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1.
Heart Fail Clin ; 20(3): 317-323, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38844302

RESUMEN

Hereditary transthyretin-related amyloidosis (hATTR) is the most common form of familial amyloidosis. It is an autosomal dominant disease caused by a pathogenic variant in the TTR gene. More than 140 TTR gene variants have been associated with hATTR, with the Val30Met variant representing the most common worldwide. The clinical phenotype varies according to the gene variant and includes predominantly cardiac, predominantly neurologic, and mixed phenotypes. The present review aims to describe the genotype-phenotype correlations in hATTR. Understanding these correlations is crucial to facilitate the early identification of the disease, predict adverse outcomes, and guide management with approved disease-modifying therapies.


Asunto(s)
Neuropatías Amiloides Familiares , Fenotipo , Prealbúmina , Humanos , Neuropatías Amiloides Familiares/genética , Prealbúmina/genética , Mutación , Estudios de Asociación Genética , Genotipo
2.
Genet Sel Evol ; 56(1): 43, 2024 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-38844876

RESUMEN

BACKGROUND: Limitations of the concept of identity by descent in the presence of stratification within a breeding population may lead to an incomplete formulation of the conventional numerator relationship matrix ( A ). Combining A with the genomic relationship matrix ( G ) in a single-step approach for genetic evaluation may cause inconsistencies that can be a source of bias in the resulting predictions. The objective of this study was to identify stratification using genomic data and to transfer this information to matrix A , to improve the compatibility of A and G . METHODS: Using software to detect population stratification (ADMIXTURE), we developed an iterative approach. First, we identified 2 to 40 strata ( k ) with ADMIXTURE, which we then introduced in a stepwise manner into matrix A , to generate matrix A Γ using the metafounder methodology. Improvements in consistency between matrix G and A Γ were evaluated by regression analysis and through the comparison of the overall mean and mean diagonal values of both matrices. The approach was tested on genotype and pedigree information of European and North American Brown Swiss animals (85,249). Analyses with ADMIXTURE were initially performed on the full set of genotypes (S1). In addition, we used an alternative dataset where we avoided sampling of closely related animals (S2). RESULTS: Results of the regression analyses of standard A on G were - 0.489, 0.780 and 0.647 for intercept, slope and fit of the regression. When analysing S1 data results of the regression for A Γ on G corresponding values were - 0.028, 1.087 and 0.807 for k =7, while there was no clear optimum k . Analyses of S2 gave a clear optimal k =24, with - 0.020, 0.998 and 0.817 as results of the regression. For this k differences in mean and mean diagonal values between both matrices were negligible. CONCLUSIONS: The derivation of hidden stratification information based on genotyped animals and its integration into A improved compatibility of the resulting A Γ and G considerably compared to the initial situation. In dairy breeding populations with large half-sib families as sub-structures it is necessary to balance the data when applying population structure analysis to obtain meaningful results.


Asunto(s)
Genética de Población , Modelos Genéticos , Linaje , Animales , Genética de Población/métodos , Bovinos/genética , Cruzamiento/métodos , Genotipo , Programas Informáticos , Masculino
3.
Artículo en Inglés | MEDLINE | ID: mdl-38847554

RESUMEN

The aim of the present study was to determine the associations between the MICB genetic variability and the expression and the risk of development of post-transplant complications after allogeneic hematopoietic stem cell transplantation (HSCT). HSCT recipients and their donors were genotyped for two MICB polymorphisms (rs1065075, rs3828903). Moreover, the expression of a soluble form of MICB was determined in the recipients' serum samples after transplantation using the Luminex assay. Our results revealed a favorable role of the MICB rs1065075 G allele. Recipients with donors carrying this genetic variant were less prone to developing chronic graft-versus-host disease (cGvHD) when compared to recipients without any symptoms of this disease (41.41% vs. 65.38%, p = 0.046). Moreover, the MICB rs1065075 G allele was associated with a lower incidence of cytomegalovirus (CMV) reactivation, both as a donor (p = 0.015) and as a recipient allele (p = 0.039). The MICB rs1065075 G variant was also found to be associated with decreased serum soluble MICB (sMICB) levels, whereas serum sMICB levels were significantly higher in recipients diagnosed with CMV infection (p = 0.0386) and cGvHD (p = 0.0008) compared to recipients without those complications. A protective role of the G allele was also observed for the rs3828903 polymorphism, as it was more frequently detected among donors of recipients without cGvHD (89.90% vs. 69.23%; p = 0.013). MICB genetic variants, as well as serum levels of sMICB, may serve as prognostic factors for the risk of developing cGvHD and CMV infection after allogeneic HSCT.


