Article
Biochemistry & Molecular Biology
Peter Piko, Tibor Jenei, Zsigmond Kosa, Janos Sandor, Nora Kovacs, Ildiko Seres, Gyorgy Paragh, Roza Adany
Summary: This study investigated the effect of five single-nucleotide polymorphisms (SNPs) and their haplotypes in the CETP gene on 10-year cardiovascular risk (CVR) estimated by different algorithms. The results showed that one SNP (rs7499892) and three haplotypes (H5, H7, and H8) were significantly associated with increased CVR. The impact of H5 was mediated by its effect on triglyceride (TG) and high-density lipoprotein cholesterol (HDL-C) levels, while H7 and H8 were associated with CVR through mechanisms not involving TG or HDL-C levels. This suggests that CETP gene polymorphisms can affect CVR through various mechanisms, not just by influencing lipid levels.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Shoma Hayat, Asaduzzaman Asad, Moriam Akter Munni, Md. Abu Jaher Nayeem, Md. Golam Mostafa, Israt Jahan, Md. Zakir Hossain Howlader, Quazi Deen Mohammad, Zhahirul Islam
Summary: This study investigated the relationship between IL-10 promoter polymorphisms and GBS, and found that the -819 TT genotype is associated with susceptibility to axonal GBS. In addition, high IL-10 expression haplotype combinations may be linked to disease severity.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Multidisciplinary Sciences
Hubert Wolski, Grazyna Kurzawinska, Marcin Ozarowski, Aleksandra E. Mrozikiewicz, Krzysztof Drews, Tomasz M. Karpinski, Anna Bogacz, Agnieszka Seremak-Mrozikiewicz
Summary: It was found that VDR BsmI genetic polymorphism may play a role in the etiology of recurrent miscarriages (RM), while specific maternal haplotypes were shown to prevent RM occurrence.
SCIENTIFIC REPORTS
(2021)
Article
Genetics & Heredity
Xue Li, Ning Ding, Zhichao Zhang, Dehong Tian, Buying Han, Dehui Liu, Sijia Liu, Fei Tian, Dejun Fu, Xiaoliang Song, Kai Zhao
Summary: This study identified SSTR5 polymorphisms in Hulun Buir sheep and evaluated their association with growth traits. SNP1, SNP3, SNP4, and SNP7 may serve as molecular markers for the growth traits of Hulun Buir sheep.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Milka Grk, Rada Miskovic, Ivica Jeremic, Milica Basaric, Marija Dusanovic Pjevic, Biljana Jekic, Danijela Miljanovic, Ivana Lazarevic, Aleksa Despotovic, Andja Cirkovic, Ana Banko
Summary: This study analyzed the associations of IL10RA, IL10RB, and IL22RA polymorphisms/haplotypes with SLE susceptibility and clinical manifestations. The results showed that IL10RA, IL10RB, and IL22RA polymorphisms/haplotypes could be associated with SLE susceptibility and various clinical manifestations, and the IL22RA CC haplotype could be associated with Hashimoto thyroiditis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Thais Ramos Villela, Cristina Botelho Barra, Andre Rolim Belisario, Marcelo Rizzatti Luizon, Ana Cristina Simoes e Silva, Ivani Novato Silva
Summary: This study evaluated the association of six common NR3C1 SNPs with 21-OHD patients, revealing differences in gene expression between 21-OHD patients and controls, which may have important implications for individualized treatment of 21-OHD patients.
MOLECULAR AND CELLULAR ENDOCRINOLOGY
(2021)
Article
Obstetrics & Gynecology
Aminah M. Al-Awadi, Aisha Babi, Ramzi R. Finan, Kuralay Atageldiyeva, Moldir Shaimardanova, Fekria E. Mustafa, Naeema A. Mahmood, Gulzhanat Aimagambetova, Wassim Y. Almawi
Summary: This study identified an association between ADIPOQ variants rs182052, rs822393, rs7649121, and rs6773957 with altered risk of PCOS. The varied association of ADIPOQ variants with PCOS compared to earlier reports suggests an ethnic contribution to the association between ADIPOQ and PCOS.
