keyword
https://read.qxmd.com/read/38659607/the-association-between-histidine-rich-glycoprotein-rs10770-genotype-and-recurrent-miscarriage-in-iranian-women
#21
JOURNAL ARTICLE
Mahbobeh Latifimehr, Leila Nazari, Ali Asghar Rastegari, Zahra Zamani, Pezhman Fard-Esfahani
PURPOSE: Recurrent miscarriage (RM) is a significant reproductive concern affecting numerous women globally. Genetic factors are believed to play a crucial role in RM, making the histidine-rich glycoprotein (HRG) gene, a topic of interest due to its potential involvement in angiogenesis. This study is aimed at investigating the association between the HRG rs10770 genotype and RM. METHOD: Blood samples were collected from a total of 200 women at the beginning of the study...
2024: BioMed Research International
https://read.qxmd.com/read/38656404/association-of-gene-polymorphisms-and-the-decreased-expression-of-long-non-coding-rna-loc553103-with-rheumatoid-arthritis
#22
JOURNAL ARTICLE
Sha-Sha Tao, Xi Fang, Liang-Zi Xu, Ruo-Di Zhang, Qing-Qing Luo, Jian Tang, Xiao-Fan Dai, Shu-Zhen Xu, Xiao-Ke Yang, Hai-Feng Pana
BACKGROUND: Long non-coding RNAs (lncRNAs) are involved in many key bioprocesses, including the occurrence and development of rheumatoid arthritis (RA). We aimed to analyze the association of genetic variants of long non-coding RNA LOC553103 and its peripheral blood mononuclear cells (PBMC) expression with RA. METHODS: We enrolled 457 RA patients and 551 healthy controls and conducted a case-control study to analyze the relationship between LOC553103 gene rs272879 and the susceptibility of RA by TaqMan single nucleotide polymorphism genotyping...
April 24, 2024: Postgraduate Medical Journal
https://read.qxmd.com/read/38655275/correlation-of-dna-load-genotyping-and-clinical-phenotype-of-mycoplasma-pneumoniae-infection-in-children
#23
JOURNAL ARTICLE
Wei Wang, Lu Wang, Zhaoqing Yin, Shujuan Zeng, Guohua Yao, Yuqiao Liu, Yulian Fang, Cuian Ma, Hualei Cui
INTRODUCTION: This study aimed to investigate the correlation between Mycoplasma pneumoniae (MP) - DNA load in the bronchoalveolar lavage fluid (BALF) of children with MP pneumonia (MPP) and its subtypes, relevant laboratory data, imaging, extrapulmonary complications in infected children, and its clinical significance in evaluating the disease. METHODS: Children hospitalized with MPP at Tianjin Children's Hospital between December 2017 and December 2020 were selected for the study, excluding those with mixed viral, bacterial, and fungal infections...
2024: Frontiers in Pediatrics
https://read.qxmd.com/read/38650775/genetic-association-of-icam-1-rs5498-gene-polymorphism-with-susceptibility-to-stage-ii-grade-b-periodontitis-a-case-control-study-in-south-indian-population
#24
JOURNAL ARTICLE
Devika Bajpai, Arvina Rajasekar
INTRODUCTION: In the contemporary perspective, periodontitis is considered a complex issue triggered and perpetuated by bacteria but strongly influenced by the way the body reacts to bacterial plaque. Recent research has indicated that variations in genes might have an impact on the development of periodontitis. This study was conducted to explore a probable link between the genetic variations in intercellular adhesion molecule-1 ( ICAM-1 ) represented by rs5498 and the occurrence of periodontitis...
March 2024: Curēus
https://read.qxmd.com/read/38650655/effects-of-tcte1-knockout-on-energy-chain-transportation-and-spermatogenesis-implications-for-male-infertility
#25
JOURNAL ARTICLE
Marta Olszewska, Agnieszka Malcher, Tomasz Stokowy, Nijole Pollock, Andrea J Berman, Sylwia Budkiewicz, Marzena Kamieniczna, Hanna Jackowiak, Joanna Suszynska-Zajczyk, Piotr Jedrzejczak, Alexander N Yatsenko, Maciej Kurpisz
STUDY QUESTION: Is the Tcte1 mutation causative for male infertility? SUMMARY ANSWER: Our collected data underline the complex and devastating effect of the single-gene mutation on the testicular molecular network, leading to male reproductive failure. WHAT IS KNOWN ALREADY: Recent data have revealed mutations in genes related to axonemal dynein arms as causative for morphology and motility abnormalities in spermatozoa of infertile males, including dysplasia of fibrous sheath (DFS) and multiple morphological abnormalities in the sperm flagella (MMAF)...