Asunto(s)
Infecciones por Citomegalovirus , Predisposición Genética a la Enfermedad , Enfermedad Injerto contra Huésped , Trasplante de Células Madre Hematopoyéticas , Antígenos de Histocompatibilidad Menor , Trasplante Homólogo , Humanos , Enfermedad Injerto contra Huésped/genética , Enfermedad Injerto contra Huésped/etiología , Infecciones por Citomegalovirus/genética , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Masculino , Femenino , Trasplante Homólogo/efectos adversos , Adulto , Persona de Mediana Edad , Enfermedad Crónica , Antígenos de Histocompatibilidad Menor/genética , Antígenos de Histocompatibilidad Clase I/genética , Polimorfismo de Nucleótido Simple , Alelos , Genotipo , Adulto Joven , Citomegalovirus/fisiología , Adolescente , Riesgo , Factores de Riesgo
4.
Arch Virol ; 169(7): 136, 2024 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-38847927

RESUMEN

Here, we report the first detection of lymphocystis disease virus (LCDV) in Indian glass fish in the Andaman Islands, India. Microscopic examination revealed the presence of whitish clusters of nodules on the fish's skin, fins, and eyes. The histopathology of the nodules revealed typical hypertrophied fibroblasts. Molecular characterization of the major capsid protein (MCP) gene of the virus showed a significant resemblance to known LCDV sequences from Korea and Iran, with 98.92% and 97.85% sequence identity, respectively. Phylogenetic analysis confirmed that the MCP gene sequence of the virus belonged to genotype V. This study represents the first documented case of LCDV in finfish from the Andaman Islands, emphasizing the necessity for continued monitoring and research on the health of aquatic species in this fragile ecosystem.


Asunto(s)
Proteínas de la Cápside , Infecciones por Virus ADN , Enfermedades de los Peces , Iridoviridae , Filogenia , Animales , Enfermedades de los Peces/virología , India , Iridoviridae/genética , Iridoviridae/aislamiento & purificación , Iridoviridae/clasificación , Infecciones por Virus ADN/virología , Infecciones por Virus ADN/veterinaria , Proteínas de la Cápside/genética , Peces/virología , Genotipo , Islas
5.
Sci Rep ; 14(1): 13076, 2024 06 06.
Artículo en Inglés | MEDLINE | ID: mdl-38844526

RESUMEN

Yield multi-location trials associated to geostatistical techniques with environmental covariables can provide a better understanding of G x E interactions and, consequently, adaptation limits of soybean cultivars. Thus, the main objective of this study is understanding the environmental covariables effects on soybean adaptation, as well as predicting the adaptation of soybean under environmental variations and then recommend each soybean cultivar to favorable environments aiming maximize the average yield. The trials were carried out in randomized block design (RBD) with three replicates over three years, in 28 locations. Thirty-two genotypes (commercial and pre-commercial) representing different maturity groups (7.5-8.5) were evaluated in each trial were covering the Edaphoclimatic Region (REC) 401, 402 and 403. The covariables adopted as environmental descriptors were accumulated rainfall, minimum temperature, mean temperature, maximum temperature, photoperiod, relative humidity, soil clay content, soil water avaibility and altitude. After fitting means through Mixed Linear Model, the Regression-Kriging procedure was applied to spacialize the grain yield using environmental covariables as predictors. The covariables explained 32.54% of the GxE interaction, being the soil water avaibility the most important to the adaptation of soybean cultivars, contributing with 7.80%. Yield maps of each cultivar were obtained and, hence, the yield maximization map based on cultivar recommendation was elaborated.


Asunto(s)
Glycine max , Glycine max/genética , Glycine max/crecimiento & desarrollo , Brasil , Genotipo , Geografía , Adaptación Fisiológica , Suelo/química
6.
Orphanet J Rare Dis ; 19(1): 226, 2024 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-38844942

RESUMEN

BACKGROUND: Waardenburg syndrome (WS) is a rare genetic disorder mainly characterized by hearing loss and pigmentary abnormalities. Currently, seven causative genes have been identified for WS, but clinical genetic testing results show that 38.9% of WS patients remain molecularly unexplained. In this study, we performed multi-data integration analysis through protein-protein interaction and phenotype-similarity to comprehensively decipher the potential causative factors of undiagnosed WS. In addition, we explored the association between genotypes and phenotypes in WS with the manually collected 443 cases from published literature. RESULTS: We predicted two possible WS pathogenic genes (KIT, CHD7) through multi-data integration analysis, which were further supported by gene expression profiles in single cells and phenotypes in gene knockout mouse. We also predicted twenty, seven, and five potential WS pathogenic variations in gene PAX3, MITF, and SOX10, respectively. Genotype-phenotype association analysis showed that white forelock and telecanthus were dominantly present in patients with PAX3 variants; skin freckles and premature graying of hair were more frequently observed in cases with MITF variants; while aganglionic megacolon and constipation occurred more often in those with SOX10 variants. Patients with variations of PAX3 and MITF were more likely to have synophrys and broad nasal root. Iris pigmentary abnormality was more common in patients with variations of PAX3 and SOX10. Moreover, we found that patients with variants of SOX10 had a higher risk of suffering from auditory system diseases and nervous system diseases, which were closely associated with the high expression abundance of SOX10 in ear tissues and brain tissues. CONCLUSIONS: Our study provides new insights into the potential causative factors of WS and an alternative way to explore clinically undiagnosed cases, which will promote clinical diagnosis and genetic counseling. However, the two potential disease-causing genes (KIT, CHD7) and 32 potential pathogenic variants (PAX3: 20, MITF: 7, SOX10: 5) predicted by multi-data integration in this study are all computational predictions and need to be further verified through experiments in follow-up research.


