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  • Article
  • Open Access
392 Views
16 Pages

NRF2 Gene Polymorphisms, Preconception BMI and Their Interplay in Preeclampsia

  • Ziye Li,
  • Suyan Guo,
  • Xuan Zhou,
  • Junxiang Miao,
  • Fan Xia,
  • Lizhang Chen and
  • Tingting Wang

This study aimed to explore the correlations of nuclear factor erythroid 2-related factor-2 (NRF2) gene polymorphisms, prepregnancy body mass index (BMI) and the interaction between them with the risk of preeclampsia (PE). A case–control study...

(This article belongs to the Special Issue Common Mechanisms in Gestational Diabetes, Preeclampsia, and Coronavirus Disease 2019)
  • Review
  • Open Access
22 Citations
6,452 Views
21 Pages

Polymorphisms of Fat Mass and Obesity-Associated Gene in the Pathogenesis of Child and Adolescent Metabolic Syndrome

  • Yongyan Song,
  • Henry Wade,
  • Bingrui Zhang,
  • Wenhao Xu,
  • Rongxue Wu,
  • Shujin Li and
  • Qiaozhu Su

6 June 2023

Childhood metabolic syndrome (MetS) is prevalent around the world and is associated with a high likelihood of suffering from severe diseases such as cardiovascular disease later in adulthood. MetS is associated with genetic susceptibility that involv...

(This article belongs to the Section Nutrition and Metabolism)
  • Article
  • Open Access
5 Citations
3,101 Views
9 Pages

DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk

  • Mirosław Śnit,
  • Maciej Misiołek,
  • Wojciech Ścierski,
  • Anna Koniewska,
  • Grażyna Stryjewska-Makuch,
  • Sławomir Okła and
  • Władysław Grzeszczak

AIM, DIAPH2, PTPRD and HIC1 are the cell glycoprotein, which play an important role in the occurrence and development of tumors. This study was designed to assess the association between DIAPH2, PTPRD and HIC1 SNPs and laryngeal cancer risk. PATIENTS...

  • Article
  • Open Access
8 Citations
5,587 Views
12 Pages

Association between Osteopontin Promoter Gene Polymorphisms and Haplotypes with Risk of Diabetic Nephropathy

  • Balneek Singh Cheema,
  • Sreenivasa Iyengar,
  • Rajni Sharma,
  • Harbir Singh Kohli,
  • Anil Bhansali and
  • Madhu Khullar

10 June 2015

Background: Osteopontin (OPN) C-443T promoter polymorphism has been shown as a genetic risk factor for diabetic nephropathy (DN) in type 2 diabetic patients (T2D). Methods: In the present study we investigated the association of three functional prom...

(This article belongs to the Special Issue Diabetic Nephropathy)
  • Article
  • Open Access
18 Citations
3,452 Views
10 Pages

NLRP3 Gene Polymorphisms in Rheumatoid Arthritis and Primary Sjogren’s Syndrome Patients

  • Ruei-Nian Li,
  • Tsan-Teng Ou,
  • Chia-Hui Lin,
  • Yuan-Zhao Lin,
  • Tzu-Jung Fang,
  • Yi-Jing Chen,
  • Chia-Chun Tseng,
  • Wan-Yu Sung,
  • Cheng-Chin Wu and
  • Jeng-Hsien Yen

Aim: The activation of NLRP3 inflammasome leads to the stimulation of cytokines and is significantly involved in the pathogenesis and progression of autoimmune diseases. The purpose of this study is to examine the associations of NLRP3 gene polymorph...

(This article belongs to the Special Issue Autoimmune Rheumatic Disease: Advances in Diagnosis and Treatment)
  • Article
  • Open Access
29 Citations
5,098 Views
22 Pages

Circadian Gene Polymorphisms Associated with Breast Cancer Susceptibility

  • Monika Lesicka,
  • Ewa Jabłońska,
  • Edyta Wieczorek,
  • Beata Pepłońska,
  • Jolanta Gromadzińska,
  • Barbara Seroczyńska,
  • Leszek Kalinowski,
  • Jarosław Skokowski and
  • Edyta Reszka

14 November 2019

Breast cancer (BC) is a major problem for civilization, manifested by continuously increasing morbidity and mortality among women worldwide. Core circadian genes may play an important role in cancer development and progression. To evaluate the effect...

