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1.
Curr Opin Urol ; 31(4): 363-368, 2021 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-33989230

RESUMEN

PURPOSE OF REVIEW: To investigate the possible effects of severe acute respiratory syndrome-related coronavirus 2 (SARS-CoV-2) on kidney function and assess the rate of viral ribonucleic acid (RNA) shedding/detection in urine. RECENT FINDINGS: Most of the research on the topic suggests that for the moment our ability to estimate whether SARS-CoV-2 is a direct causative agent in acute kidney injury (AKI) or whether it has a cytokine storm effect is limited. During our prospective assessment of 333 patients with COronaVIrus Disease 2019 (COVID-19) it was found that frequency of AKI of 9.6% (32 cases). Despite previous data suggestive of the ability to detect SARS-CoV-2 in urine, we were unable to identify any traces of messenger ribonucleic acid (mRNA) in our group. Both COVID-19 severity (odds ratio, OR = 23.09, confidence interval, CI 7.89-67.57, P < 0.001) and chronic kidney disease (CKD) history (OR = 7.17, CI 2.09-24.47, P = 0.002) were associated with the AKI rate. SUMMARY: AKI is a relatively frequent condition for patients with COVID-19 and is normally correlated with the severity of the disease and the patient's history of CKD. The available data fail to address whether SARS-CoV-2 mRNA is present in urine, whereas our prospective trial data suggest that mRNA is undetectable in urine irrespective of the severity of the disease.


Asunto(s)
Lesión Renal Aguda , COVID-19 , Lesión Renal Aguda/diagnóstico , Lesión Renal Aguda/epidemiología , Humanos , Riñón , Estudios Prospectivos , ARN Viral/genética , SARS-CoV-2
2.
Am J Hum Genet ; 82(1): 236-50, 2008 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-18179905

RESUMEN

Progress in the mapping of population genetic substructure provides a core source of data for the reconstruction of the demographic history of our species and for the discovery of common signals relevant to disease research: These two aspects of enquiry overlap in their empirical data content and are especially informative at continental and subcontinental levels. In the present study of the variation of the Y chromosome pool of ethnic Russians, we show that the patrilineages within the pre-Ivan the Terrible historic borders of Russia have two main distinct sources. One of these antedates the linguistic split between West and East Slavonic-speaking people and is common for the two groups; the other is genetically highlighted by the pre-eminence of haplogroup (hg) N3 and is most parsimoniously explained by extensive assimilation of (or language change in) northeastern indigenous Finno-Ugric tribes. Although hg N3 is common for both East European and Siberian Y chromosomes, other typically Siberian or Mongolian hgs (Q and C) have negligible influence within the studied Russian Y chromosome pool. The distribution of all frequent Y chromosome haplogroups (which account for 95% of the Y chromosomal spectrum in Russians) follows a similar north-south clinal pattern among autosomal markers, apparent from synthetic maps. Multidimensional scaling (MDS) plots comparing intra ethnic and interethnic variation of Y chromosome in Europe show that although well detectable, intraethnic variation signals do not cross interethnic borders, except between Poles, Ukrainians, and central-southern Russians, thereby revealing their overwhelmingly shared patrilineal ancestry.


Asunto(s)
Pueblo Asiatico/genética , Cromosomas Humanos Y , Población Blanca/genética , Etnicidad , Genética de Población , Humanos , Federación de Rusia
3.
PLoS One ; 9(12): e115265, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25531278

RESUMEN

BACKGROUND: Kazakhstan has been inhabited by different populations, such as the Kazakh, Kyrgyz, Uzbek and others. Here we investigate allelic and haplotypic polymorphisms of human leukocyte antigen (HLA) genes at DRB1, DQA1 and DQB1 loci in the Kazakh ethnic group, and their genetic relationship between world populations. METHODOLOGY/PRINCIPAL FINDINGS: A total of 157 unrelated Kazakh ethnic individuals from Astana were genotyped using sequence based typing (SBT-Method) for HLA-DRB1, -DQA1 and -DQB1 loci. Allele frequencies, neighbor-joining method, and multidimensional scaling analysis have been obtained for comparison with other world populations. Statistical analyses were performed using Arlequin v3.11. Applying the software PAST v. 2.17 the resulting genetic distance matrix was used for a multidimensional scaling analysis (MDS). Respectively 37, 17 and 19 alleles were observed at HLA-DRB1, -DQA1 and -DQB1 loci. The most frequent alleles were HLA-DRB1*07:01 (13.1%), HLA-DQA1*03:01 (13.1%) and HLA-DQB1*03:01 (17.6%). In the observed group of Kazakhs DRB1*07:01-DQA1*02:01-DQB1*02:01 (8.0%) was the most common three loci haplotype. DRB1*10:01-DQB1*05:01 showed the strongest linkage disequilibrium. The Kazakh population shows genetic kinship with the Kazakhs from China, Uyghurs, Mongolians, Todzhinians, Tuvinians and as well as with other Siberians and Asians. CONCLUSIONS/SIGNIFICANCE: The HLA-DRB1, -DQA1 and -DQB1 loci are highly polymorphic in the Kazakh population, and this population has the closest relationship with other Asian and Siberian populations.


