genotypic distribution
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2023 ◽  
Vol 83 ◽  
Author(s):  
N. Ullah ◽  
M. A. Kakakhel ◽  
Y. Bai ◽  
L. Xi ◽  
I. Khan ◽  
...  

Abstract Hepatitis C virus (HCV) is the serious global public health burden of liver disease. Approximately 170 million people in the world are infected with (HCV). In Pakistan, where the disease has high occurrence rate. The present study envisages an up-to-date prevalence of HCV and genotypic distribution in the general population of Mardan District, Khyber Pakhtunkhwa (KP), Pakistan. The blood samples from 6,538 individuals including 3,263 males and 3,275 females were analyzed for hepatitis C surface antigen by Immuno-chromatographic test (ICT), Enzyme-linked immunosorbent assay (ELISA), and reverse transcription-polymerase chain reaction (PCR). It was found that 396 (12.13%) out of 3263 individuals contained antibodies in their blood against HCV, while among the different age groups, the highest incidences of HCV antibodies were found in the 31-40 age group (11.01%). The ICT positive samples were further screened by nested PCR to determine the existence of active HCV-RNA. It was identified that 7.11% (3263) of the total population (6538) tested was positive, among which the 461 (14.07%) females possessed antibodies in their blood against HCV. Our data showed total HCV infection in the investigated population was 5.78%. Higher percentage of HCV prevalence was detected in males than females in the age group 31-40 and 41-50. To compare the prevalence of HCV genotypes age-wise in male and female genotype 3a was found most prevalent genotype followed by 1a, 2a and 3b, respectively.


Nutrients ◽  
2022 ◽  
Vol 14 (2) ◽  
pp. 360
Author(s):  
Ricardo Usategui-Martín ◽  
Daniel-Antonio De Luis-Román ◽  
José María Fernández-Gómez ◽  
Marta Ruiz-Mambrilla ◽  
José-Luis Pérez-Castrillón

The vitamin D receptor (VDR), a member of the nuclear receptor superfamily of transcriptional regulators, is crucial to calcitriol signalling. VDR is regulated by genetic and environmental factors and it is hypothesised that the response to vitamin D supplementation could be modulated by genetic variants in the VDR gene. The best studied polymorphisms in the VDR gene are Apal (rs7975232), BsmI (rs1544410), Taql (rs731236) and Fokl (rs10735810). We conducted a systematic review and meta-analysis to evaluate the response to vitamin D supplementation according to the BsmI, TaqI, ApaI and FokI polymorphisms. We included studies that analysed the relationship between the response to vitamin D supplementation and the genotypic distribution of these polymorphisms. We included eight studies that enrolled 1038 subjects. The results showed no significant association with the BsmI and ApaI polymorphisms (p = 0.081 and p = 0.63) and that the variant allele (Tt+tt) of the TaqI polymorphism and the FF genotype of the FokI variant were associated with a better response to vitamin D supplementation (p = 0.02 and p < 0.001). In conclusion, the TaqI and FokI polymorphisms could play a role in the modulation of the response to vitamin D supplementation, as they are associated with a better response to supplementation.


2021 ◽  
Vol 25 (2) ◽  
pp. 89-95
Author(s):  
S. S. Sahoo ◽  
O. K. Choudhari ◽  
J. Bhadra ◽  
B. C. Kabi

Relevance. Osteoarthritis (OA) is one of the chronic debilitating condition mostly seen in the aged population. The etiology behind the OA is multifactorial and the exact cause of the disease often remains uncertain. Apart from the conventional risk factors, there are the speculations of role of genetics playing a pivotal role in the causation of OA. The available literature showed BTNL2 gene polymorphism association with risk of Osteoarthritis whether the same relation is present in north Indian population needs to be elucidated. Objective. To find the association between single nucleotide polymorphism (SNP) (rs10947262) in BTNL2 gene and the susceptibility in knee Osteoarthritis (OA) subjects from northern Indian population. Materials and Methods. Blood samples of 100 patients of knee osteoarthritis and 100 healthy subjects were collected after institutional ethical clearance and participants consent. The BTNL2 gene fragment was amplified using Amplification Refractory Mutation System (ARMS-PCR) with predesigned primers after DNA extraction. The corresponding product bands were identified on the gel electrophoresis for 200 samples and the results were statistically analyzed. Results and Discussion. The genotypic distribution of the SNP followed Hardy-Weinberg Equilibrium. The genotype frequency analysis of the polymorphism was statistically significant (2=7.788; P=0.005) with Odds Ratio of CT+TT/CC: OR=2.303; P=0.008 revealing association of BTNL2 polymorphism with risk of Knee Osteoarthritis. Conclusion. The SNP (rs10947262) in the BTNL2 gene region is associated with risk of knee osteoarthritis.