(This article belongs to the Special Issue Crosstalk between Circadian Rhythm and Diseases)
  • Article
  • Open Access
691 Views
13 Pages

Identification and In Silico Functional Annotation of Polymorphisms in the MYO16 Gene Region in Sheep

  • Olesya Yatsyk,
  • Alexander Krivoruchko,
  • Antonina Skokova,
  • Elena Safaryan,
  • Elena Budanova and
  • Anastasia Kanibolotskaya

MYO16 has previously been identified as a candidate gene in studies of meat productivity in sheep, but its complete sequence and the potential impact of polymorphisms on the functional properties of the gene in sheep remain understudied. The aim of t...

  • Article
  • Open Access
2 Citations
1,841 Views
16 Pages

27 November 2024

Prion diseases are fatal neurodegenerative disorders caused by the misfolding of the normal cellular prion protein (PrPC) into its infectious isoform (PrPSc). Although prion diseases in humans, sheep, goats, and cattle have been extensively studied,...

(This article belongs to the Section Veterinary Clinical Studies)
  • Article
  • Open Access
1,243 Views
18 Pages

Study of Estrogen Receptor Alpha Gene Polymorphisms (ERα, ESR1) in Women with Ovarian Cancer

  • Honorata Łukasiewicz,
  • Dariusz Samulak,
  • Hanna Romanowicz and
  • Beata Smolarz

Despite the growing knowledge about ovarian cancer, it has not yet been possible to develop an effective screening test for this cancer. Therefore, it seems necessary to identify new risk factors, such as genetic polymorphisms. The aim of this study...

(This article belongs to the Section Molecular Endocrinology and Metabolism)
  • Systematic Review
  • Open Access
2 Citations
6,468 Views
23 Pages

MTHFR Gene Polymorphisms and Cancer Risk in Children and Adolescents: A Systematic Review and Meta-Analysis

  • Savvas Kolanis,
  • Eleni P. Kotanidou,
  • Vasiliki Rengina Tsinopoulou,
  • Elisavet Georgiou,
  • Emmanuel Hatzipantelis,
  • Liana Fidani and
  • Assimina Galli-Tsinopoulou

17 January 2025

Background/Objectives: MTHFR gene polymorphisms (677C>T and 1298A>C) correlate with various types of cancer across all age groups; however, a small number of studies have included solely children and adolescents. The aim of this systematic...

(This article belongs to the Section Pediatric Hematology & Oncology)
  • Article
  • Open Access
4 Citations
3,300 Views
11 Pages

Associations of the SREBF2 Gene and INSIG2 Polymorphisms with Obesity and Dyslipidemia in Thai Psychotic Disorder Patients Treated with Risperidone

  • Natchaya Vanwong,
  • Chonlaphat Sukasem,
  • Weerapon Unaharassamee,
  • Napa Jiratjintana,
  • Chalitpon Na Nakorn,
  • Yaowaluck Hongkaew and
  • Apichaya Puangpetch

22 September 2021

Background: Patients with psychotic disorders who receive atypical antipsychotic drugs often develop metabolic abnormalities. The sterol regulatory element-binding factor 2 (SREBF2) gene and insulin-induced gene (INSIG) have important roles in lipid...

(This article belongs to the Special Issue Pharmacogenetics of Treating Anxiety & Depression)
  • Article
  • Open Access
1 Citations
908 Views
12 Pages

Thrombophilia and Folate Cycle Gene Polymorphisms in the Development of Ischemic Stroke After COVID-19

  • Dildora Khaydarova Kadirovna,
  • Nodirjon Kadirovich Khaydarov,
  • Sanobar Nizamovna Rakhmatova,
  • Nilufar Kahhorovna Salomova,
  • Visola Furkatovna Gaffarova,
  • Qunduz Abdullo Qizi Sadulloyeva,
  • Dilshod Izbilloyevich Sadullayev,
  • Mukhammadjon Kahramon Ugli Berdiyev,
  • Bakhodir Igamovich Djumayev and
  • Dilbar Tadjievna Khodjieva
  • + 3 authors

COVID-19 not only affects the respiratory system but also increases the risk of cerebrovascular complications, including ischemic stroke. Experimental and clinical data suggest that cytokine dysregulation and polymorphisms of thrombophilia-related ge...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
11 Citations
6,227 Views
10 Pages