2024: Human Reproduction Open
https://read.qxmd.com/read/38650633/correlation-analysis-of-nampt-rs61330082-polymorphism-in-type-2-diabetes-mellitus-combined-with-hypertension
#26
JOURNAL ARTICLE
Chao Zuo, Yi Liu, Ziqiang Wang, Jing Cheng, Dongli Yang, Huasong Gong, Yu Wang, Yongchao Qiao
INTRODUCTION: This study aimed to investigate the association of Nicotinamide phosphoribosyl transferase (NAMPT) rs61330082 polymorphism with co-morbid hypertension (HTN) and the progression of hypertension in Chinese patients with type 2 diabetes mellitus (T2DM). METHODS: A total of 453 T2DM patients were genotyped for the polymorphism of rs61330082 using SNP-scan high-throughput technology. These patients were divided into T2DM group (261 patients) and T2DM combined with hypertension group (T2MH, 192 patients)...
2024: Diabetes, Metabolic Syndrome and Obesity
https://read.qxmd.com/read/38650162/e-selectin-is-associated-with-stable-angina-and-myocardial-infarction-in-a-sample-of-kurdish-population
#27
JOURNAL ARTICLE
Lajan Qasim Rahman, Ruqaya Muhammad Ghareeb
Endothelial dysfunction is the main factor that causes the onset of CAD. Leukocyte adhesion to the endothelium of the active blood artery wall has been demonstrated to be one of the early indicators of arteriosclerosis. This process is regulated by selectins. The purpose of this study is to ascertain the relationship between the polymorphisms in the E-selectin gene that have been linked to ischemic heart disease. We looked at the functional impact of the E-selectin gene polymorphism 7170G>C in Iraqi patients with IHD...
March 31, 2024: Cellular and Molecular Biology
https://read.qxmd.com/read/38648773/association-of-increased-homocysteine-levels-with-impaired-folate-metabolism-and-vitamin-b-deficiency-in-early-onset-multiple-sclerosis
#28
JOURNAL ARTICLE
Victoria I Lioudyno, Evgenia A Tsymbalova, Ekaterina A Chernyavskaya, Elena Y Scripchenko, Gennadij N Bisaga, Alexander V Dmitriev, Irina N Abdurasulova
The contents of homocysteine (HCy), cyanocobalamin (vitamin B12), folic acid (vitamin B9), and pyridoxine (vitamin B6) were analyzed and the genotypes of the main gene polymorphisms associated with folate metabolism (C677T and A1298C of the MTHFR gene, A2756G of the MTR gene and A66G of the MTRR gene) were determined in children at the onset of multiple sclerosis (MS) (with disease duration of no more than six months), healthy children under 18 years (control group), healthy adults without neurological pathology, adult patients with MS at the onset of disease, and adult patients with long-term MS...
March 2024: Biochemistry. Biokhimii︠a︡
https://read.qxmd.com/read/38646424/drug-drug-interaction-between-tacrolimus-and-caspofungin-in-chinese-kidney-transplant-patients-with-different-cyp3a5-genotypes
#29
JOURNAL ARTICLE
Yundi Zhang, Bowen Shen, Yue Li, Huiying Zong, Xiaoming Zhang, Xiaohong Cao, Fengxi Liu, Yan Li
BACKGROUND: The effect of drug-drug interaction between tacrolimus and caspofungin on the pharmacokinetics of tacrolimus in different CYP3A5 genotypes has not been reported in previous studies. OBJECTIVES: To investigate the effect of caspofungin on the blood concentration and dose of tacrolimus under different CYP3A5 genotypes. DESIGN: We conducted a retrospective cohort study in The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital from January 2015 to December 2022...
2024: Therapeutic Advances in Drug Safety
https://read.qxmd.com/read/38644556/epigenetic-dissection-of-human-blood-group-genes-reveals-regulatory-elements-and-detailed-characteristics-of-kel-and-four-other-loci
#30
JOURNAL ARTICLE
Ping Chun Wu, Eunike C McGowan, Yan Quan Lee, Sudip Ghosh, Jenny Hansson, Martin L Olsson
BACKGROUND: Blood typing is essential for safe transfusions and is performed serologically or genetically. Genotyping predominantly focuses on coding regions, but non-coding variants may affect gene regulation, as demonstrated in the ABO, FY and XG systems. To uncover regulatory loci, we expanded a recently developed bioinformatics pipeline for discovery of non-coding variants by including additional epigenetic datasets. METHODS: Multiple datasets including ChIP-seq with erythroid transcription factors (TFs), histone modifications (H3K27ac, H3K4me1), and chromatin accessibility (ATAC-seq) were analyzed...