REPRODUCTIVE BIOMEDICINE ONLINE
(2022)
Article
Obstetrics & Gynecology
Tamara Sljivancanin Jakovljevic, Olivera Kontic-Vucinic, Nadja Nikolic, Jelena Carkic, Jelena Stamenkovic, Ivan Soldatovic, Jelena Milasin
Summary: -786 T/C and VNTR 4b/a eNOS gene polymorphisms are associated with the risk of preeclampsia in Serbian patients. Homozygotes for VNTR polymorphism have a higher risk of developing preeclampsia.
REPRODUCTIVE SCIENCES
(2021)
Article
Medical Laboratory Technology
Ion Maruntelu, Bogdan Mihai Cristea, Secil Omer, Carmen Monica Preda, Ileana Constantinescu
Summary: This study investigated the genomic HLA polymorphisms in Romanian patients with CRI awaiting kidney transplantation and found certain HLA allele groups to be significantly more frequent in these patients. The results suggest that HLA gene polymorphisms could be clinically relevant CRI-associated genetic profiles in Romanian patients with CRI.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Infectious Diseases
Sylvatrie-Danne Dinzouna-Boutamba, Berthe Amelie Iroungou, Falone Larissa Akombi, Lauriane Yacka-Mouele, Zin Moon, Ja Moon Aung, Sanghyun Lee, Dong-Il Chung, Yeonchul Hong, Youn-Kyoung Goo
Summary: This study evaluated the frequency of polymorphisms and genetic diversity associated with drug resistance among malaria parasite isolates in Gabon. High frequencies of polymorphisms in Pfdhfr and Pfdhps genes were observed, but no mutations associated with ACT resistance were found in Pfk13 gene. Regular monitoring of ACT drug efficacy is recommended in Libreville, Gabon.
Article
Public, Environmental & Occupational Health
Carmen Muntean, Maria Oana Sasaran, Adriana Crisan, Claudia Banescu
Summary: Pediatric obesity is influenced by various factors, including genetic traits. This study investigated the effects of PPARG and PPARGC1A gene polymorphisms on anthropometric and metabolic parameters in Romanian children. The results showed that obese and overweight children had significantly higher anthropometric parameters and triglyceride levels. However, the gene polymorphisms studied were not associated with childhood obesity.
FRONTIERS IN PUBLIC HEALTH
(2022)
Article
Nutrition & Dietetics
Yu-Jin Kwon, Da Hyun Park, Ja-Eun Choi, Dasom Lee, Kyung-Won Hong, Ji-Won Lee
Summary: A large-scale genome-wide association study in Korean adults found that interactions between specific genetic variants and certain nutrients may influence the risk of obesity and abdominal obesity.
CLINICAL NUTRITION
(2022)
Article
Pathology
Arpita Jha, Nidhi Nath, Anjali Kumari, Nidhi Kumari, Aditya K. Panda, Rajakishore Mishra
Summary: This study found a link between the expression and SNPs of TLR-4/9 and bacterial infection, gingival inflammation/gingival recession, and oral squamous cell carcinoma (OSCC). The expression and certain polymorphisms of TLR-4/9 were associated with the risk of OSCC. Additionally, bacterial infection and gingival inflammation/recession were also correlated with OSCC incidence.
PATHOLOGY RESEARCH AND PRACTICE
(2023)
Letter
Biotechnology & Applied Microbiology
Emel Ozcan Gokcek, Raziye Isik, Bilge Karahan, Kutsal Gamsiz
Summary: This study investigated MSTN polymorphisms in the European sea bass population reared in Turkey. Nine SNPs and two indels were identified in MSTN, and they were significantly associated with growth traits such as standard length, total weight, and fillet weight. Haplotype analysis also revealed potential associations between haplogroup 2 and all measured growth traits.