An Assessment of GPX1 (rs1050450), DIO2 (rs225014) and SEPP1 (rs7579) Gene Polymorphisms in Women with Endometrial Cancer

  • Magdalena Janowska,
  • Natalia Potocka,
  • Sylwia Paszek,
  • Marzena Skrzypa,
  • Kamila Żulewicz,
  • Marta Kluz,
  • Sławomir Januszek,
  • Piotr Baszuk,
  • Jacek Gronwald and
  • Tomasz Kluz
  • + 2 authors

21 January 2022

Background: Numerous studies indicate a relationship between the presence of GPX1 (rs1050450), DIO2 (rs225014) and SEPP1 (rs7579) gene polymorphisms and the development of chronic or neoplastic diseases. However, there are no reports on the influence...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
16 Citations
6,967 Views
14 Pages

The Roles of MTRR and MTHFR Gene Polymorphisms in Colorectal Cancer Survival

  • Yu Wang,
  • Meizhi Du,
  • Jillian Vallis,
  • Matin Shariati,
  • Patrick S. Parfrey,
  • John R. Mclaughlin,
  • Peizhong Peter Wang and
  • Yun Zhu

1 November 2022

Background: Paradoxically epidemiological data illustrate a negative relationship between dietary folate intake and colorectal cancer (CRC) risk. The occurrence and progression of CRC may be influenced by variants in some key enzyme coding genes in t...

(This article belongs to the Special Issue New Perspectives for Cancer Patients’ Nutritional Support and Therapy)
  • Article
  • Open Access
8 Citations
3,559 Views
19 Pages

Repair genes may play critical roles in the relationships between environmental exposure and health outcomes. However, no evidence is available about the effect of repair gene polymorphisms on the relationship between bisphenol A (BPA) exposure and l...

(This article belongs to the Section Toxicology and Public Health)
  • Article
  • Open Access
16 Citations
5,889 Views
11 Pages

Association between Resistin Gene Polymorphisms and Atopic Dermatitis

  • Saleem A. Banihani,
  • Khawla F. Abu-Alia,
  • Omar F. Khabour and
  • Karem H. Alzoubi

Atopic dermatitis (AD) is a chronic, relapsing, and inflammatory skin disorder. It is characterized by an inappropriate skin barrier function, allergen sensitization, and recurrent skin infections. Resistin is an adipokine expressed mainly in macroph...

  • Review
  • Open Access
14 Citations
4,232 Views
11 Pages

(1) Background: Studies on the association between Vitamin D receptor gene polymorphism and gestational diabetes mellitus have been inconsistent. The aim of this study was to summarize available evidence on the association between polymorphisms of Vi...

  • Article
  • Open Access
6 Citations
1,856 Views
15 Pages

The Role of Cytokine Gene Polymorphisms in Rehabilitation Outcome After Traumatic Brain Injury

  • Franca Rosa Guerini,
  • Cristina Agliardi,
  • Milena Zanzottera,
  • Antonio Caronni,
  • Laura Antolini,
  • Chiara Camilla Derchi,
  • Tiziana Atzori,
  • Elisabetta Bolognesi,
  • Jorge Navarro and
  • Angela Comanducci
  • + 1 author

10 July 2025

Traumatic brain injury (TBI) affects millions of people worldwide and often results in long-term disabilities. Clinical outcomes vary widely even among patients with similar injury severity, partly due to systemic neuroinflammatory responses mediated...

(This article belongs to the Special Issue Neuroinflammation in Brain Health and Diseases)
  • Article
  • Open Access
1 Citations
1,812 Views
22 Pages

27 January 2026

Background: Vitamin D receptor (VDR) gene polymorphisms are linked to muscle and bone physiology, yet their influence on individual differences in resistance training adaptations, especially between sexes, is not well understood. Methods: In total, 1...

(This article belongs to the Section Genes & Environments)
  • Article
  • Open Access
7 Citations
2,886 Views
10 Pages

Association of the DNA Methyltransferase and Folate Cycle Enzymes’ Gene Polymorphisms with Coronary Restenosis

  • Kalima B. Timizheva,
  • Abdulbary A. M. Ahmed,
  • Amira Ait Aissa,
  • Anna V. Aghajanyan,
  • Leyla V. Tskhovrebova and
  • Madina M. Azova

7 February 2022

Background: In recent years, the interest in genetic predisposition studies for coronary artery disease and restenosis has increased. Studies show that polymorphisms of genes encoding folate cycle and homocysteine metabolism enzymes significantly con...

