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Thrombotic and microangiopathic effects have been reported in COVID-19 patients. This study examined the contribution of the hereditary thrombophilia factors Prothrombin (FII) and Factor V Leiden (FVL) genotypes to the severity of COVID-19 disease and the development of thrombosis. This study investigated FII and FVL alleles in a cohort of 9508 patients (2606 male and 6902 female) with thrombophilia. It was observed that 930 of these patients had been infected by SARS-CoV-2 causing COVID-19. The demographic characteristics of the patients and their COVID-19 medical history were recorded. Detailed clinical manifestations were analyzed in a group of cases (n = 4092). This subgroup was age and gender-matched. FII and FVL frequency data of healthy populations without thrombophilia risk were obtained from Bursa Uludag University Medical Genetic Department's Exome Databank. The ratio of males (31.08%; 27.01%) and the mean age (36.85 ± 15.20; 33.89 ± 14.14) were higher among COVID-19 patients compared to non-COVID-19 patients. The prevalence of FVL and computerized tomography (CT) positivity in COVID-19 patients was statistically significant in the thrombotic subgroup (p < 0.05). FVL prevalence, CT positivity rate, history of thrombosis, and pulmonary thromboembolism complication were found to be higher in deceased COVID-19 patients (p < 0.05). Disease severity was mainly affected by FVL and not related to genotypes at the Prothrombin mutations. Overall, disease severity and development of thrombosis in COVID-19 are mainly affected by the variation within the FVL gene. Possible FVL mutation should be investigated in COVID-19 patients and appropriate treatment should be started earlier in FVL-positive patients.
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COVID-19 , Trombofilia , Trombosis , Humanos , Masculino , Femenino , Protrombina/genética , Factores de Riesgo , SARS-CoV-2 , Genotipo , Factor V/genética , Trombofilia/epidemiología , Trombofilia/genética , Gravedad del Paciente , MutaciónRESUMEN
BACKGROUND: The most common symptoms of coronavirus infections are fever, cough, shortness of breath, headache, ache of joints, a loss of smell and loss of taste, and etc. Early studies suggested that smell and taste receptors were associated with pathogenic detection and immunity. Thus, we aimed to evaluate the expression profile of gene receptors that are related to taste, smell, and appetite control in COVID-19 patients and their putative correlation with SARS-CoV-19 variants. METHOD: Gene expression levels of TAS1R2, TAS1R3, TAS2R38, OR51E1, LEPR, GHRL were analyzed in 100 COVID-19 patients and 100 SARS-CoV-2 RT-qPCR negative group. RESULTS: The expression levels of TAS1R2 and TAS1R3 genes were significantly decreased in COVID-19 patients who were infected with Delta variant. However, the TAS2R38 gene expression level was significantly lower when compared to the control group. The TAS1R2 gene expression was positively correlated with TAS1R3, and TAS2R38 genes (p = 0.001, p = 0.025, respectively). CONCLUSION: TAS1R2, TAS1R3, and TAS2R38 gene expression levels were decreased in the Delta variant compared to the Omicron BA.1 variant in the studied groups. These results provided a significant clue for the temporary taste loss, especially in patients infected with the Delta variant, which is the most disruptive and symptomatic variant causing hospitalizations, and deaths compared to other variants may be because ACE2 is expressed in the taste buds and high replication of SARS-CoV-2 in the infected gustatory cells in the taste bud generates inflammation and then could eventually destroy the cells. This gustatory cell damage may cause malfunction of the gustatory system.
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COVID-19 , SARS-CoV-2 , Humanos , SARS-CoV-2/genética , COVID-19/genéticaRESUMEN
Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.