Author(s):  
A. M. Rodrigues D. M. Teixeira ◽  
R. S. Bandeira J. A. M. Siqueira ◽  
C. S. Júnior M. S. S. Lucena ◽  
L. S. Soares Y. B. Gabbay ◽  
L. D. Silva

Introduction: Enteric viruses, including noroviruses and adenovirus are pathogens associated with outbreaks and sporadic cases of gastroenteritis in worldwide. This study aimed investigate cases of gastroenteritis caused by noroviruses and adenoviruses in children attending Public Daycare Centers in Brazil. Material and Methods: In this study, 135 fecal samples were examined using RT-PCR assays, sequencing and phylogenetic analysis. Results: The prevalence for norovirus and adenovirus was 13.3% (18/135) and 58.5% (79/135), respectively. Noroviruses were more frequent in symptomatic individuals (22.7%), whereas adenoviruses were more observed in asymptomatic children (61.8%). Three norovirus genotypes were detected (GII.P4, GII.P7, GII.P12) and adenovirus strains were classified into five species (A-F). The data revealed the dynamics of genotypic distribution of noroviruses and adenoviruses among children attending day care centers. The data indicated that symptomatic and asymptomatic children were infected with several strains of NoV e AdV. The additional evolutionary analyses need to be further investigated.


2021 ◽  
pp. 1-3
Author(s):  
Alan E. Stark

Abstract The Hardy–Weinberg law of population genetics is usually associated with the notion of random mating of parents. A numerical example for a triallelic autosomal locus shows that an uncountable set of mating combinations can maintain Hardy–Weinberg proportions. Therefore, one cannot infer random mating in a population from the observation of Hardy–Weinberg equilibrium. The mating system which ensures that the genotypic distribution of offspring is the same as that of the parents is specified.


Author(s):  
Kuhu Chatterjee ◽  
Rohit Gupta ◽  
Balram Ji Omar ◽  
Pratima Gupta ◽  
Deepjyoti Kalita

Author(s):  
Isabel Inês M. de Pina-Araujo ◽  
Marco Aurélio Horta ◽  
Francisco Campello do Amaral Mello ◽  
Caroline Cordeiro Soares

Cells ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 601
Author(s):  
Agne Pasvenskaite ◽  
Rasa Liutkeviciene ◽  
Greta Gedvilaite ◽  
Alvita Vilkeviciute ◽  
Vykintas Liutkevicius ◽  
...  

Recent studies have described the dichotomous function of IL-9 in various cancer diseases. However, its function has still not been analysed in laryngeal squamous cell carcinoma (LSCC). In the present study, we evaluated five single nucleotide polymorphisms (SNPs) of IL-9 (rs1859430, rs2069870, rs11741137, rs2069885, and rs2069884) and determined their associations with the patients’ five-year survival rate. Additionally, we analysed serum IL-9 levels using an enzyme-linked immunosorbent assay. Three hundred LSCC patients and 533 control subjects were included in this study. A significant association between the patients’ survival rate and distribution of IL-9 rs1859430 variants was revealed: patients carrying AA genotype had a higher risk of dying (p = 0.005). Haplotypes A-G-C-G-G of IL-9 (rs1859430, rs2069870, rs11741137, rs2069885, and rs2069884) were associated with 47% lower odds of LSCC occurrence (p = 0.035). Serum IL-9 levels were found detectable in three control group subjects (8.99 ± 12.03 pg/mL). In summary, these findings indicate that the genotypic distribution of IL-9 rs1859430 negatively influences the five-year survival rate of LSCC patients. The haplotypes A-G-C-G-G of IL-9 (rs1859430, rs2069870, rs11741137, rs2069885, and rs2069884) are associated with the lower odds of LSCC development.


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