(This article belongs to the Special Issue State-of-the-Art in Biomedicine in Russia Federation)
  • Article
  • Open Access
2 Citations
3,710 Views
12 Pages

Association Between Hypertension, Dipping Status, and ACE and AGTR1 Gene Polymorphisms in Adolescents with Type 1 Diabetes

  • Smiljka Kovacevic,
  • Maja Jesic,
  • Vera Zdravkovic,
  • Stefan Djordjevic,
  • Jelena Miolski,
  • Vladimir Gasic,
  • Marina Jelovac,
  • Milena Ugrin,
  • Sonja Pavlovic and
  • Branko Subosic

Objectives: This study aims to show the distribution of angiotensin-converting enzyme (ACE) rs1799752 (I>D) gene insertion/deletion (I/D) polymorphism and angiotensin II receptor type 1 (AGTR1) rs5186 (A>C) gene polymorphism in adolescents with...

(This article belongs to the Special Issue Diabetes: Comorbidities, Therapeutics and Insights (2nd Edition))
  • Article
  • Open Access
21 Citations
5,685 Views
18 Pages

Vitamin D Receptor Gene Polymorphisms Affect Osteoporosis-Related Traits and Response to Antiresorptive Therapy

  • Vladimira Mondockova,
  • Veronika Kovacova,
  • Nina Zemanova,
  • Martina Babikova,
  • Monika Martiniakova,
  • Drahomir Galbavy and
  • Radoslav Omelka

11 January 2023

The present study analyzed the effect of vitamin D receptor (VDR) gene polymorphisms (ApaI, TaqI, BsmI, FokI, and Cdx2) on bone mineral density (BMD), biochemical parameters and bone turnover markers, fracture prevalence, and response to three types...

(This article belongs to the Special Issue Genetics of Complex Human Disease)
  • Article
  • Open Access
4 Citations
1,977 Views
12 Pages

8 February 2025

(1) Objective: To evaluate the relationship between fluoride exposure, interactions of BMP2/BMP4 gene polymorphisms, and fluoride exposure on essential hypertension. (2) Methods: A cross-sectional study was conducted among 725 participants in a high-...

(This article belongs to the Special Issue Molecular Mechanisms of Disease Caused from Environmental Fluoride and Arsenic Exposures)
  • Article
  • Open Access
816 Views
14 Pages

Maternal RFC1 Gene Polymorphisms and Neural Tube Defects: A Case–Control Study in Ethiopia

  • Hasset Tamirat Molla,
  • Dawd Gashu,
  • Barbara Stoecker and
  • Winyoo Chowanadisai

17 April 2026

Background: Etiologies of neural tube defects (NTDs) are multifactorial. Genetic, epigenetic and environmental factors may contribute to their reported variation in prevalence across the globe. Ethiopia has among the highest reported NTD prevalence g...

(This article belongs to the Special Issue Genetic Insights into Pediatric Neurological Disorders: From Mechanisms to Therapies)
  • Review
  • Open Access
2 Citations
1,663 Views
21 Pages

Angiotensin-Converting Enzyme Gene Polymorphisms and Diabetic Neuropathy: Insights from a Scoping Review and Scientometric Analysis

  • Rafaela Cirillo de Melo,
  • Paula Rothbarth Silva,
  • Nathalia Marçallo Peixoto Souza,
  • Mateus Santana Lopes,
  • Wellington Martins de Carvalho Ragassi,
  • Luana Mota Ferreira,
  • Fabiane Gomes de Moraes Rego and
  • Marcel Henrique Marcondes Sari

1 September 2025

Background/Objectives: Diabetic neuropathy (DN) is one of the most common and disabling complications of diabetes mellitus (DM), affecting motor, sensory, and autonomic nerves. Genetic factors, particularly polymorphisms in the Angiotensin-converting...