Asunto(s)
Factor de Transcripción Asociado a Microftalmía , Factores de Transcripción SOXE , Síndrome de Waardenburg , Síndrome de Waardenburg/genética , Humanos , Factor de Transcripción Asociado a Microftalmía/genética , Factor de Transcripción Asociado a Microftalmía/metabolismo , Factores de Transcripción SOXE/genética , Factores de Transcripción SOXE/metabolismo , Factor de Transcripción PAX3/genética , Factor de Transcripción PAX3/metabolismo , Ratones , Animales , Fenotipo , Genotipo , Mutación/genética
7.
Virol J ; 21(1): 132, 2024 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-38844968

RESUMEN

Tetraparvovirus is an emerging parvovirus infecting a variety of mammals and humans, and associated with human diseases including severe acute respiratory infection and acute encephalitis syndrome. In the present study, a Tetraparvovirus ungulate 1 (formerly known as bovine hokovirus) strain HNU-CBY-2023 was identified and characterized from diseased Chinese Simmental from Hunan province, China. The nearly complete genome of HNU-CBY-2023 is 5346 nt in size and showed genomic identities of 85-95.5% to the known Tetraparvovirus ungulate 1 strains from GenBank, indicating a rather genetic variation. Phylogenetic and genetic divergence analyses indicated that Tetraparvovirus ungulate 1 could be divided into two genotypes (I and II), and HNU-CBY-2023 was clustered into genotype II. This study, for the first time, identified Tetraparvovirus ungulate 1 from domestic cattle from mainland China, which will be helpful to understand the prevalence and genetic diversity of Tetraparvovirus ungulate 1.


Asunto(s)
Enfermedades de los Bovinos , Variación Genética , Genoma Viral , Genotipo , Infecciones por Parvoviridae , Filogenia , Animales , Bovinos , China , Enfermedades de los Bovinos/virología , Enfermedades de los Bovinos/epidemiología , Infecciones por Parvoviridae/veterinaria , Infecciones por Parvoviridae/virología , Infecciones por Parvoviridae/epidemiología , Genoma Viral/genética , Parvovirinae/genética , Parvovirinae/aislamiento & purificación , Parvovirinae/clasificación , Análisis de Secuencia de ADN , ADN Viral/genética , Pueblos del Este de Asia
8.
Virol J ; 21(1): 133, 2024 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-38844960

RESUMEN

BACKGROUND: Early diagnosis and treatment of HPV persistent infection and cervical intraepithelial neoplasia, which have yet to be thoroughly characterized in Guangxi, Southwestern China, are the key preventative measures for the development of cervical cancer in women, particularly in HIV-infected women. METHODS: A retrospective study of 181 patients with HPV infection or cervical intraepithelial neoplasia who received surgical excision of lesions and were prospectively enrolled at the Fourth People's Hospital of Nanning between January 2018 and February 2023 was performed. HPV-infected patients were divided into two subgroups: HIV-infected and HIV/HPV-coinfected patients and compare differences between these groups. RESULTS: HPV16, 18, 52, and 58 were the most prevalent HPV genotypes. High-risk HPV was significantly co-infected with multiple genotypes (P = 0.0332). HIV-infected women were predisposed to HPV infection (P < 0.0001), and the development of cervical cancer at a young age (P = 0.0336) compared to HIV-uninfected women and the loop electrosurgical excision procedure (P = 0.0480) is preferred for the treatment. CONCLUSIONS: HIV infection may increase HPV prevalence and lead to cervical cancer development at a young age. The loop electrosurgical excision procedure is an efficient evaluation and treatment strategy for HIV-infected women suffering from cervical intraepithelial neoplasia.