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Fiebre Mediterránea Familiar , Pirina , Fiebre Mediterránea Familiar/epidemiología , Fiebre Mediterránea Familiar/genética , Genética de Población , Genotipo , Humanos , Mutación , Fenotipo , Pirina/genética , Turquía/epidemiologíaRESUMEN
Heterogeneity in symptoms associated with COVID-19 in infected patients remains unclear. ACE2 and TMPRSS2 gene variants are considered possible risk factors for COVID-19. In this study, a retrospective comparative genome analysis of the ACE2 and TMPRSS2 variants from 946 whole-exome sequencing data was conducted. Allele frequencies of all variants were calculated and filtered to remove variants with allele frequencies lower than 0.003 and to prioritize functional coding variants. The majority of detected variants were intronic, only two ACE2 and three TMPRSS2 nonsynonymous variants were detected in the analyzed cohort. The main ACE2 variants that putatively have a protective or susceptibility effect on SARS-CoV-2 have not yet been determined in the Turkish population. The Turkish genetic makeup likely lacks any ACE2 variant that increases susceptibility to SARS-CoV-2 infection. TMPRSS2 rs75603675 and rs12329760 variants that were previously defined as common variants that have different allele frequencies among populations and may have a role in SARS-CoV-2 attachment to host cells were determined in the population. Overall, these data will contribute to the formation of a national variation database and may also contribute to further studies of ACE2 and TMPRSS2 in the Turkish population and differences in SARS-CoV-2 infection among other populations.
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Enzima Convertidora de Angiotensina 2/metabolismo , COVID-19 , SARS-CoV-2 , Enzima Convertidora de Angiotensina 2/genética , COVID-19/epidemiología , COVID-19/genética , Humanos , Peptidil-Dipeptidasa A/genética , Estudios Retrospectivos , Factores de Riesgo , SARS-CoV-2/genética , Serina Endopeptidasas/genética , Secuenciación del ExomaRESUMEN
Polycystic ovarian syndrome (PCOS) is a chronic hormonal turmoil that is demonstrated in 2.2-27% of women of pre-menopausal age. This disease is a complex multigenic disorder that results from the interaction between excess androgen expression, genetic susceptibility and environmental influences. PCOS is associated with 40% of female infertility and endometrial cancer. The WNT/ß-catenin signalling transduction pathway regulates aspects of cell proliferation, migration and cell fate determination in the tissue along with early embryonic development and controls the proper activation of the female reproductive system, along with regulating hormonal activity in ovarian granulosa cells. In the current study, we investigated the expression profiles of WNT/ß-catenin signalling pathway genes (AXIN2, FZD4, TCF4, WNT3, WNT4, WNT5A, WNT7A, WNT1, APC, GSK3B and ß-catenin) in a total of 13 oocyte samples. Seven of these samples were from polycystic women and six were from healthy women. The results of this study displayed the absence of expression of AXIN2, FZD4, TCF4, WNT5A, WNT3, WNT4 and WNT7A genes in ovaries from women with PCOS and from healthy women. While APC and ß-catenin expression levels were similar in the oocytes of both patients and controls, conversely, WNT1 and GSK3ß genes both showed elevated expression in the oocytes of patients with PCOS, therefore suggesting an association between aberrant expression of WNT1 and GSK3ß and the pathogenesis of PCOS. The observations of the current study could be helpful to provide evidence regarding the pathogenesis of PCOS and its treatment.
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Síndrome del Ovario Poliquístico , Femenino , Receptores Frizzled/genética , Glucógeno Sintasa Quinasa 3 beta/metabolismo , Humanos , Oocitos/metabolismo , Síndrome del Ovario Poliquístico/genética , Síndrome del Ovario Poliquístico/metabolismo , Embarazo , Vía de Señalización Wnt/genética , beta Catenina/genética , beta Catenina/metabolismoRESUMEN
OBJECTIVES: Vitamin D is a fat-soluble, prohormone vitamin that is important especially for bone mineralization and skeletal health. In recent years, vitamin D deficiency appeared as a worldwide problem, affecting many people in different ways including the Northern Cypriot population. The deficiency might be caused by the lack of exposure to sunlight, diet low in vitamin D, sedentary lifestyle, and also due to some genetic variations in the vitamin D receptor (VDR) gene. METHODS: In this study, four common VDR polymorphisms and associations with vitamin D deficiency in the Turkish Cypriot population between ages 18-40 and working in office conditions was studied by PCR- RFLP analysis. RESULTS: rs2228570 C>T variant was shown to be significantly associated with low serum vitamin D levels in the studied population. CONCLUSION: Together with the effect of rs2228570 C>T variant in the VDR gene, it is thought that the lifestyle changes in the Turkish Cypriot population might have caused the increased frequency of vitamin D deficiency in the young professionals.