MARINE BIOTECHNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Tianyu Zhao, Tangsheng Zhong, Meishuang Zhang, Yang Xu, Ming Zhang, Li Chen
Summary: This study used bioinformatics and Mendelian randomization to explore the correlation between obesity and Alzheimer's disease (AD) and found the key targets of obesity-induced AD. The results revealed that the association between obesity and AD is mainly due to the polymorphism of the APOE gene rather than adipose tissue distribution.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Zouhair Elkarhat, Hicham Charoute, Lamiae Elkhattabi, Abdelhamid Barakat, Hassan Rouba
Summary: This study investigated the key viral enzyme nsp12 of SARS-cov-2 and its interactions with ligands using various tools. The results showed high conservation of multiple motifs in nsp12 and low binding energies between the ligands and nsp12. Molecular dynamics simulations demonstrated the stability of certain ligand-nsp12 complexes.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2022)
Article
Medical Laboratory Technology
Khaoula Rochdi, Mathieu Cerino, Nathalie Da Silva, Valerie Delague, Aymane Bouzidi, Halima Nahili, Ghizlane Zouiri, Yamna Kriouile, Svetlana Gorokhova, Marc Bartoli, Rachid Saile, Abdelhamid Barakat, Martin Krahn
Summary: This study identified novel homozygous mutations associated with neuromuscular disorders in two Moroccan families. The use of next-generation sequencing combined with Sanger sequencing allowed for a better understanding of the genetic diversity and disease mechanisms underlying these disorders. The study reported the first identified SIL1 mutation in the Moroccan population, which was found to be the main cause of Marinesco-Sjogren syndrome. Additionally, a mutation in the fatty acid 2-hydroxylase gene (FA2H) was associated with Spastic paraplegia 35. The findings contribute to the phenotypic spectrum and diagnostic orientation of patients with neuromuscular disorders.
CLINICA CHIMICA ACTA
(2022)
Review
Public, Environmental & Occupational Health
Imane El Alami, Amina Gihbid, Hicham Charoute, Wafaa Khaali, Selma Mohamed Brahim, Nezha Tawfiq, Rachida Cadi, Khalid Belghmi, Mohammed El Mzibri, Meriem Khyatti
Summary: This study aimed to evaluate the prognostic value of EBV DNA load testing in nasopharyngeal carcinoma and emphasized the importance of using it as a prognostic biomarker. The results showed a significant association between high EBV DNA levels and poor patient survival outcomes.
PAN AFRICAN MEDICAL JOURNAL
(2022)
Article
Genetics & Heredity
Al Mehdi Krami, Aymane Bouzidi, Majida Charif, Ghita Amalou, Hicham Charoute, Hassan Rouba, Rachida Roky, Guy Lenaers, Abdelhamid Barakat, Halima Nahili
Summary: Intellectual disability is a condition characterized by impaired intellectual and adaptive functioning, affecting approximately 1-3% of the population. Recent research has found that mutations in the HECW2 gene are associated with neurodevelopmental disorders such as hypotonia, seizures, and absent language. HECW2 encodes an enzyme that plays a role in brain development by regulating key factors involved in proliferation, apoptosis, and neuronal differentiation. This study identified a homozygous HECW2 mutation in a Moroccan family, inherited in an autosomal recessive pattern, contrasting with previous findings of de novo mutations in HECW2 patients.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Review
Clinical Neurology
Al Mehdi Krami, Chorouk Ratib, Hicham Charoute, Hassan Rouba, Rachida Roky, Abdelhamid Barakat, Halima Nahili
Summary: This meta-analysis examined the association between G2677T/A polymorphism in the ABCB1 gene and drug resistance in epileptic patients. The results showed a significant decrease in the risk of drug resistance associated with this polymorphism.