Asunto(s)
Coinfección , Infecciones por VIH , Infecciones por Papillomavirus , Displasia del Cuello del Útero , Neoplasias del Cuello Uterino , Humanos , Femenino , Infecciones por VIH/complicaciones , Infecciones por Papillomavirus/complicaciones , Infecciones por Papillomavirus/virología , Estudios Retrospectivos , Adulto , Persona de Mediana Edad , Displasia del Cuello del Útero/virología , Displasia del Cuello del Útero/cirugía , Displasia del Cuello del Útero/complicaciones , Neoplasias del Cuello Uterino/virología , Neoplasias del Cuello Uterino/cirugía , Coinfección/virología , China/epidemiología , Genotipo , Prevalencia , Papillomaviridae/genética , Papillomaviridae/aislamiento & purificación , Infección Persistente/virología , Adulto Joven
9.
Medicine (Baltimore) ; 103(23): e38333, 2024 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-38847697

RESUMEN

The current research aims to investigate the relationship between Interleukin-17 (IL-17) polymorphism and the risk of recurrent pregnancy loss (RPL) within a Chinese population. Totally, 120 patients with RPL were selected and enrolled as the experiment group. Additionally, 210 healthy individuals undergoing routine physical examinations during the same period served as the control group. The IL-17 gene polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism method. The IL-17 rs2275913 polymorphism exhibited 3 genotypes: GG, GA, and AA. Significant associations were observed with the AA genotype and A allele (all P < .05), indicating women with the AA genotype were 2.06 times more likely to experience RPL compared to those with the GG genotype. Similarly, women carrying the A allele faced a 1.63 times higher risk of RPL than those with the G allele. Regarding the IL-17 rs763780 polymorphism, which also presented 3 genotypes (TT, TC, CC), significant associations were noted for the CC genotype and C allele (all P < .05). Women with the CC genotype had a 1.84 times greater risk of suffering from RPL compared to those with the TT genotype, and those with the C allele were 1.51 times more likely to experience RPL than those with the T allele. The IL-17 rs2275913 and rs763780 polymorphisms contribute an increased risk to RPL in the Chinese population. Further studies, with larger sample sizes and more rigorous designs, are necessary to validate or replicate our current results.


Asunto(s)
Aborto Habitual , Pueblo Asiatico , Predisposición Genética a la Enfermedad , Interleucina-17 , Polimorfismo de Nucleótido Simple , Humanos , Femenino , Aborto Habitual/genética , Interleucina-17/genética , Adulto , Embarazo , China/epidemiología , Pueblo Asiatico/genética , Estudios de Casos y Controles , Genotipo , Alelos , Pueblos del Este de Asia
10.
Parasitol Res ; 123(6): 233, 2024 Jun 08.
Artículo en Inglés | MEDLINE | ID: mdl-38850488

RESUMEN

Enterocytozoon bieneusi is a common cause of human microsporidiosis and can infect a variety of animal hosts worldwide. In Thailand, previous studies have shown that this parasite is common in domestic animals. However, information on the prevalence and genotypes of this parasite in other synanthropic wildlife, including bats, remains limited. Several pathogens have been previously detected in bats, suggesting that bats may serve as a reservoir for this parasite. In this study, a total of 105 bat guano samples were collected from six different sites throughout Thailand. Of these, 16 from Chonburi (eastern), Ratchaburi (western), and Chiang Rai (northern) provinces tested positive for E. bieneusi, representing an overall prevalence of 15.2%. Based on ITS1 sequence analysis, 12 genotypes were identified, including two known genotypes (D and type IV) frequently detected in humans and ten novel potentially zoonotic genotypes (TBAT01-TBAT10), all belonging to zoonotic group 1. Lyle's flying fox (Pteropus lylei), commonly found in Southeast Asia, was identified as the host in one sample that was also positive for E. bieneusi. Network analysis of E. bieneusi sequences detected in this study and those previously reported in Thailand also revealed intraspecific divergence and recent population expansion, possibly due to adaptive evolution associated with host range expansion. Our data revealed, for the first time, multiple E. bieneusi genotypes of zoonotic significance circulating in Thai bats and demonstrated that bat guano fertilizer may be a vehicle for disease transmission.


Asunto(s)
Quirópteros , Enterocytozoon , Genotipo , Microsporidiosis , Filogenia , Quirópteros/parasitología , Quirópteros/microbiología , Animales , Tailandia/epidemiología , Enterocytozoon/genética , Enterocytozoon/aislamiento & purificación , Enterocytozoon/clasificación , Microsporidiosis/veterinaria , Microsporidiosis/epidemiología , Microsporidiosis/microbiología , Prevalencia , Humanos , Análisis de Secuencia de ADN , Zoonosis/parasitología , ADN Espaciador Ribosómico/genética , ADN de Hongos/genética
12.
BMC Infect Dis ; 24(1): 558, 2024 Jun 04.
Artículo en Inglés | MEDLINE | ID: mdl-38834951