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Polimorfismo de Nucleótido Simple , Deficiencia de Vitamina D , Adolescente , Adulto , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Polimorfismo de Longitud del Fragmento de Restricción , Selección Genética , Vitamina D , Deficiencia de Vitamina D/epidemiología , Deficiencia de Vitamina D/genética , Adulto JovenRESUMEN
Glutaric aciduria type I (GA1; OMIM #231670) is an autosomal recessively inherited and treatable disorder characterized by the accumulation and irregular excretion of glutaric acid due to a defect in the glutaryl-CoA dehydrogenase enzyme involved in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. Glutaryl-CoA dehydrogenase is encoded by the GCDH gene (OMIM #608801), and several mutations in this gene are known to result in GA1. GA1 usually presents in the first 18-36 months of life with mild or severe acute encephalopathy, movement disorders, and striatal degeneration. Few cases of adult-onset GA1 have been described so far in the literature, often with non-specific and sometimes longstanding neurological symptoms. Since a preventive metabolic treatment is available, neurologists must be aware of this rare but likely underdiagnosed presentation, especially when typical neuroimaging features are identified. Here, we describe 35-year-old presenting with headache and subjective memory problems. There was no history of dystonic movement disorders. Neurological examination and neurocognitive tests were normal. Brain MRI scan revealed white matter abnormalities associated with subependymal nodules and mild frontotemporal hypoplasia suggestive of glutaric aciduria type 1 (GA1). Genetic testing confirmed the presence of homozygous c.1204C > T (p.R402W) variant in the GCDH gene, inherited from heterozygous parents.
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Edad de Inicio , Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Errores Innatos del Metabolismo de los Aminoácidos/genética , Encefalopatías Metabólicas/diagnóstico , Encefalopatías Metabólicas/genética , Glutaril-CoA Deshidrogenasa/deficiencia , Glutaril-CoA Deshidrogenasa/genética , Adulto , Encéfalo/diagnóstico por imagen , Femenino , Estudios de Asociación Genética , Glutaratos/metabolismo , Heterocigoto , Secuenciación de Nucleótidos de Alto Rendimiento , Homocigoto , Humanos , Estilo de Vida , Imagen por Resonancia Magnética , Mutagénesis , Mutación , Linaje , Fenotipo , Pronóstico , Medición de RiesgoRESUMEN
Genetic engineering scientists have shown a wide increase especially on therapeutic promise which has gained considerable awareness. This goes back to a variety of tools including the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated 9 (Cas9) system. This technique has shown an efficient flourish in genome editing and treatment of genetic diseases. Due to its specificity and ease of use it has been widely adopted for a variety of applications involving human diseases, treatment, therapeutics in cancer and biotechnology. Albeit studies have shown that CRISPR/Cas9 technique is more proficient, particular and manipulable than past eras of genetic modulation instruments. Additionally, it can be further enhanced by the application of different developments raising its general productivity in a higher recurrence of genome modifications and decreasing its off-target impacts. Here in this review this technique will be introduced with discussing its relation with the genome engineering and gene editing especially in the therapeutic area. Furthermore, the specificity of the application is explained and the contribution of Induced Human Pluripotent Stem Cells (iPSCs) in gene manipulation and how CRISPR technology expanded its application is discussed. Lastly, we describe the novel effective applications of the CRISPR/Cas9 technology and propose some enhancements that might improve the technique with highlighting the future approach and remarks.
