Article
Medicine, General & Internal
Izzeldin Elbashir, Tagwa Yousif Elsayed Yousif
Summary: This study conducted in Sudan revealed the presence of HB O-Arab genetic mutations among Sudanese sickle cell disease patients, with a frequency of 5%. This is the first molecular confirmation of co-inherited Hb-O Arab/sickle cell disease clinical condition in Sudan. The results highlight the importance of further studies on other sickle variant conditions.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE
(2023)
Article
Biology
Chunbao Xie, Ling Zhong, Jiangrong Luo, Ji Luo, Yingmiao Wu, Shuai Zheng, Lingxi Jiang, Jianbo Zhang, Yi Shi
Summary: This study explored the clinical significance of mutated genes in multiple myeloma (MM) in the Chinese population. The mutations and low expression of BCL6, BIRC3, HLA-DQA1, and VCAN were found to be correlated with poor prognosis and immune cell infiltration in MM. This study is the first to reveal the spectrum of mutations in the Chinese population.
COMPUTERS IN BIOLOGY AND MEDICINE
(2023)
Article
Medicine, General & Internal
Zhezhe Cui, Jun Liu, Yue Chang, Dingwen Lin, Dan Luo, Jing Ou, Liwen Huang
Summary: The study found that Beijing family strains had a significantly higher proportion in hot spots compared to cold spots, and mutations in related genes showed significant differences between the two. Additionally, age, BMI, and polymorphisms in the Rv0210 gene were identified as significant factors in the transmission and development of M. tb.
Article
Genetics & Heredity
Gihan Daw Elbait, Andreas Henschel, Guan K. Tay, Habiba S. Al Safar
Summary: This study conducted genome sequencing of the population of the UAE, establishing the first population-specific major allele reference genome for the country and identifying genetic characteristics such as loss-of-function variants and ancestral haplogroup distribution. The research also found a strong correlation between F-ST and admixture components in the UAE.
FRONTIERS IN GENETICS
(2021)
Article
Medicine, General & Internal
J. Francis Borgio
Summary: More than 25 million DNA variations, including major alleles from the Arab population, have been discovered through the Arab population database. Exome studies on the Saudi genome have identified over 3000 novel nucleotide variants associated with more than 1200 rare genetic disorders. The reclassification of pathogenic variants through the Arab database facilitates the construction of a detailed map of the human morbid genome.
ARCHIVES OF MEDICAL SCIENCE
(2023)
Article
Multidisciplinary Sciences
Balsam Qubais Saeed, Iffat Elbarazi, Mai Barakat, Ahmed Omer Adrees, Kubais Saeed Fahady
Summary: This study evaluated the knowledge and practices towards COVID-19 among the general public in the UAE, finding that the majority of respondents had high levels of knowledge and practices. However, certain demographics like males, older individuals, those with lower educational levels, singles, and unemployed individuals had lower levels of knowledge and practices.
Article
Multidisciplinary Sciences
Aastha Vatsyayan, Parul Sharma, Shrey Gupta, Sumiti Sandhu, Seetha Lakshmi Venu, Vandana Sharma, Bouabid Badaoui, Kaidi Azedine, Serti Youssef, Anna Rajab, Alaaeldin Fayez, Seema Madinur, Anop Ranawat, Kavita Pandhare, Srinivasan Ramachandran, Sridhar Sivasubbu, Vinod Scaria
Summary: The Arab population has genetic diversity and high prevalence of certain genetic diseases, yet lacks a database for clinical relevant genetic variants. The DALIA database aims to fill this gap by providing a comprehensive resource for genetic variant analyses and aiding clinical interpretation, genetic epidemiology, rapid screening, and evaluation of genetic diseases.
Review
Public, Environmental & Occupational Health
Naim Abu-Freha, Hadel Alsana, Sabri El-Saied, Zuya Azbarga, Muhammad Aloka, Tarek Goda, Muhammad Abu Tailakh
Summary: The causes of low COVID-19 vaccination rates among the Arab Bedouin population in Israel are related to healthcare system infrastructure, crisis management strategies, and population characteristics. Culturally adapted awareness campaigns, interventions, and improved access to vaccines are key interventions for increasing vaccination rates among minorities.
INTERNATIONAL JOURNAL OF PUBLIC HEALTH
(2022)
Article
Biochemistry & Molecular Biology
Asgar Ali, Abhay Kumar Sharma, Pramod Kumar Mishra, Sundeep Singh Saluja
Summary: SPOP and APC genes play a suppressive role in colorectal cancer, but their clinical significance has not been established. Mutation rates of APC and SPOP gene were 2.8% and 11.9%, while the occurrence of promoter hypermethylation were 37% and 47%, respectively. APC promoter methylation was associated with tumor differentiation and lymph node metastasis. APC promoter methylation was associated with prognosis, while loss of SPOP expression was associated with worse survival.