Asunto(s)
Pueblo Asiatico/genética , Cadenas alfa de HLA-DQ/genética , Cadenas beta de HLA-DQ/genética , Cadenas HLA-DRB1/genética , Polimorfismo Genético , Alelos , Frecuencia de los Genes , Genotipo , Haplotipos , Humanos , Kazajstán , Desequilibrio de Ligamiento
4.
Self Nonself ; 2(2): 120-124, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22299064

RESUMEN

OBJECTIVES: Atopic dermatitis (AD) is an increasingly common, chronic, relapsing, inflammatory skin disease characterized by impaired epidermal barrier function and cutaneous inflammation. The prevalence of AD has steadily increased during the past few decades. The aim of this study was to comparatively investigate cytokine gene expression in the skin and peripheral blood of atopic dermatitis patients and healthy individuals. RESULTS: In the skin of patients with AD, a significant increase of the level of gene expression was observed for interleukin (IL)-2r (p < 0.0023), IL-5 (p = 0.002), IL-6 (p < 0.0023), IL-8 (p = 0.01), IL-12B (p < 0.0023), IL-10 (p < 0.0023), IL-23 (p = 0.002), IL-29 (p < 0.0023), and transforming growth factor beta (tGFbeta) (p < 0.0023) as compared to healthy individuals. In contrast, no difference between AD patients and healthy donors was detected with respect to cytokine gene expression in the peripheral blood. METHODS: Samples of skin and peripheral blood from 48 severe AD patients (SCORAD = 78.5 [57;89], IGA = 4.2 [3,9;4,7]) at the age of 17 to 45 years and 20 healthy donors aged from 19 to 32 years were analyzed for gene expression of cytokines using real-time reverse transcription polymerase chain reaction (RT-PCR). CONCLUSIONS: Activity of markers of chronic inflammation and Th1 immune response in severe AD, namely IL-2r, IL-8, IL-12B, IL-23, IL-29 and TGFbeta, as well as activity of anti-inflammatory IL-5 were predominant in the skin but not in the blood of AD patients.

5.
J Physiol Anthropol Appl Human Sci ; 24(4): 375-82, 2005 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-16079584

RESUMEN

It has been proposed that the Delta32 mutation in the chemokine receptor gene, inducing resistance to HIV-1 and, probably, to other virus infections, has undergone selection in historical times. The frequency of this mutant allele has changed rapidly both in time (during the last two millennia) and in space (across Eurasia). We compiled a global database on Delta32 allele frequencies in 300 populations. Nearly 10 percent of them are our data on 35 East European populations analyzed here for the first time. A detailed map of Delta32 frequency distribution was constructed and statistically analysed. We found a linearly decreasing trend with a maximum in areas surrounding the Baltic and White seas. Significant correlations with ground surface temperature were revealed. However, compared with our previous results, these correlations diminished, indicating that the influence of climate on Delta32 distribution was, if anything at all, indirect. The proposed scenario includes: i) arise and initial spread of the mutation among Uralic-speaking populations; ii) a frequency increase in northeastern Europe as a result of selection and/or genetic drift; iii) secondary spread (with selection continued) due to gene flow and the migrations of northern Europeans across the globe.


Asunto(s)
Demografía , Ambiente , Predisposición Genética a la Enfermedad , Genética de Población , Infecciones por VIH/genética , VIH-1 , Receptores CCR5/genética , Asia , Bases de Datos Genéticas , Emigración e Inmigración , Europa (Continente) , Frecuencia de los Genes , Humanos , Mutación/genética
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