RESUMEN

In January 2020, a different cervical cancer screening program started in Germany. Women above the age of 35 are recommended to have a combined HPV and cytology swab every three years. Showing persistent high-risk human papillomavirus (hrHPV), cytologic negative cervical samples at baseline and after 12 months, patients are referred to colposcopy. Entailing considerable additional workload due to the required colposcopies, we analyzed the risk of high-grade cervical intraepithelial neoplasia (CIN 3) in cytologic negative and persistent hrHPV women according to their hrHPV genotypes.Methods In this single center retrospective study, patients with persistent hrHPV, cytology negative cervical samples from our certified Colposcopy Unit in 2020 and 2021 were analyzed. Patient demographics, hrHPV types, biopsy rates and histological reports were collected.Results During the study, 69 patients were enrolled. Most frequent hrHPV genotypes were: hrHPV other 72.5%; HPV 16, 20.3% and HPV 18, 7.2%. Colposcopy showed no or minor changes in 92.7% and major changes in 7.2%. CIN 3 was found in 7 patients (10.1%). Prevalence of CIN 3 by hrHPV genotypes was 27.3% for HPV16, 20.0% for HPV18 and 7.1% for HPVO. A statistically significant dependency between hrHPV and cervical intraepithelial neoplasia was demonstrated (p = 0.048).Conclusion Within this single center study of persistent hrHPV, cytologic negative samples, patients with HPV 16 were more likely to have high-grade disease compared to other hrHPV subtypes. Larger prospective randomized trials are needed to substantiate our results and obtain adjusted cervical cancer screening time intervals according to the hrHPV genotypes.


Asunto(s)
Colposcopía , Genotipo , Papillomaviridae , Infecciones por Papillomavirus , Displasia del Cuello del Útero , Neoplasias del Cuello Uterino , Humanos , Femenino , Estudios Retrospectivos , Infecciones por Papillomavirus/virología , Adulto , Persona de Mediana Edad , Neoplasias del Cuello Uterino/virología , Neoplasias del Cuello Uterino/patología , Displasia del Cuello del Útero/virología , Displasia del Cuello del Útero/patología , Displasia del Cuello del Útero/epidemiología , Papillomaviridae/genética , Papillomaviridae/aislamiento & purificación , Papillomaviridae/clasificación , Alemania/epidemiología , Anciano , Detección Precoz del Cáncer , Cuello del Útero/virología , Cuello del Útero/patología , Virus del Papiloma Humano
13.
Orphanet J Rare Dis ; 19(1): 224, 2024 Jun 04.
Artículo en Inglés | MEDLINE | ID: mdl-38835089

RESUMEN

BACKGROUND: Factor XI (FXI) deficiency is an autosomal hemorrhagic disorder characterized by reduced plasma FXI levels. Multiple ancestral variants in the F11 gene have been identified in Ashkenazi Jews and other selected European populations. However, there are few reports of predominant variants in Chinese and/or East Asian populations. The aim of this study is to characterize the genotypes and phenotypes of FXI deficiency and identify the predominant variants. RESULTS: Of the 41 FXI-deficient patients, 39 exhibited severe FXI defects, considerably more than those with partial defects. The APTT levels showed a negative correlation with FXI activity levels (coefficient=-0.584, P < .001). Only nine patients experienced mild bleeding, including one partially defective patient and eight severely defective patients. The majority of patients were referred for preoperative screenings (n = 22) and checkups (n = 14). Genetic analysis revealed that 90% of the patients had genetic defects, with 2, 16, and 19 cases of heterozygous, homozygous, and compound heterozygous patients, respectively. Seventeen variants were detected in the F11 gene (6 novel), including eleven missense variants, four nonsense variants, and two small deletions scattered throughout the F11. Of the 11 missense variants, six have not yet been studied for in vitro expression. Protein modeling analyses indicated that all of these variants disrupted local structural stability by altering side-chain orientation and hydrogen bonds. Nine variants, consisting of three missense and six null variants, were detected with a frequency of two or more. The highest allele frequency was observed in p.Q281* (21.25%), p.W246* (17.50%), p.Y369* (12.50%), and p.L442Cfs*8 (12.50%). The former two were variants specific to East Asia, while the remaining two were southeast China-specific variants. CONCLUSION: Our population-based cohort demonstrated that no correlation between the level of FXI activity and the bleeding severity in FXI deficiency. Additionally, the prevalence of FXI deficiency may have been underestimated. The nonsense p.Q281* was the most common variant in southeast China, suggesting a possible founder effect.