MOLECULAR GENETICS AND GENOMICS
(2023)
Article
Biochemistry & Molecular Biology
Nelson T. Chuang, Eugene J. Gardner, Diane M. Terry, Jonathan Crabtree, Anup A. Mahurkar, Guillermo L. Rivell, Charles C. Hong, James A. Perry, Scott E. Devine
Summary: This study successfully discovered a large number of MEIs in tens of thousands of human genomes and exomes using a newly developed mobile element locator tool. It provides new insights into the mechanisms of MEI mutagenesis and their impact on the human genome.
Review
Biochemistry & Molecular Biology
Lama Jaffal, Hawraa Joumaa, Zamzam Mrad, Christina Zeitz, Isabelle Audo, Said El Shamieh
Summary: A systematic review of genetic findings of rod-cone dystrophy in Arab countries revealed a significant difference in prevalence among different populations, with autosomal recessive inheritance being the most common. RP1 and TULP1 were the most frequently mutated genes, possibly due to founder effects. Additional research is needed despite the increased interest and expertise in RCD over the past decade.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Review
Genetics & Heredity
Sanna Gudmundsson, Colleen M. Carlston, Anne O'Donnell-Luria
Summary: Reference population databases such as gnomAD have improved our ability to interpret the human genome, but clonal hematopoiesis (CH) poses challenges in variant interpretation. Somatic variants associated with CH can affect variant frequencies and downstream filtering. Filtering variants or genes associated with CH may inadvertently exclude true germline variants and cause Mendelian conditions. Here, we provide insights and recommendations for interpreting population variant data in genes affected by CH, specifically focusing on 36 established CH genes associated with neurodevelopmental conditions.
Article
Multidisciplinary Sciences
Shaza B. Zaghlool, Anna Halama, Nisha Stephan, Valborg Gudmundsdottir, Vilmundur Gudnason, Lori L. Jennings, Manonanthini Thangam, Emma Ahlqvist, Rayaz A. Malik, Omar M. E. Albagha, Karsten Suhre, Abdul Badi Abou-Samra
Summary: This study translates T2D subtypes previously identified in European individuals to an Arab population and identifies specific metabolic and proteomic signatures for each subtype, providing further understanding of the pathogenesis of these subtypes.
NATURE COMMUNICATIONS
(2022)
Article
Biology
Irving Cancino-Munoz, Mariana G. Lopez, Manuela Torres-Puente, Luis M. Villamayor, Rafael Borras, Maria Borras-Manez, Montserrat Bosque, Juan J. Camarena, Caroline Colijn, Ester Colomer-Roig, Javier Colomina, Isabel Escribano, Oscar Esparcia-Rodriguez, Francisco Garcia-Garcia, Ana Gil-Brusola, Concepcion Gimeno, Adelina Gimeno-Gascon, Barbara Gomila-Sard, Damiana Gonzales-Granda, Nieves Gonzalo-Jimenez, Maria Remedios Guna-Serrano, Jose Luis Lopez-Hontangas, Coral Martin-Gonzalez, Rosario Moreno-Munoz, David Navarro, Maria Navarro, Nieves Orta, Elvira Perez, Josep Prat, Juan Carlos Rodriguez, Ma Montserrat Ruiz-Garcia, Hermelinda Vanaclocha, Inaki Comas
Summary: Transmission is a driver of tuberculosis (TB) epidemics in high-burden regions, with assumed negligible impact in low-burden areas. However, we still lack a full characterization of transmission dynamics in settings with similar and different burdens. Genomic epidemiology can greatly help to quantify transmission, but the lack of whole genome sequencing population-based studies has hampered its application.
Article
Genetics & Heredity
Katarzyna Gliniewicz, Wojciech Kluzniak, Dominika Wokolorczyk, Tomasz Huzarski, Klaudia Stempa, Helena Rudnicka, Anna Jakubowska, Marek Szwiec, Joanna Jarkiewicz-Tretyn, Mariusz Naczk, Tomasz Kluz, Tadeusz Debniak, Jacek Gronwald, Jan Lubinski, Steven A. A. Narod, Mohammad R. R. Akbari, Cezary Cybulski
Summary: We detected APOBEC3B mutations in 4 out of 617 hereditary breast cancer patients in Poland, and found the same mutation in 60 out of 12484 unselected breast cancer cases. However, there was no clear association between the mutation and breast cancer risk.
