Open Access Pub publishes peer-reviewed, free-to-read open-access articles. Showing
articles matching Polymorphism — open any to read the full text,
or download the PDF or XML.
Feb 2025 DOI 10.14302/issn.2326-0793.jpgr-25-5405
Ming-Fen HoCorresponding author
Alcohol use disorder (AUD) is the most prevalent substance use disorder. Excessive alcohol consumption leads to a range of health issues. We set out to identify inflammatory markers linked to alcohol consumption, which might ultimately offer novel insight into genetic underpinnings and have implicat…
May 2020 DOI 10.14302/issn.2575-7881.jdrr-20-3343
Amged Hussen AbdelrhmanCorresponding author
Background Anemia of chronic disease is anemia found in certain chronic disease states, is typically marked by the disturbance of iron homeostasis or hypoferremia. Chronic renal failure is currently known as Chronic Kidney Disease (CKD) or Chronic Renal Insufficiency (CRI) implies long-standing, pro…
Mar 2020 DOI 10.14302/issn.2374-9431.jbd-20-3195
E.G SergeevaCorresponding author
FIRST St. Petersburg state medical University named after academician I. P. Pavlov
Purpose The goals of the present study were to assess the genotypic and allelic distribution of Bsm-I (rs1544410) and Apa-I (rs7975232) polymorphisms of the vitamin D receptor (VDR) gene in coronary artery disease (CAD) patients in comparison to control patients of the same age without CAD and to de…
Dec 2019 DOI 10.14302/issn.2326-0793.jpgr-19-3114
Benjamin OllomoCorresponding author
Background During the last two decades, the polymorphism of Angiotensin-Converting Enzyme (ACE) gene has been extensively studied among different human populations. In humans, several studies have shown the relationship between this polymorphism and the risk of many serious diseases with a heavy bur…
Jun 2019 DOI 10.14302/issn.2374-9431.jbd-19-2788
E.G. SergeevaCorresponding author
Purpose The goal of this study is to determine the association of L162V polymorphism of PPAR-alpha gene, A603G polymorphism of tissue factor gene and the risk of coronary heart disease development in Russian population. Materials and Methods A clinical and genetic study of 414 patients with CHD an…
Sep 2018
Kleber Santiago Freitas e SilvaCorresponding author
Epilepsy comprises a series of chronic neurological disorders characterized by recurrent seizures. Over 50 million people are affected by epilepsy worldwide. In addition, genetic components capable of predicting epilepsy predisposition and antiepileptic drugs response would lead to the development o…
Jun 2017 DOI 10.14302/issn.2576-9359.jot-17-1603
Carlotta CapraraCorresponding author
Single-nucleotide polymorphisms (SNPs) in genes involved in immune responses and in the pharmacokinetics/pharmacodynamics of immunosuppressive drugs influence transplant outcomes of patients receiving the same immunosuppressive therapy. The aim of our preliminary study was to determine the SNPs prof…
Jan 2017 DOI 10.14302/issn.2575-7881.jdrr-16-1375
László GóthCorresponding author
We checked our simple screening technique for detection of the known polymorphism of rs769217, and the two acatalasemic mutations in exon 9 of the catalase gene. This fast and inexpensive method yielded better resolution than those of the standard SSCP. We suppose that the method detects the spontan…
Jun 2016
Arup Ratan BandyopadhyayCorresponding author
Earlier studies reported significant association of obesity, hypertension and Type2 Diabetes Mellitus (T2DM). Genetic and many disease-associated alleles have been identified through GWAS and applied to T2DM and indicated roles of renin-angiotensin system (RAS) in insulin signaling pathway and insul…
May 2013 DOI 10.14302/issn.2324-7339.jcrhap-12-140
Leona DoldCorresponding author
Analyzing SNPs linked to fatty liver disease, this study finds no association with HAART‑related hepatic steatosis in HIV patients. The work underscores the multifactorial nature of antiretroviral toxicity and points to metabolic and pharmacologic contributors beyond common variants.
May 2025 DOI 10.14302/issn.2379-8572.joa-25-5504
Mohamed HachemiCorresponding author
Introduction Angiosarcoma is a rare malignant tumour from fast-evolving and aggressive vascular endothelial cells that accounts for 1% of all sarcomas. The sinus location of angiosarcoma is exceptional. The clinical polymorphism of this tumour may cause a delay in diagnosis. Risk factors are not alw…
Apr 2020 DOI 10.14302/issn.2574-4518.jsdr-20-3161
Karim SedkyCorresponding author
Delayed sleep phase syndrome (DSPS) is a circadian rhythm disorder where individuals experience difficulty modifying the time they go to sleep and wake up in response to environmental changes. The circadian rhythm itself is regulated by a variety of clock genes, and various other genes (e.g., AA-NAT…
Apr 2019 DOI 10.14302/issn.2329-9487.jhc-19-2719
Salem BouomraniCorresponding author
Introduction The cardiac localization of hydatid cyst (HC) is rare and little known. It is exceptionally primary and isolated. Myocardial ischemia remains an exceptional and unusual manifestation of this localization. We report the original observation of cardiac HC revealed by acute myocardial isch…
Aug 2017 DOI 10.14302/issn.2470-0436.jos-17-1721
Damien C. RodgerCorresponding author
A 57-year-old Hispanic female presented with 3 days of blurry vision in the left eye. Eight years prior, she had a branch retinal artery occlusion in the right eye and a hematologic work-up revealed a 4G/4G polymorphism in plasminogen activator inhibitor-1. With the current episode, she was found to…
Feb 2016 DOI 10.14302/issn.2374-9431.jbd-15-890
Norman E. BurokerCorresponding author
Purpose Signal Transducer and Activator of Transcription 4 (STAT4) is important for signaling by interleukins (IL-12 and IL-23) and type 1 interferons and has been found to have several simple nucleotide polymorphisms (SNPs) associated with human disease. STAT4 SNPs were computationally examined wit…
Feb 2016 DOI 10.14302/issn.2326-0793.jpgr-15-889
Norman E. BurokerCorresponding author
Purpose The endothetal Per-Arnt-Sim (PAS) domain protein 1 (EPAS1) gene which encodes hypoxia-inducible-factor-2 alpha (HIF2a) is a transcription factor that is involved in the response to hypoxia. EPAS1 has been found to have four (rs56721780, rs6756667, rs7589621, rs1868092) simple nucleotide poly…