April 21, 2024: Transfusion
https://read.qxmd.com/read/38637118/the-influence-of-hla-allele-and-haplotype-on-rhe-alloimmunization-among-pregnant-females-in-the-chinese-han-population
#31
JOURNAL ARTICLE
Yujie Kong, Jie Xiao, Li Tian, Ying Xu
BACKGROUND AND OBJECTIVES: Anti-E alloantibody is the most common and important red blood cell (RBC) alloantibody during pregnancy. The study aimed to determine the correlation between RhE alloimmunization and human leukocyte antigen (HLA) allele polymorphism, as well as haplotype diversity, among pregnant individuals in the Chinese Han population. STUDY DESIGN AND METHODS: All individuals included in our study were RhE-negative pregnant women of Chinese Han ethnicity, confirmed through serological testing...
April 18, 2024: Vox Sanguinis
https://read.qxmd.com/read/38634215/association-of-a-genetic-variant-in-angiopoietin-like-3-with-serum-hdl-c-and-risk-of-cardiovascular-disease-a-study-of-the-mashad-cohort-over-6%C3%A2-years
#32
JOURNAL ARTICLE
Malihe Aghasizadeh, Asieh Ahmadi Hoseini, Reza Sahebi, Tooba Kazemi, Parisa Asadiyan-Sohan, Habibollah Esmaily, Sara Samadi, Amir Avan, Gordon A Ferns, Saeede Khosravi, Hamideh Ghazizadeh, Ebrahim Miri-Moghaddam, Majid Ghayour-Mobarhan
BACKGROUND: Loss-of-function (LOF) variants of the angiopoietin-like 3 (ANGPTL3) gene are reported to be associated with serum triglyceride (TG) and high-density lipoprotein cholesterol (HDL-C) concentrations and thereby affect the risk of cardiovascular disease (CVD). OBJECTIVE: In the present study, we examined the association of rs10789117 in the ANGPTL 3 gene locus and the risk of CVD in the group of people who were part of the Mashhad-Stroke and Heart-Atherosclerotic-Disorders (MASHAD) cohort...
April 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38634174/estimating-the-serological-underrecognition-of-patients-with-weak-or-partial-rhd-variants
#33
JOURNAL ARTICLE
Glenn Ramsey, Christina M Barriteau
BACKGROUND: For patients with weak or discrepant RhD RBC phenotypes, RHD genotyping is employed to determine need for RhD-negative management. However, many RHD variants are type D-negative or D-positive. Serological recognition rates (RRs) of weak and partial RHD variants are poorly characterized. STUDY DESIGN AND METHODS: Four US studies employing RHD genotyping for weak or discrepant RhD phenotypes provided data for race/ethnicity-specific serological recognition...
April 18, 2024: Transfusion
https://read.qxmd.com/read/38630840/predominance-of-multidrug-resistant-salmonella-typhi-genotype-4-3-1-with-low-level-ciprofloxacin-resistance-in-zanzibar
#34
JOURNAL ARTICLE
Annette Onken, Sabrina Moyo, Mohammed Khamis Miraji, Jon Bohlin, Msafiri Marijani, Joel Manyahi, Kibwana Omar Kibwana, Fredrik Müller, Pål A Jenum, Khamis Ali Abeid, Marianne Reimers, Nina Langeland, Kristine Mørch, Bjørn Blomberg
BACKGROUND: Typhoid fever is a common cause of febrile illness in low- and middle-income countries. While multidrug-resistant (MDR) Salmonella Typhi (S. Typhi) has spread globally, fluoroquinolone resistance has mainly affected Asia. METHODS: Consecutively, 1038 blood cultures were obtained from patients of all age groups with fever and/or suspicion of serious systemic infection admitted at Mnazi Mmoja Hospital, Zanzibar in 2015-2016. S. Typhi were analyzed with antimicrobial susceptibility testing and with short read (61 strains) and long read (9 strains) whole genome sequencing, including three S...
April 17, 2024: PLoS Neglected Tropical Diseases
https://read.qxmd.com/read/38629742/association-analysis-between-cd14-gene-polymorphisms-and-peri-implantitis-susceptibility-in-a-chinese-population
#35
JOURNAL ARTICLE
Jie Li, Xiao Qiao, Jin Shang
OBJECTIVE: The goal of the study was to examine the genetic correlation of cluster of differentiation 14 (CD14) gene polymorphisms with peri-implantitis (PI) predisposition in a Chinese Han population. METHODS: In the case-control study, blood samples were collected from PI patients and healthy individuals (n = 120/group), who were admitted to the Affiliated Hospital of Yangzhou University from 2021 to 2023. One-way analysis of variance (ANOVA) was applied to compare differences of continuous variables among different groups...