Article
Biochemistry & Molecular Biology
Salaheddine Redouane, Hicham Charoute, Houda Harmak, Abderrahim Malki, Abdelhamid Barakat, Hassan Rouba
Summary: In this study, the effect of missense SNPs on AURKC gene was predicted using computational approaches. Four missense SNPs, namely E91K, D166V, D221Y, and G235V, were identified as the most impactful ones and were selected for molecular dynamics simulation. These SNPs were found to have significant changes on the structural stability of AURKC-INCENP complex, indicating their potential deleterious effects.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2023)
Article
Genetics & Heredity
Khaoula Rochdi, Abdelhamid Barakat, Rachid Saile
Summary: Myopathies are genetic muscle degenerative disorders that cause muscle weakness and wasting. These diseases are prevalent in the Middle East and North Africa region, but there is currently no effective cure due to under-diagnosis.
Article
Biochemistry & Molecular Biology
Hind Bouafi, Al Mehdi Krami, Imane Morjane, Kenza Slaoui, Houda Harmak, Hicham Charoute, Rachid Saile, Abdelhamid Barakat
Summary: Obesity, as the fifth leading cause of death globally, is a prevalent epidemic disease. This study aimed to analyze the association between LEP gene polymorphisms rs7799039 and rs11761556 and obesity in Moroccan individuals, and to provide an updated meta-analysis of this genetic association. The results showed no significant association between these polymorphisms and the risk of obesity.
BIOCHEMICAL GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Houda Harmak, Salaheddine Redouane, Hicham Charoute, Ouafaa Aniq Filali, Abdelhamid Barakat, Hassan Rouba
Summary: Telomere integrity is crucial for chromosome stability and cell survival. Variations in the TERF1 gene have been associated with different diseases, including male infertility. This study identified four damaging SNPs that greatly affect the function, stability, flexibility, and compaction of the TERF1-TERB1 complex, suggesting their potential use as genetic biomarkers for diagnosing male infertility.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2023)
Article
Clinical Neurology
C. Ait El Cadi, L. Dafrallah, G. Amalou, M. Charif, H. Charoute, A. Araqi-Houssaini, H. Lakhiari, G. Lenaers, A. Barakat
Summary: This article presents the cases of two Moroccan patients with different hereditary neurological disorders. Gene analysis identified mutations in genes associated with these disorders and molecular modeling studies were conducted to understand the impact of these mutations. The results contribute to better understanding and treatment of these diseases.
REVUE NEUROLOGIQUE
(2023)
Article
Biochemistry & Molecular Biology
Imane AitRaise, Ghita Amalou, Amina Bakhchane, Amale Bousfiha, Houria Abdelghaffar, Charif Majida, Crystel Bonnet, Christine Petit, Abdelhamid Barakat
Summary: This study identified novel variants in two hearing loss-related genes in the Moroccan population and predicted their pathogenic effects. The results demonstrate the value of whole-exome sequencing in diagnosing hearing loss.
BIOCHEMICAL GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Imane Aitraise, Ghita Amalou, Salaheddine Redouane, Hicham Charoute, Khalid Snoussi, Houria Abdelghaffar, Crystel Bonnet, Christine Petit, Abdelhamid Barakat
Summary: In this study, a homozygous WHRN gene variant was found in a Moroccan family using whole exome sequencing. Bioinformatics methods and molecular dynamic modeling predict that this variant might result in a change in the structure of the WHRN protein.
MOLECULAR BIOLOGY REPORTS
(2023)
Article
Genetics & Heredity
Ghita Amalou, Imane Aitraise, Aymane Bouzidi, Soukaina Essadssi, Majida Charif, Mostafa Kandil, Sophie Boucher, Guy Lenaers, Abdelhamid Barakat
Summary: This study analyzed two consanguineous families with Alport syndrome and Carnevale, Mingarelli, Malpuech, and Michels syndrome through whole exome sequencing, and identified two novel homozygous variants. The findings reveal the molecular variability of these syndromes and contribute to expanding the molecular diagnosis of deafness in Morocco.