Asunto(s)
Deficiencia del Factor XI , Factor XI , Humanos , Deficiencia del Factor XI/genética , Femenino , China/epidemiología , Masculino , Factor XI/genética , Adulto , Persona de Mediana Edad , Adolescente , Adulto Joven , Niño , Genotipo , Anciano
14.
Parasites Hosts Dis ; 62(2): 251-256, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38835266

RESUMEN

The global resurgence of bed bug infestations, exacerbated by increasing international travel, trade, and insecticide resistance, has significantly impacted Korea. This study identified the bed bug species and performed pyrethroid resistance genotyping of recently resurgent bed bugs in Korea. Thirty-one regional bed bug samples were collected from 5 administrative regions: Gyeonggi-do (n=14), Seoul (n=13), Busan (n=2), Jeonllanam-do (n=1), and Chungcheongbuk-do (n=1). The samples underwent morphological and molecular identification. Twenty-four regional samples (77.4%) were identified as the tropical bed bug, Cimex hemipterus, and the remaining 7 regional samples (22.6%) were identified as the common bed bug, Cimex lectularius. The C. hemipterus regional samples carried at least three mutations associated with knockdown resistance (kdr), including 2 super-kdr mutations. The 7 C. lectularius regional samples possessed at least one of the 3 kdr-related mutations associated with pyrethroid resistance. This study confirms that the prevalent bed bug species recently in Korea is C. hemipterus, replacing the previously endemic C. lectularius. Additionally, the rise in bed bug populations with pyrethroid resistance underscores the necessity of introducing alternative insecticides.


Asunto(s)
Chinches , Genotipo , Resistencia a los Insecticidas , Insecticidas , Piretrinas , Animales , Chinches/genética , Chinches/efectos de los fármacos , Piretrinas/farmacología , República de Corea , Resistencia a los Insecticidas/genética , Insecticidas/farmacología , Mutación
15.
Technol Cancer Res Treat ; 23: 15330338241246457, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38836311

RESUMEN

Objectives: Exploring the relationship between the hOGG1 rs1052133 polymorphism and the occurrence of nasopharyngeal carcinoma (NPC). Methods: PubMed, Web of Science, Scopus, CNKI, Wanfangdata, and VIP were used to search for studies and the NOS evaluation scale was used to evaluate the quality. All studies were grouped according to different genotypes. The Cochrane's Q test and I2 test were used for heterogeneity evaluations. If heterogeneity was small, the fixed effects model was used, and conversely, the random effects model was used. Publication bias was also detected. P < .05 in all results indicated statistically significant. Results: We ultimately included 6 studies with 2021 NPC patients in the study group and 2375 healthy populations in the control group. After meta-analysis, it was found that the total OR value of the "Ser/Cys (CG) vs Ser/Ser (CC)" group was 1.00 (95% CI: 0.85-1.18) and the "Cys/Cys (GG) vs Ser/Ser (CC)" group was 1.06 (95% CI: 0.87-1.28). These results were not statistically significant (P > .05). Furthermore, the integrated total OR values of each group were not statistically significant with or without the smoking history, even in other genotype models (Allele, Dominant, Recessive, and Additive) (P > .05). Conclusion: There is no clear correlation between the hOGG1 rs1052133 polymorphism and the occurrence of NPC, even with or without the smoking history.


Asunto(s)
Alelos , ADN Glicosilasas , Predisposición Genética a la Enfermedad , Genotipo , Carcinoma Nasofaríngeo , Polimorfismo de Nucleótido Simple , Humanos , Carcinoma Nasofaríngeo/genética , ADN Glicosilasas/genética , Neoplasias Nasofaríngeas/genética , Oportunidad Relativa , Estudios de Asociación Genética , Sesgo de Publicación , Estudios de Casos y Controles
16.
PLoS One ; 19(6): e0304869, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38837984

RESUMEN

OBJECTIVE: Epilepsy patients exhibit considerable differences in their response to sodium valproate (VPA) therapy, a phenomenon that might be attributed to individual genetic variances. The role of genetic variations, specifically in sodium channels encoded by SCN1A and SCN2A genes, in influencing the effectiveness of VPA in treating epilepsy is still debated. This research focuses on examining the impact of these genetic polymorphisms on the efficacy of VPA therapy among pediatric epilepsy patients in China. METHODS: Five single nucleotide polymorphisms (SNPs), including SCN1A (rs10188577, rs2298771, rs3812718) and SCN2A (rs2304016, rs17183814), were genotyped in 233 epilepsy patients undergoing VPA therapy. The associations between genotypes and the antiepileptic effects of VPA were assessed, with 128 patients categorized as VPA responders and 105 as VPA non-responders. RESULTS: In the context of VPA monotherapy, SCN1A rs2298771 and SCN2A rs17183814 were found to be significantly associated with VPA response (P< 0.05). CONCLUSION: Our study suggests the findings of this investigation indicate that the polymorphisms SCN1A rs2298771 and SCN2A rs17183814 could potentially act as predictive biomarkers for the responsiveness to VPA among Chinese epilepsy patients.