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Sistemas CRISPR-Cas , Edición Génica , Enfermedades Genéticas Congénitas/terapia , Terapia Genética , Repeticiones Palindrómicas Cortas Agrupadas y Regularmente Espaciadas/genética , Enfermedades Genéticas Congénitas/genética , Ingeniería Genética , Humanos , Células Madre Pluripotentes Inducidas , CirujanosRESUMEN
Marfan syndrome (MFS) is a multi-systemic autosomal dominant condition caused by mutations in the gene (FBN1) coding for fibrillin-1. Mutations have been associated with a wide range of overlapping phenotypes. Here, we report on an extended family presenting with skeletal, ocular and cardiovascular clinical features. The 37-year-old male propositus, who had chest pain, dyspnea and shortness of breath, was first diagnosed based on the revised Ghent criteria and then subjected to molecular genetic analyses. FBN1 sequencing of the proband as well as available affected family members revealed the presence of a novel variant, c.7828G>C (p.Glu2610Gln), which was not present in any of the unaffected family members. In silico analyses demonstrated that the Glu2610 residue is part of the conserved DINE motif found at the beginning of each cbEGF domain of FBN1. The substitution of Glu2610 with Gln decreased fibrillin-1 production accordingly. Despite the fact that this variation appears to be primarily responsible for the etiology of MFS in the present family, our findings suggest that variable clinical expressions of the disease phenotype should be considered critically by the physicians.
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Fibrilina-1/genética , Síndrome de Marfan/genética , Síndrome de Marfan/patología , Mutación/genética , Adolescente , Adulto , Secuencia de Aminoácidos , Secuencia de Bases , Niño , Simulación por Computador , Familia , Femenino , Fibrilina-1/química , Heterocigoto , Humanos , Masculino , Linaje , FenotipoRESUMEN
Vitamin D is an important molecule to keep teeth, bones and muscles healthy. It is obtained from diet, supplements and primarily from exposure to sunlight. In recent years, vitamin D deficiency is recognised as a worldwide health problem, which results in disturbances in mineral metabolism and skeletal problems. Deficiency might be caused due to sedentary lifestyle, insufficient diet, age as well as some polymorphisms in the VDR gene. In this study the four most common VDR polymorphisms (rs1544410 (BsmI), rs731236 (TaqI), rs7975232 (ApaI) and rs2228570 (FokI)) are investigated in a cohort of Turkish Cypriots and aimed to detect any possible links between low serum vitamin D levels and these variants. The rs2228570 (FokI) variant but not others were shown to have a significant association with decreased serum vitamin D levels in the Turkish Cypriot population.
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Receptores de Calcitriol/genética , Deficiencia de Vitamina D/sangre , Deficiencia de Vitamina D/genética , Vitamina D/sangre , Adulto , Anciano , Estudios de Casos y Controles , Chipre/etnología , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Polimorfismo de Nucleótido Simple , Receptores de Calcitriol/metabolismo , Factores de Riesgo , TurquíaRESUMEN
Meiotic recombination plays a key role in reshuffling haplotypes in human populations and thus affects evolution profoundly. However, our understanding of recombination dynamics is largely limited to descriptions of variation in populations and families. Higher-resolution analysis (≤ 0.0001 cM) of de novo recombination events in human sperm DNA has revealed clustering into very narrow hotspots (1-2 kb) that generally coincide with abrupt breakdown of linkage disequilibrium. Recent findings have highlighted an unexpected molecular control of the distribution of meiotic double-strand breaks (DSBs) in mammals by a rapidly evolving gene in trans, PR-domain-containing 9 (PRDM9), and specific DNA sequence motifs in cis. In addition, the understanding of new regulators in DSB repair processes has allowed the delineation of recombination pathways that have two major outcomes, cross-overs and non-cross-overs, which have distinct mechanistic roles and consequences for genome evolution. Further molecular studies are needed to gain information about how hotspots originate, function, and evolve.