(This article belongs to the Special Issue From Monitoring to Management: Addressing Challenges in Type 1 and Type 2 Diabetes Care)
  • Article
  • Open Access
2 Citations
3,285 Views
13 Pages

The Association of XRCC1 Gene Polymorphisms and Chronic Hepatitis C Induced Insulin Resistance in Egyptian Patients

  • Salwa M. Abo El-khair,
  • Mona Arafa,
  • Tarek Besheer,
  • Ahmed M. El-Eraky and
  • Ayman Z. Elsamanoudy

25 October 2018

Chronic hepatitis C is implicated in insulin resistance (IR) susceptibility. An X-ray repair cross-complementing group 1 gene (XRCC1) is proposed to be a candidate gene for a study of IR susceptibility. So, this study aims to investigate the possible...

  • Article
  • Open Access
17 Citations
5,944 Views
11 Pages

Polymorphisms of Leptin-b Gene Associated with Growth Traits in Orange-Spotted Grouper (Epinephelus coioides)

  • Hai Huang,
  • Yun Wei,
  • Zining Meng,
  • Yong Zhang,
  • Xiaochun Liu,
  • Liang Guo,
  • Jian Luo,
  • Guohua Chen and
  • Haoran Lin

7 July 2014

In mammals, leptin has been demonstrated to perform important roles in many physiological activities and to influence development, growth, metabolism and reproduction. However, in fish, its function is still unclear. Duplicate leptin genes, leptin-a...

(This article belongs to the Section Biochemistry)
  • Article
  • Open Access
16 Citations
3,924 Views
12 Pages

IL-17F Gene rs763780 and IL-17A rs2275913 Polymorphisms in Patients with Periodontitis

  • Małgorzata Mazurek-Mochol,
  • Małgorzata Kozak,
  • Damian Malinowski,
  • Krzysztof Safranow and
  • Andrzej Pawlik

Background: Periodontitis (PD) is a chronic inflammatory disease that can eventually lead to tooth loss. Genetic and environmental factors such as smoking are involved in the pathogenesis of PD. The development of PD is potentiated by various pathoge...

(This article belongs to the Section Global Health)
  • Article
  • Open Access
13 Citations
4,928 Views
11 Pages

Association between Interleukin 35 Gene Single Nucleotide Polymorphisms and Systemic Lupus Erythematosus in a Chinese Han Population

  • Shi-Yang Guan,
  • Li-Na Liu,
  • Yan-Mei Mao,
  • Chan-Na Zhao,
  • Qian Wu,
  • Yi-Lin Dan,
  • Napoleon Bellua Sam and
  • Hai-Feng Pan

22 April 2019

Interleukin-35 (IL-35) exerts crucial roles in the pathogenesis and development of systemic lupus erythematosus (SLE), in this study we aim to explore the associations between IL-35 gene polymorphisms and the susceptibility, clinical features and pla...

(This article belongs to the Special Issue Molecular Basis of Autoimmunity Diseases)
  • Article
  • Open Access
463 Views
17 Pages

The Association Between Matrix Metalloproteinase-1, -2, -3, -9, and -12 Gene Polymorphisms and Atrial Fibrillation

  • Robert Błaszczyk,
  • Sebastian Sawonik,
  • Izabela Korona-Głowniak,
  • Anna Wysocka,
  • Monika Czuba,
  • Małgorzata Świstowska,
  • Olgierd Król,
  • Janusz Kocki,
  • Andrzej Wysokiński and
  • Andrzej Głowniak

Atrial fibrillation (AF) is a prevalent cardiac arrhythmia associated with significant morbidity and mortality. Structural remodeling of the left atrium, particularly myocardial fibrosis, plays a key role in AF pathogenesis. Matrix metalloproteinases...

(This article belongs to the Section Molecular Biology)
  • Article
  • Open Access
20 Citations
4,153 Views
16 Pages

24 December 2020

Prion diseases are fatal neurodegenerative disorders characterized by vacuolation and gliosis in the brain. Prion diseases have been reported in several mammals, and genetic polymorphisms of the prion protein gene (PRNP) play an essential role in the...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
5 Citations
2,839 Views
9 Pages

Association between ADCY9 Gene Polymorphisms and Ritodrine Treatment Outcomes in Patients with Preterm Labor

  • Nari Lee,
  • Ha-Young Yoon,
  • Jin-Young Park,
  • Young-Ju Kim,
  • Han-Sung Hwang,
  • Jeong Yee and
  • Hye-Sun Gwak

The purpose of this study was to investigate the genetic effects of ADCY9 on ritodrine responses in patients with preterm labor. Five single nucleotide polymorphisms (SNPs) of the ADYC9 gene in 163 patients in preterm labor were genotyped: rs879619,...