Asunto(s)
Anticonvulsivantes , Epilepsia , Canal de Sodio Activado por Voltaje NAV1.1 , Canal de Sodio Activado por Voltaje NAV1.2 , Polimorfismo de Nucleótido Simple , Ácido Valproico , Humanos , Canal de Sodio Activado por Voltaje NAV1.1/genética , Ácido Valproico/uso terapéutico , Canal de Sodio Activado por Voltaje NAV1.2/genética , Niño , Masculino , Femenino , Epilepsia/tratamiento farmacológico , Epilepsia/genética , Anticonvulsivantes/uso terapéutico , Preescolar , China , Pueblo Asiatico/genética , Adolescente , Resultado del Tratamiento , Genotipo , Lactante , Pueblos del Este de Asia
17.
Hepatol Commun ; 8(6)2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38836837

RESUMEN

BACKGROUND: Abnormal phospholipid metabolism is linked to metabolic dysfunction-associated steatotic liver disease (MASLD) development and progression. We aimed to clarify whether genetic variants of phospholipid metabolism modify these relationships. METHODS: This case-control study consecutively recruited 600 patients who underwent MRI-based proton density fat fraction examination (240 participants with serum metabonomics analysis, 128 biopsy-proven cases) as 3 groups: healthy control, nonobese MASLD, and obese MASLD, (n = 200 cases each). Ten variants of phospholipid metabolism-related genes [phospholipase A2 Group VII rs1805018, rs76863441, rs1421378, and rs1051931; phospholipase A2 receptor 1 (PLA2R1) rs35771982, rs3828323, and rs3749117; paraoxonase-1 rs662 and rs854560; and ceramide synthase 4 (CERS4) rs17160348)] were genotyped using SNaPshot. RESULTS: The T-allele of CERS4 rs17160348 was associated with a higher risk of both obese and nonobese MASLD (OR: 1.95, 95% CI: 1.20-3.15; OR: 1.76, 95% CI: 1.08-2.86, respectively). PLA2R1 rs35771982-allele is a risk factor for nonobese MASLD (OR: 1.66, 95% CI: 1.11-1.24), moderate-to-severe steatosis (OR: 3.24, 95% CI: 1.96-6.22), and steatohepatitis (OR: 2.61, 95% CI: 1.15-3.87), while the paraoxonase-1 rs854560 T-allele (OR: 0.50, 95% CI: 0.26-0.97) and PLA2R1 rs3749117 C-allele (OR: 1.70, 95% CI: 1.14-2.52) are closely related to obese MASLD. After adjusting for sphingomyelin level, the effect of the PLA2R1 rs35771982CC allele on MASLD was attenuated. Furthermore, similar effects on the association between the CERS4 rs17160348 C allele and MASLD were observed for phosphatidylcholine, phosphatidic acid, sphingomyelin, and phosphatidylinositol. CONCLUSIONS: The mutations in PLA2R1 rs35771982 and CERS4 rs17160348 presented detrimental impact on the risk of occurrence and disease severity in nonobese MASLD through altered phospholipid metabolism.


Asunto(s)
Genotipo , Receptores de Fosfolipasa A2 , Humanos , Masculino , Femenino , Persona de Mediana Edad , Estudios de Casos y Controles , Receptores de Fosfolipasa A2/genética , Fosfolípidos/sangre , Adulto , Obesidad/genética , Polimorfismo de Nucleótido Simple , Hígado Graso/genética , Predisposición Genética a la Enfermedad/genética
18.
BMC Bioinformatics ; 25(1): 206, 2024 Jun 05.
Artículo en Inglés | MEDLINE | ID: mdl-38840038

RESUMEN

BACKGROUND: Bisulfite sequencing (BS-Seq) is a fundamental technique for characterizing DNA methylation profiles. Genotype calling from bisulfite-converted BS-Seq data allows allele-specific methylation analysis and the concurrent exploration of genetic and epigenetic profiles. Despite various methods have been proposed, single nucleotide polymorphisms (SNPs) calling from BS-Seq data, particularly for SNPs on chromosome X and in the presence of contaminative data, poses ongoing challenges. RESULTS: We introduce bsgenova, a novel SNP caller tailored for bisulfite sequencing data, employing a Bayesian multinomial model. The performance of bsgenova is assessed by comparing SNPs called from real-world BS-Seq data with those from corresponding whole-genome sequencing (WGS) data across three human cell lines. bsgenova is both sensitive and precise, especially for chromosome X, compared with three existing methods. Moreover, in the presence of low-quality reads, bsgenova outperforms other methods notably. In addition, bsgenova is meticulously implemented, leveraging matrix imputation and multi-process parallelization. Compared to existing methods, bsgenova stands out for its speed and efficiency in memory and disk usage. Furthermore, bsgenova integrates bsextractor, a methylation extractor, enhancing its flexibility and expanding its utility. CONCLUSIONS: We introduce bsgenova for SNP calling from bisulfite-sequencing data. The source code is available at https://github.com/hippo-yf/bsgenova under license GPL-3.0.