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Genoma Humano/genética , N-Metiltransferasa de Histona-Lisina/genética , Recombinación Genética , Roturas del ADN de Doble Cadena , Regulación de la Expresión Génica/genética , Humanos , Desequilibrio de Ligamiento , Masculino , Meiosis/genética , Motivos de Nucleótidos/genética , Espermatozoides/crecimiento & desarrolloRESUMEN
Traditional methods for analyzing meiotic recombination in humans are limited. Recently developed in vitro and in silico assays together are useful for confirmation and detection of meiotic recombination hotspots from population polymorphism data. These techniques are significant both for understanding the nature of human meiotic recombination and for applications such as association studies.
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Estudios de Asociación Genética/métodos , Variación Genética , Meiosis/genética , Recombinación Genética , Roturas del ADN de Doble Cadena , Humanos , Polimorfismo de Nucleótido Simple/genéticaRESUMEN
Apolipoprotein A5 (APOA5 or APO A-V) polymorphisms have long been reported to be associated with cardiovascular disease and plasma lipid levels. The present study was undertaken to investigate the relationship between the rs662799, rs3135507, and rs2075291 with biochemical parameters in the Turkish Cypriot population. A total of 100 Turkish Cypriot volunteer subjects (53 female and 47 male), with a mean age of 40.8, participated in the study. A basic biochemical analysis, including serum glucose, total serum cholesterol, HDL-C, LDL-C, and triglycerides, was performed for each participant. Genotyping for the APOA5 three polymorphisms was performed by polymerase chain reaction followed by restriction fragment length polymorphism analysis. Biochemical parameters except the low-density lipoprotein cholesterol (LDL-C) were all within the normal limits. LDL-C was found to be slightly elevated in participants according to WHO guidelines. With respect to the genotype and allele distributions of APOA5 rs662799 T>C polymorphism, TT genotypes are more frequent (62%) in the population and the frequency of T allele is 0.78. The TT genotype for APOA5 rs2075291 G
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Apolipoproteína A-V/genética , Enfermedades Cardiovasculares , Genotipo , Lípidos/sangre , Polimorfismo Genético , Adulto , Biomarcadores/sangre , Enfermedades Cardiovasculares/sangre , Enfermedades Cardiovasculares/genética , Enfermedades Cardiovasculares/prevención & control , Estudios de Casos y Controles , Chipre , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Chronic venous insufficiency (CVI) is a common medical condition characterized by impaired functioning of the venous system in the lower extremities. It leads to various symptoms, including varicose veins, leg edema, and skin pigmentation. It is believed that a combination of genetic and environmental factors affect the development of CVI. The APOE gene is of particular interest in this context, as it plays a role in lipid metabolism and inflammation. The ε4 allele (rs429358) has been associated with an increased risk of Alzheimer's disease, while the ε2 allele (rs7412) has shown a protective effect against Alzheimer's disease but a strong association with cardiovascular inflammation. This research aimed to investigate the presence of APOE gene variants in individuals with chronic venous insufficiency disease and validate the relationship between this gene and cardiovascular diseases. The study analyzed the expression of APOE gene variants in varicose vein tissue samples from patients and a normal vein in the control group. The results indicated no significant expression of the ε4 allele in either group. However, there was a significant decrease in the expression of the ε2 allele in the patient group. Additionally, a negative correlation was observed between the two single nucleotide polymorphisms (SNPs) in vein tissue. The lower expression of the ε2 allele in patients suggests a potentially reduced risk of cardiovascular disease in these individuals. Consequently, there appears to be a weaker association between the expression of the APOE gene ε2 allele and cardiovascular diseases.
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Alzheimer's disease (AD) is a major global health challenge, especially among individuals aged 65 or older. According to population health studies, Turkey has the highest AD prevalence in the Middle East and Europe. To accurately determine the frequencies of common and rare APOE single nucleotide polymorphisms (SNPs) in the Turkish population residing in the Marmara Region, we conducted a retrospective study analyzing APOE variants in 588 individuals referred to the Bursa Uludag University Genetic Diseases Evaluation Center. Molecular genotyping, clinical exome sequencing, bioinformatics analysis, and statistical evaluation were employed to identify APOE polymorphisms and assess their distribution. The study revealed the frequencies of APOE alleles as follows: ε4 at 9.94%, ε2 at 9.18%, and ε3 at 80.68%. The gender-based analysis in our study uncovered a tendency for females to exhibit a higher prevalence of mutant genotypes across various SNPs. The most prevalent haplotype observed was ε3/ε3, while rare APOE SNPs were also identified. These findings align with global observations, underscoring the significance of genetic diversity and gender-specific characteristics in comprehending health disparities and formulating preventive strategies.