(This article belongs to the Special Issue Association Studies in Clinical Pharmacogenetics)
  • Article
  • Open Access
3 Citations
2,514 Views
6 Pages

Predisposition to Myocardial Infarction Influenced by Interleukin 13 Gene Polymorphisms: A Case-Control Study

  • Seyyed Fatemeh Hosseini,
  • Khalil Khashei Varnamkhasti,
  • Raziyeh Naeimi,
  • Leila Naeimi and
  • Sirous Naeimi

19 August 2022

Background: Additional inflammatory responses and subsequent damage—arising from enhance transcriptional activity or forming the more active protein due to existence of polymorphic sites in the pro-inflammatory cytokines gene loci—give ri...

(This article belongs to the Special Issue Genetics and Mechanistic Basis of Cardiomyopathies)
  • Article
  • Open Access
7 Citations
3,693 Views
18 Pages

Association of Oxidative-Stress-Related Gene Polymorphisms with Pain-Related Temporomandibular Disorders and Oral Behavioural Habits

  • Ema Vrbanović,
  • Marko Zlendić,
  • Koraljka Gall Trošelj,
  • Marko Tomljanović,
  • Kristina Vuković Đerfi and
  • Iva Z. Alajbeg

The frequency of selected polymorphisms, one in each gene coding for proteins with antioxidative properties (CAT(rs1001179), SOD2(rs4880), GPX1(rs1050450), and NQO1(rs689452)), was compared between patients suffering from pain-related temporomandibul...

(This article belongs to the Section Health Outcomes of Antioxidants and Oxidative Stress)
  • Article
  • Open Access
20 Citations
5,730 Views
22 Pages

Relationship between Vitamin D3 Deficiency, Metabolic Syndrome and VDR, GC, and CYP2R1 Gene Polymorphisms

  • Carmina Mariana Stroia,
  • Timea Claudia Ghitea,
  • Maria Vrânceanu,
  • Mariana Mureșan,
  • Erika Bimbo-Szuhai,
  • Csaba Robert Pallag and
  • Annamaria Pallag

25 April 2024

The presence of vitamin D3 deficiency associated with the presence of metabolic syndrome (MS) has important public health effects. This study aims to investigate the relationship between vitamin D3 deficiency, MS and vitamin D3 receptor (VDR), GC Vit...

(This article belongs to the Section Nutrigenetics and Nutrigenomics)
  • Article
  • Open Access
2 Citations
3,768 Views
19 Pages

The Role of DNA Repair (XPC, XPD, XPF, and XPG) Gene Polymorphisms in the Development of Myeloproliferative Neoplasms

  • Adriana-Stela Crișan,
  • Florin Tripon,
  • Alina Bogliș,
  • George-Andrei Crauciuc,
  • Adrian P. Trifa,
  • Erzsébet Lázár,
  • Ioan Macarie,
  • Manuela Rozalia Gabor and
  • Claudia Bănescu

19 March 2024

Background and Objectives: Several polymorphisms have been described in various DNA repair genes. Nucleotide excision DNA repair (NER) detects defects of DNA molecules and corrects them to restore genome integrity. We hypothesized that the XPC, XPD,...

(This article belongs to the Special Issue Advances in Cancer Therapy from Research to Clinical Practice—Surgical, Molecular or Systemic Management of Cancer: 2nd Edition)
  • Article
  • Open Access
2 Citations
1,397 Views
13 Pages

Non-traumatic osteonecrosis of the femoral head (ONFH) is a multifactorial disorder in which genetic susceptibility is thought to play an important role, yet the contribution of many candidate genes remains unclear. The catenin beta-1 (CTNNB1) gene e...

(This article belongs to the Section Bioinformatics and Systems Biology)
  • Article
  • Open Access
12 Citations
3,817 Views
15 Pages

20 November 2019

PITX2 is expressed in and plays an important role in myocytes of mice, and it has effects on late myogenic differentiation in chickens. However, the expression profile and polymorphisms of PITX2 remain unclear in chickens. Therefore, the aim of the p...