Asunto(s)
Metilación de ADN , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN , Sulfitos , Humanos , Metilación de ADN/genética , Sulfitos/química , Análisis de Secuencia de ADN/métodos , Genotipo , Programas Informáticos , Secuenciación Completa del Genoma/métodos , Teorema de Bayes
19.
Virol J ; 21(1): 129, 2024 Jun 05.
Artículo en Inglés | MEDLINE | ID: mdl-38840267

RESUMEN

BACKGROUND: Global human activities were significantly impacted by the emergence of the coronavirus disease 2019 (COVID-19) pandemic caused by the 2019 novel coronavirus. This study aimed to investigate the prevalence and genotype distribution of HPV infection in Central Fujian Province during the pandemic. METHODS: Cervical samples were collected from 21,612 outpatients and 12,664 females who underwent physical examinations and HPV screening at the People's Hospital of Fujian Province in Fuzhou from April 2020 to April 2023. HPV detection and genotyping were conducted using PCR hybridization. RESULTS: The overall HPV infection rate was 16.1% during the COVID-19 pandemic, with the outpatient group exhibiting a greater infection rate (19.0%) than did the healthy group (12.3%). The top five high-risk HPV (HR-HPV) genotypes in both groups were HPV52, HPV53, HPV58, HPV16, and HPV51. Additionally, HPV81 and HPV43 were the two most common low-risk HPV (LR-HPV) genotypes in the patient group, while HPV81 and HPV42 were the two most common LR-HPV genotypes in the healthy group. The highest prevalence of HPV infection was observed in individuals aged ≤ 24 years (28.4%, 95% CI 25.9-30.9), followed by those aged ≥ 55 years (23.6%, 95% CI 21.6-24.7) and other age groups. The prevalence decreased from 23.0% (95% CI 22.4-23.7) in 2018-2019 to 13.8% (95% CI 12.0-15.5) in 2023. CONCLUSION: This study provides valuable insights into the prevalence and genotypes of HPV infection in the female population of Central Fujian Province from 2020 to 2023. The findings indicate that the prevalence of HPV infection in Central Fujian Province remains relatively low compared to the national average. Furthermore, the prevalence of HPV decreased during the COVID-19 pandemic; however, as the pandemic waned, there was potential for an increase in HPV infection rates. Therefore, it is crucial to strengthen HPV screening and vaccination strategies to prevent the potential spread of HPV.


Asunto(s)
COVID-19 , Genotipo , Papillomaviridae , Infecciones por Papillomavirus , Humanos , Femenino , Infecciones por Papillomavirus/epidemiología , Infecciones por Papillomavirus/virología , China/epidemiología , Adulto , Prevalencia , COVID-19/epidemiología , COVID-19/virología , Persona de Mediana Edad , Adulto Joven , Papillomaviridae/genética , Papillomaviridae/clasificación , Papillomaviridae/aislamiento & purificación , SARS-CoV-2/genética , SARS-CoV-2/aislamiento & purificación , SARS-CoV-2/clasificación , Adolescente , Anciano , Cuello del Útero/virología , Virus del Papiloma Humano
20.
PLoS One ; 19(6): e0303691, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38843264

RESUMEN

Both sexually selected traits and mate preferences for these traits can be context dependent, yet how variation in preferred traits could select for context dependent preferences has rarely been examined. The signal reliability hypothesis predicts that mate preferences vary across contexts (e.g., environments) in relation to the reliability of the information preferred traits provide in those contexts. Extensive variation in copy number of mc4r B alleles on the Y-chromosome that associates with male size in Xiphophorus multilineatus allowed us to use a split-sibling design to determine if male size is more likely to provide information about male genotype (i.e., dam) when males were reared in a warm as compared to a cold environment. We then examined strength of preference for male size by females reared in the same two environments. We found that males were larger in the cold environment, but male size was more variable across dams in the warm environment, and therefore male size would be a more reliable indicator of dam (i.e., genetics) in the warm environment. Females reared in the warm environment had stronger mate preferences based on male size than cold reared females, with a significant influence of dam on strength of preference. Therefore, strength of female preference for male size was influenced by the temperature in which they were reared, with the direction of the difference across treatments supporting the signal reliability hypothesis. Understanding how the reliability of male traits can select for contextual variation in the strength of the female mate preferences will further our discovery of adaptive mate preferences. For example, a relationship between the strength of a female's mate preference and their growth rates was detected in the context where females had a preference based on male size, supporting a hypothesis from previous work with this species of disassortative mating in relation to growth rates to mitigate a documented growth-mortality tradeoff.


Asunto(s)
Preferencia en el Apareamiento Animal , Temperatura , Animales , Femenino , Masculino , Preferencia en el Apareamiento Animal/fisiología , Ciprinodontiformes/fisiología , Tamaño Corporal , Receptor de Melanocortina Tipo 4/genética , Genotipo
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