使用PGxHT阵列进行基因分型是PGx诊断的最合适解决方案。最后,所有这些信息都集成在协作西班牙变体服务器中,以供科学界使用和更新。
    The implementation of pharmacogenetics (PGx) is a main milestones of precision medicine nowadays in order to achieve safer and more effective therapies. Nevertheless, the implementation of PGx diagnostics is extremely slow and unequal worldwide, in part due to a lack of ethnic PGx information. We analysed genetic data from 3006 Spanish individuals obtained by different high-throughput (HT) techniques. Allele frequencies were determined in our population for the main 21 actionable PGx genes associated with therapeutical changes. We found that 98% of the Spanish population harbours at least one allele associated with a therapeutical change and, thus, there would be a need for a therapeutical change in a mean of 3.31 of the 64 associated drugs. We also identified 326 putative deleterious variants that were not previously related with PGx in 18 out of the 21 main PGx genes evaluated and a total of 7122 putative deleterious variants for the 1045 PGx genes described. Additionally, we performed a comparison of the main HT diagnostic techniques, revealing that after whole genome sequencing, genotyping with the PGx HT array is the most suitable solution for PGx diagnostics. Finally, all this information was integrated in the Collaborative Spanish Variant Server to be available to and updated by the scientific community.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

公众号