(This article belongs to the Section Poultry)
  • Article
  • Open Access
12 Citations
4,122 Views
10 Pages

Association of SOD2 (rs4880) and GPX1 (rs1050450) Gene Polymorphisms with Risk of Balkan Endemic Nephropathy and its Related Tumors

  • Biljana Dragicevic,
  • Sonja Suvakov,
  • Djurdja Jerotic,
  • Zorica Reljic,
  • Ljubica Djukanovic,
  • Ivanka Zelen,
  • Marija Pljesa-Ercegovac,
  • Ana Savic-Radojevic,
  • Tatjana Simic and
  • Marija Matic
  • + 1 author

3 August 2019

Background and Objectives: Experimental data show that superoxide dismutase 2 (SOD2) is involved in ochratoxin (OTA)-induced nephrotoxicity, whereas clinical data indicate the role of SOD2 rs4880 or glutathione peroxidase 1 (GPX1) rs1050450 polymorph...

  • Article
  • Open Access
394 Views
11 Pages

The Relationship Between Coronary Artery Ectasia and PAI-1 4G/5G Gene Polymorphisms

  • Muhammet Ergül,
  • Yüksel Çiçek,
  • Ali Gökhan Özyıldız,
  • Faruk Saydam and
  • Elif Ergül

Background: Coronary artery ectasia (CAE) is characterized by either diffuse or segmental enlargement of the coronary artery, with a diameter that exceeds 1.5 times that of the adjacent normal vessel. The underlying causes of CAE remain inadequately...

  • Article
  • Open Access
1 Citations
1,511 Views
13 Pages

Association of Vitamin D Receptor (VDR) Gene Polymorphisms with Osteoporotic Vertebral Fracture Risk: A Case–Control Study

  • Nimetullah Alper Durmuş,
  • Merdan Orunoglu,
  • Sukru Oral,
  • Rahmi Kemal Koç,
  • Munis Dundar and
  • Mehmet Meral

31 March 2026

Background/Objectives: Osteoporosis is a systemic skeletal disorder characterized by reduced bone mass and microarchitectural deterioration, resulting in an increased risk of fragility fractures, particularly vertebral fractures. Genetic factors are...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
17 Citations
6,674 Views
14 Pages

7 January 2014

Primers based on the cDNA sequence of the goose growth hormone (GH) gene in GenBank were designed to amplify exon 2 of the GH gene in Huoyan goose. A total of 552 individuals were brooded in one batch and raised in Liaoning and Jiangsu Provinces, Chi...

(This article belongs to the Section Biochemistry)
  • Article
  • Open Access
1 Citations
1,569 Views
15 Pages

Association of Vitamin D Receptor (VDR) Gene Polymorphisms with COVID-19 Susceptibility in the Kurdistan Region

  • Raya Kh. Yashooa,
  • Dara K. Mohammad,
  • Shawnim M. Maaruf,
  • Treska S. Hassan,
  • Azhin D. Aziz,
  • Wissam Albeer Nooh,
  • Ghoorbat A. Mustafa,
  • Sevan O. Majed,
  • Gaylany H. Abdullah and
  • Suhad A. Mustafa
  • + 1 author

12 April 2026

Coronavirus disease-2019 COVID-19 exhibits marked inter-individual variability in susceptibility and clinical outcomes, suggesting a role for host genetic factors. Vitamin D exerts immunomodulatory effects through the vitamin D receptor (VDR), and ge...

(This article belongs to the Section Host Genetics and Susceptibility/Resistance)
  • Review
  • Open Access
62 Citations
11,978 Views
37 Pages

Human Cytochrome P450 Cancer-Related Metabolic Activities and Gene Polymorphisms: A Review

  • Innokenty M. Mokhosoev,
  • Dmitry V. Astakhov,
  • Alexander A. Terentiev and
  • Nurbubu T. Moldogazieva

26 November 2024

Background: Cytochromes P450 (CYPs) are heme-containing oxidoreductase enzymes with mono-oxygenase activity. Human CYPs catalyze the oxidation of a great variety of chemicals, including xenobiotics, steroid hormones, vitamins, bile acids, procarcinog...

(This article belongs to the Special Issue Molecular Mechanisms of Tumor Pathogenesis)
  • Article
  • Open Access
7 Citations
2,719 Views
22 Pages

Polymorphisms of the GCLC Gene Are Novel Genetic Markers for Susceptibility to Psoriasis Associated with Alcohol Abuse and Cigarette Smoking

  • Ekaterina Efanova,
  • Olga Bushueva,
  • Roman Saranyuk,
  • Anna Surovtseva,
  • Mikhail Churnosov,
  • Maria Solodilova and
  • Alexey Polonikov

2 June 2023

The aim of this pilot study was to investigate whether single nucleotide polymorphisms (SNP) in the gene encoding the catalytic subunit of glutamate cysteine ligase (GCLC) are associated with the risk and clinical features of psoriasis. A total of 94...