April 2024: Immunity, Inflammation and Disease
https://read.qxmd.com/read/38629087/genomic-analysis-of-kel-03-and-kel-04-alleles-among-thai-blood-donors
#36
JOURNAL ARTICLE
Oytip Nathalang, Panasya Rassuree, Kamphon Intharanut, Wanlapa Chaibangyang, Núria Nogués
BACKGROUND: The Kell blood group system is clinically important in transfusion medicine, particularly in patients with antibodies specific to Kell antigens. To date, genetic variations of the Kell metallo-endopeptidase ( KEL ) gene among Thai populations remain unknown. OBJECTIVE: This study aimed to determine the frequencies of KEL*03 and KEL*04 alleles among Thai blood donors using an in-house polymerase chain reaction-sequence-specific primer (PCR-SSP) method...
2024: African Journal of Laboratory Medicine
https://read.qxmd.com/read/38626749/prevalence-and-characteristics-of-plasmodium-vivax-gametocytes-in-duffy-positive-and-duffy-negative-populations-across-ethiopia
#37
JOURNAL ARTICLE
Ebony Little, Tassew T Shenkutie, Meshesha Tsigie Negash, Beka R Abagero, Abnet Abebe, Jean Popovici, Sindew Mekasha Feleke, Eugenia Lo
Plasmodium parasites replicate asexually in human hosts. The proportion of infections that carries gametocytes is a proxy for human-to-mosquito transmissibility. It is unclear which proportion of Plasmodium vivax infections in Duffy-negative populations carries gametocytes. We determined the prevalence and characteristics of P. vivax gametocytes in Duffy-positive and -negative populations across broad regions of Ethiopia. Finger-prick blood samples were collected for microscopic and molecular screening of Plasmodium parasites and Duffy status of individuals...
April 16, 2024: American Journal of Tropical Medicine and Hygiene
https://read.qxmd.com/read/38615265/association-between-estrogen-receptor-alpha-and-aryl-hydrocarbon-receptor-gene-polymorphisms-in-the-prognosis-of-breast-cancer-in-egypt
#38
JOURNAL ARTICLE
Sara A Aboelroos, Elsayed H M Eltamany, Faten A M Mohamed, Marwa A Suliman
Breast cancer is the most malignant tumor among women in the world. Single nucleotide polymorphisms (SNPs) might better predict breast cancer prognosis. PvuII (T/C substitution), XbaI (A/G substitution), and aryl hydrocarbon (AhR) (G/A substitution) were evaluated as possible genetic prognostic factors for breast cancer. The aim of the current study was to assess the relation between PvuII (rs2234693), XbaI (rs9340799), and aryl hydrocarbon receptor gene polymorphisms AhR (rs2066853) in breast cancer prognosis...
April 2024: Egyptian Journal of Immunology
https://read.qxmd.com/read/38614890/tools-for-a-personalized-tacrolimus-dose-adjustment-in-the-follow-up-of-renal-transplant-recipients-metabolizing-phenotype-according-to-cyp3a-genetic-polymorphisms-versus-concentration-dose-ratio
#39
JOURNAL ARTICLE
Anna Vidal-Alabró, Helena Colom, Pere Fontova, Gema Cerezo, Edoardo Melilli, Nuria Montero, Ana Coloma, Anna Manonelles, Alex Favà, Josep M Cruzado, Joan Torras, Josep M Grinyó, Nuria Lloberas
BACKGROUND AND JUSTIFICATION: The strategy of the concentration-dose (C/D) approach and the different profiles of tacrolimus (Tac) according to the cytochrome P450 polymorphisms (CYPs) focus on the metabolism of Tac and are proposed as tools for the follow-up of transplant patients. The objective of this study is to analyse both strategies to confirm whether the stratification of patients according to the pharmacokinetic behaviour of C/D corresponds to the classification according to their CYP3A4/5 cluster metabolizer profile...
April 12, 2024: Nefrología
https://read.qxmd.com/read/38613191/interaction-of-blood-calcium-with-milk-yield-energy-metabolites-subclinical-mastitis-and-reproductive-performance-in-crossbred-dairy-cows
#40
JOURNAL ARTICLE
Shah Murad Khan, Rifat Ullah Khan, Shabana Naz, Abdulwahed Fahad Alrefaei, Vincenzo Tufarelli
Limited literature is available on the consequences of postpartum low blood calcium (Ca) concentration in crossbred cows. The research aimed to investigate the correlation between postpartum serum Ca levels and various parameters, including milk yield, serum energy metabolites, milk somatic cell count, and reproductive factors in crossbred cows. Following parturition, a total of 45 potential high-yielding F2 (HF × Sahiwal; Genotype: 75:25) dairy cows were enrolled . These cows were categorized based on plasma calcium concentrations into three groups: a low calcium group (Ca-L) with a calcium concentration of <5 mg/dL, a medium calcium group (Ca-M) with a calcium concentration ranging from 5 to 8...
April 2024: Reproduction in Domestic Animals
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