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Intellectual and developmental disabilities result from abnormal nervous system development. Over a 1,000 genes have been associated with intellectual and developmental disabilities, driving continued efforts toward dissecting variant functionality to enhance our understanding of the disease mechanism. This report identified two novel variants in CC2D1A in a cohort of four patients from two unrelated families. We used multiple model systems for functional analysis, including Xenopus, Drosophila, and patient-derived fibroblasts. Our experiments revealed that cc2d1a is expressed explicitly in a spectrum of ciliated tissues, including the left-right organizer, epidermis, pronephric duct, nephrostomes, and ventricular zone of the brain. In line with this expression pattern, loss of cc2d1a led to cardiac heterotaxy, cystic kidneys, and abnormal CSF circulation via defective ciliogenesis. Interestingly, when we analyzed brain development, mutant tadpoles showed abnormal CSF circulation only in the midbrain region, suggesting abnormal local CSF flow. Furthermore, our analysis of the patient-derived fibroblasts confirmed defective ciliogenesis, further supporting our observations. In summary, we revealed novel insight into the role of CC2D1A by establishing its new critical role in ciliogenesis and CSF circulation.
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Cilios , Ciliopatías , Discapacidad Intelectual , Humanos , Animales , Discapacidad Intelectual/genética , Masculino , Cilios/metabolismo , Femenino , Ciliopatías/genética , Ciliopatías/metabolismo , Fibroblastos/metabolismo , Mutación , Riñón/metabolismo , Encéfalo/metabolismo , Linaje , Xenopus , Líquido Cefalorraquídeo/metabolismoRESUMEN
BACKGROUND/AIM: The application of next-generation sequencing (NGS) technology in the genetic investigation of hereditary cancer is important for clinical surveillance, therapeutic approach, and reducing the risk of developing new malignancies. The aim of the study was to explore genetic predisposition in individuals referred for hereditary cancer. MATERIALS AND METHODS: A total of 8,261 individuals were referred for multigene genetic testing, during the period 2020-2023, in the laboratory, and underwent multigene genetic testing using NGS. Among the examined individuals, 56.17% were diagnosed with breast cancer, 6.77% with ovarian cancer, 2.88% with colorectal cancer, 1.91% with prostate cancer, 6.43% were healthy with a significant family history of cancer, while 3.06% had a different type of cancer and 0.21% had not provided any information. Additionally, in 85 women with breast cancer we performed whole exome sequencing analysis. RESULTS: 20% of the examined individuals carried a pathogenic variant. Specifically, 54.8% of the patients had a pathogenic variant in a clinically significant gene (BRCA1, BRCA2, PALB2, RAD51C, PMS2, CDKN2A, MLH1, MSH2, TP53, MSH6, APC, RAD51D, PTEN, RET, CDH1, MEN1, and VHL). Among the different types of pathogenic variants detected, a significant percentage (6.52%) represented copy number variation (CNV). With WES analysis, the following findings were detected: CTC1: c.880C>T, p.(Gln294*); MLH3: c.405del, p.(Asp136Metfs*2), PPM1D: c.1426_1430del, p.(Glu476Leufs*3), and SDHB: c.395A>G, p.(His132Arg). CONCLUSION: Comprehensive multigene genetic testing is necessary for appropriate clinical management of pathogenic variants' carriers. Additionally, the information obtained is important for determining the risk of malignancy development in family members of the examined individuals.
