Whole exome sequencing detects novel variants in Saudi children diagnosed with eczema

Bogari, Neda M.; Amin, Amr; Rayes, Husni H; Abdelmotelb, Ahmed; Al‐Allaf, Faisal A.; Dannoun, Anas; Al-Amodi, Hiba S.; Sedayo, Anas A.; Almalk, Hilal; Moulana, Amna; Balkhair, Rania; Jambi, Fatma A.; Madani, Fakhriah; Abutalib, Mwafaq; Taher, Mohiuddin M.; Bouazzaoui, Abdellatif; Aljohani, Ashwag; Bogari, Mustafa N; Raja, Ghazala Kaukab; Fawzy, Ahmed; Alharbi, Khalid Khalaf; Khan, Imran Ali

doi:10.1016/j.jiph.2019.05.020

Cited by 3 publications

(2 citation statements)

References 27 publications

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“…The inclusion criteria of the vitiligo cases were adopted from based on Vitiligo European Task Force ( Taïeb et al, 2007 ). The exclusion criteria of the vitiligo cases are based on other skin diseases such as eczema ( Bogari et al, 2020 ) apart from vitiligo. The inclusion criteria of the control subjects are patients confirmed without any skin and other diseases.…”

Section: Methodsmentioning

confidence: 99%

Deleterious effect of angiotensin-converting enzyme gene polymorphism in vitiligo patients

Basher

Malik

Aldakheel

et al. 2021

Saudi Journal of Biological Sciences

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Vitiligo is a rare skin condition caused by an immune reaction. Vitiligo can occur anywhere on the body. This proposed explanation of vitiligo makes it clear that vitiligo is not linked to any other autoimmune diseases. The polymorphisms of some genes present in the immune system play a major function in susceptibility of vitiligo. Meta-analysis studies have shown that the Angiotensin converting enzyme (ACE) gene insertion and deletion polymorphism is closely associated with vitiligo in many ethnicities. The connection between ACE gene and vitiligo is connected through the auto immune diseases and there are no genetic polymorphism studies have been carried out with ACE gene with vitiligo in the Saudi population. Previous studies show that vitiligo patients are more likely to also have an autoimmune disorder. The current study aims to investigate the I/D polymorphism in the ACE gene with diagnosed patients with vitiligo subjects. This is a case-control study carried out in the Saudi population with 100 vitiligo cases and 100 healthy controls. Genotyping was performed through polymerase chain reaction followed by 3% agarose gel electrophoresis. Genotype and allele frequencies were carried out with genetic mode of inheritances. Statistical analysis was performed considering p < 0.05 as significant association. There was a substantial difference in allele frequency distribution between vitiligo patients and healthy controls (OR-1.70 (95%CI: 1.14–2.53); p = 0.008). Additionally, DD genotype (OR-4.71 (95%CI: 1.42–15.61); p = 0.008) and recessive model (OR-2.66 (95%CI: 1.41–5.02); p = 0.002) was strongly associated. Both dominant and co-dominant showed the negative association (p > 0.05) when compared between the vitiligo cases and controls. The correlation between age and genotyping was performed with Anova analysis and current study results confirmed the substantial link between 11 and 20 years (p = 0.01) and 31–40 years (p = 0.04) with the defined age groups. In conclusion, in Saudi populations, the ACE gene I/D polymorphism was identified as being correlated with vitiligo. This is the first study in Saudi Arabia to report the risk factors of vitiligo with the ACE gene polymorphism.

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Section: Methodsmentioning

confidence: 99%

Deleterious effect of angiotensin-converting enzyme gene polymorphism in vitiligo patients

Basher

Malik

Aldakheel

et al. 2021

Saudi Journal of Biological Sciences

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“…It remains unclear what the role is of FLG mutations specifically in Arab Middle Eastern populations. In a study by Bogari et al, exome sequencing was carried out on Saudi Arabian children with AD and four mutations were discovered which were not previously connected with eczema [25].…”

Section: Genetics and The Immune Systemmentioning

confidence: 99%

Burden of Disease and Unmet Needs in the Diagnosis and Management of Atopic Dermatitis in the Arabic Population of the Middle East

Mahmoud

Yosipovitch

Attia

2023

JCM

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Atopic dermatitis (AD) affects diverse ethnic groups with significant disparities in prevalence, disease progression, clinical outcomes, and access to care. There are limited data on AD in the Arabic population of the Middle East, yet there is a substantial economic and psychosocial burden of AD in this region with a large unmet need with regards to disease management that is critical to address. There is a trend of increasing prevalence of AD in the Arab Middle East; however, due to the large environmental, socioeconomic, and sociocultural heterogeneity of this region, prevalence varies greatly across and within countries. Similarly, clinical differences in disease presentations exist across the region, although data are limited. In this review, we will present clinical phenotypes of AD common in different regions of the Arab Middle East, and data on prevalence, genetic variations, and challenges of treatment. Further studies exploring molecular biomarkers, genetic polymorphisms, immune factors, and the microbiome of patients in the region will help to elucidate the mechanism behind ethnic differences in AD in this population as well as to understand susceptibilities and treatment response.

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Current Developments of Clinical Sequencing and the Clinical Utility of Polygenic Risk Scores in Inflammatory Diseases

et al. 2021

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In this mini-review, we highlight selected research by the Deutsche Forschungsgemeinschaft (DFG) Cluster of Excellence “Precision Medicine in Chronic Inflammation” focusing on clinical sequencing and the clinical utility of polygenic risk scores as well as its implication on precision medicine in the field of the inflammatory diseases inflammatory bowel disease, atopic dermatitis and coronary artery disease. Additionally, we highlight current developments and discuss challenges to be faced in the future. Exemplary, we point to residual challenges in detecting disease-relevant variants resulting from difficulties in the interpretation of candidate variants and their potential interactions. While polygenic risk scores represent promising tools for the stratification of patient groups, currently, polygenic risk scores are not accurate enough for clinical setting. Precision medicine, incorporating additional data from genomics, transcriptomics and proteomics experiments, may enable the identification of distinct disease pathogeneses. In the future, data-intensive biomedical innovation will hopefully lead to improved patient stratification for personalized medicine.

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Whole exome sequencing detects novel variants in Saudi children diagnosed with eczema

Cited by 3 publications

References 27 publications

Deleterious effect of angiotensin-converting enzyme gene polymorphism in vitiligo patients

Deleterious effect of angiotensin-converting enzyme gene polymorphism in vitiligo patients

Burden of Disease and Unmet Needs in the Diagnosis and Management of Atopic Dermatitis in the Arabic Population of the Middle East

Current Developments of Clinical Sequencing and the Clinical Utility of Polygenic Risk Scores in Inflammatory Diseases

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