(This article belongs to the Special Issue Genetic Basis of Human Diseases)
  • Article
  • Open Access
5 Citations
3,743 Views
16 Pages

SLC6A3, HTR2C and HTR6 Gene Polymorphisms and the Risk of Haloperidol-Induced Parkinsonism

  • Gordana Nedic Erjavec,
  • Mirko Grubor,
  • Maja Zivkovic,
  • Nada Bozina,
  • Marina Sagud,
  • Matea Nikolac Perkovic,
  • Alma Mihaljevic-Peles,
  • Nela Pivac and
  • Dubravka Svob Strac

13 December 2022

Antipsychotic-induced parkinsonism (AIP) is the most common type of extrapyramidal side effect (EPS), caused by the blockage of dopamine receptors. Since dopamine availability might influence the AIP risk, the dopamine transporter (DAT) and serotonin...

(This article belongs to the Special Issue Antipsychotics: 70 Years)
  • Article
  • Open Access
26 Citations
4,265 Views
11 Pages

Paraoxonase-1 Serum Concentration and PON1 Gene Polymorphisms: Relationship with Non-Alcoholic Fatty Liver Disease

  • Mircea Vasile Milaciu,
  • Ștefan Cristian Vesa,
  • Ioana Corina Bocșan,
  • Lorena Ciumărnean,
  • Dorel Sâmpelean,
  • Vasile Negrean,
  • Raluca Maria Pop,
  • Daniela Maria Matei,
  • Sergiu Pașca and
  • Monica Acalovschi
  • + 2 authors

13 December 2019

Background: Non-alcoholic fatty liver disease (NAFLD) is an important cause of chronic liver diseases around the world. Paraoxonase-1 (PON1) is an enzyme produced by the liver with an important antioxidant role. The aim of this study was to evaluate...

(This article belongs to the Special Issue Gastrointestinal Disorders: Diagnosis, Treatments and Clinical Features)
  • Review
  • Open Access
1 Citations
1,511 Views
25 Pages

Bronchial asthma is a common chronic respiratory disease with a complex etiology, wherein the interaction between genetic and environmental factors plays a critical role in its pathogenesis. The β-2 adrenergic receptor gene (ADRB2) is pivotal in...

(This article belongs to the Special Issue Molecular Mechanisms and Biomarkers in Asthma: From MicroRNA to Immune Modulation)
  • Article
  • Open Access
18 Citations
5,908 Views
16 Pages

Association between Vitamin D Receptor Gene Polymorphisms and Periodontal Bacteria: A Clinical Pilot Study

  • Concetta Cafiero,
  • Cristina Grippaudo,
  • Marco Dell’Aquila,
  • Pasquale Cimmino,
  • Antonio D’Addona,
  • Paolo De Angelis,
  • Maria Pia Ottaiano,
  • Domenico Costagliola,
  • Giulio Benincasa and
  • Raffaele Palmirotta
  • + 2 authors

15 June 2022

Background: Periodontitis is an inflammatory disease caused by microorganisms involving the supporting tissues of the teeth. Gene variants may influence both the composition of the biofilm in the oral cavity and the host response. The objective of th...

(This article belongs to the Section Bio-Engineered Materials)
  • Review
  • Open Access
8 Citations
5,579 Views
17 Pages

Pulmonary Hypertension in Sickle Cell Disease: Novel Findings of Gene Polymorphisms Related to Pathophysiology

  • Sevastianos Chatzidavid,
  • Pagona Flevari,
  • Ioanna Tombrou,
  • Georgios Anastasiadis and
  • Maria Dimopoulou

Pulmonary hypertension (PH) is a progressive and potentially fatal complication of sickle cell disease (SCD), affecting 6–10% of adult SCD patients. Various mechanisms and theories have been evaluated to explain the pathophysiology of this dise...

(This article belongs to the Special Issue Genetic Modifiers of Hemoglobinopathies: Recent Advances and Future Directions)

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