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Predisposición Genética a la Enfermedad , Pruebas Genéticas , Humanos , Femenino , Masculino , Adulto , Persona de Mediana Edad , Pruebas Genéticas/métodos , Anciano , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Adulto Joven , Neoplasias/genética , Neoplasias/diagnóstico , Laboratorios Clínicos , Adolescente , Biomarcadores de Tumor/genética , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/diagnóstico , Anciano de 80 o más AñosRESUMEN
The most well-grounded dietary pattern involved in nutrigenenic studies investigating non -communicable diseases is the Mediterranean diet. This dietary regime is inspired by the nutritional habits of people residing near Mediterranean Sea. The fundamental elements of this diet can vary based on ethnicity, culture, economic status and religious properties and are associated with lowercases of all-cause mortality rates. Mediterranean diet is most studied dietary pattern at the level of evidence-based medicine. Nutritional based studies are dependent on combined data analysis from the multi-omics technique which delineates systematic alternations taking place fallowing exposure to a stimulant. Comprehending the physiological mechanisms of plant metabolites in cellular processes, in combination of Nutri-genetic and nutrigenomics association with multi omics approaches is a necessary step for developing personalized nutrition regime for a stronger management, treatment and prevention of chronic diseases. The advanced lifestyle is marked by abundant access to food and an accelerating trend of physical inactivity, the latter of which contribute to a variety of health problems. In light of the importance of excellent food habits in the prevention of chronic diseases, health policy should promote the adoption of healthy diets that sustain traditional dietary patterns in the face of commercial pressures.
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Dieta Mediterránea , Estado Nutricional , Humanos , Conducta Alimentaria , Nutrigenómica , AlimentosRESUMEN
BACKGROUND AND OBJECTIVES: The COVID-19 pandemic that emerged in China in late 2019 and spread rapidly around the world. There is evidence that COVID-19 infection can be influenced by genetic variations in the host. The aim of this study was to investigate the association between ACE InDel polymorphism and COVID-19 in Northern Cyprus. PATIENTS AND METHODS: This study included 250 patients diagnosed with COVID-19 and 371 healthy controls. Genotyping for the ACE InDel gene polymorphism was performed by polymerase chain reaction. RESULTS: The frequency of ACE DD homozygotes was significantly increased in COVID-19 patients compared to the control group (p=0.022). The difference in the presence of the D allele between the patient and control groups was statistically significant (57.2% and 50.67%, respectively, p<0.05). Individuals with the genotype II were found to have a higher risk of symptomatic COVID-19 (p=0.011). In addition, chest radiographic findings were observed more frequently in individuals with the genotype DD compared to individuals with the genotypes ID and II (p=0.005). A statistically significant difference was found when the time of onset of symptoms for COVID-19 and duration of treatment were compared with participants' genotypes (p=0.016 and p=0.014, respectively). The time of onset of COVID-19 was shorter in individuals with the genotype DD than in individuals with the genotype II, while the duration of treatment was longer. CONCLUSION: In conclusion, the ACE I/D polymorphism has the potential to predict the severity of COVID-19.
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COVID-19 , Pandemias , Humanos , Peptidil-Dipeptidasa A/genética , COVID-19/genética , Polimorfismo Genético , Genotipo , Angiotensinas , Frecuencia de los GenesRESUMEN
Spinal muscular atrophy (SMA) is a rare, recessively inherited neurodegenerative disorder caused by the presence of pathogenic variants in the SMN gene. As it is the leading inherited cause of infant mortality, identification of SMN gene pathogenic variant carriers is important for diagnostic purposes with effective genetic counseling. Multiple ligation probe analysis (MLPA), a probe-based method, is considered as the gold standard for SMA carrier analysis. However, MLPA might give false-negative results in cases with variations in the probe-binding regions. Here, we present a case born to consanguineous SMA carrier parents. Prenatal diagnosis with MLPA failed to detect the compound heterozygous mutant state of the proband and she was born unfortunately with SMA phenotype. Further analysis with a real-time polymerase chain reaction kit was able to detect the compound heterozygous state of the patient and was confirmed with targeted next-generation sequencing technology.