Genetic predisposition of alopecia areata in jordanians: A case-control study

AL-Eitan, Laith N.; Alghamdi, Mansour A.; Momani, Rawan O. Al; Aljamal, Hanan A.; Abdalla, Asim Mohammed; Mohammed, Heitham Mutwakil

doi:10.1016/j.heliyon.2022.e09184

Cited by 3 publications

(5 citation statements)

References 58 publications

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“…In the current study, 5% had nail pitting, this was similar to Al-Eitan et al (29) who reported that nail changes were found in 7.3% of cases. And to Ranawaka [44] who found nail changes in 9% of patients.…”

Section: Discussionsupporting

confidence: 91%

“…In the current study, scalp was affected in 92.5% of all cases, which was similar to Al-Eitan et al (29) who found that the most site affected among AA cases in their study was scalp in 60.5% of cases.…”

Section: Discussionsupporting

confidence: 90%

“…This was similar to Al-Eitan et al (29) who found that 70.4% of AA cases were males, while 29.6% only were females, and to other ethnic groups that have a male predominance (30)(31)(32) .…”

Section: Discussionsupporting

confidence: 89%

“…However, Al-Eitan et al (29) findings have no gender statistical differences, also De Waard-van der Spek et al (36) found that the sex incidence is equal.…”

Section: Discussionmentioning

confidence: 93%

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Evaluation of serum Level of Human Beta Defensin 1 patients With Alopecia Areata

El-moneam

Ebrahim²,

Mustafa³

et al. 2022

Benha Journal of Applied Sciences

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Alopecia areata is an autoimmune disease characterized by non-scarring hair loss in single or multiple areas of the scalp, face or body. Human beta-defensin 1 is a protein that in humans is encoded by the DEFB1 gene. Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Human beta defensin 1 was purified from hemodialysate fluid, but its tissue sources were not identified. Aim:To evaluate serum level of human beta defensin 1 to reveal its role in alopecia areata pathogenesis and to relate with studied clinical parameters. Patients and methods: This prospective casecontrol study was included fourty patients with AA (Group A) and fourty age and sex matched apparently healthy subjects as a control group (Group B). Patients were selected from the Dermatology outpatient clinic of Benha University Hospitals in the period between December 2018 and June 2019. Results:we found that AA group showed no significant difference in serum level of HBD-1 when compared to control group (p=0.03). HBD-1 concentration was not considered as predictor of AA.Conclusion: HBD-1 concentration was not considered as a predictor of AA susceptibility and severity.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 90%

“…This was similar to Al-Eitan et al (29) who found that 70.4% of AA cases were males, while 29.6% only were females, and to other ethnic groups that have a male predominance (30)(31)(32) .…”

Section: Discussionsupporting

confidence: 89%

“…However, Al-Eitan et al (29) findings have no gender statistical differences, also De Waard-van der Spek et al (36) found that the sex incidence is equal.…”

Section: Discussionmentioning

confidence: 93%

See 2 more Smart Citations

Evaluation of serum Level of Human Beta Defensin 1 patients With Alopecia Areata

El-moneam

Ebrahim²,

Mustafa³

et al. 2022

Benha Journal of Applied Sciences

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“…Both technologies are based on mass spectrometry and share similarities in sample preparation processes; however, EpiTYPER technology does not enable the simultaneous assessment of methylation in multiple CpGs across different genes. But, at the same time, the iPlex MassARRAY technology was successfully used in previous studies to determine somatic mutations in cancer [28,53,54], and to search for the genetic causes of non-syndromic hearing loss [26], phenylketonuria [55], rheumatoid arthritis [56], cognitive impairment [54], ischemic stroke [57], and alopecia areata [58]. On the other hand, iPlex MassARRAY technology has also been used to assess the degree of DNA methylation [59,60].…”

Section: Discussionmentioning

confidence: 99%

Building Minimized Epigenetic Clock by iPlex MassARRAY Platform

Davydova,

Perenkov,

Vedunova

2024

Genes

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Epigenetic clocks are valuable tools for estimating both chronological and biological age by assessing DNA methylation levels at specific CpG dinucleotides. While conventional epigenetic clocks rely on genome-wide methylation data, targeted approaches offer a more efficient alternative. In this study, we explored the feasibility of constructing a minimized epigenetic clock utilizing data acquired through the iPlex MassARRAY technology. The study enrolled a cohort of relatively healthy individuals, and their methylation levels of eight specific CpG dinucleotides in genes SLC12A5, LDB2, FIGN, ACSS3, FHL2, and EPHX3 were evaluated using the iPlex MassARRAY system and the Illumina EPIC array. The methylation level of five studied CpG sites demonstrated significant correlations with chronological age and an acceptable convergence of data obtained by the iPlex MassARRAY and Illumina EPIC array. At the same time, the methylation level of three CpG sites showed a weak relationship with age and exhibited a low concordance between the data obtained from the two technologies. The construction of the epigenetic clock involved the utilization of different machine-learning models, including linear models, deep neural networks (DNN), and gradient-boosted decision trees (GBDT). The results obtained from these models were compared with each other and with the outcomes generated by other well-established epigenetic clocks. In our study, the TabNet architecture (deep tabular data learning architecture) exhibited the best performance (best MAE = 5.99). Although our minimized epigenetic clock yielded slightly higher age prediction errors compared to other epigenetic clocks, it still represents a viable alternative to the genome-wide epigenotyping array.

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Clinical and Genetic Aspects of Alopecia Areata: A Cutting Edge Review

Chen

et al. 2023

Genes

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Alopecia areata (AA) is a chronic, non-scarring, immune-mediated skin disease that affects approximately 0.5–2% of the global population. The etiology of AA is complex and involves genetic and environmental factors, with significant advancements in genetic research occurring in recent years. In addition to well-known genes such as PTPN22, CTLA4, and IL2, which have been widely supported as being associated with AA, an increasing number of specific gene-related loci have been discovered through advances in genetic research. For instance, gene analysis of microRNAs can reveal the critical role of miRNAs in regulating gene expression, aiding in the understanding of cellular and organismal functional regulatory mechanisms. Furthermore, numerous studies have confirmed the existence of correlations between AA and other immune-related diseases. Examples include hyperthyroidism and rheumatoid arthritis. By understanding the interrelationships between AA and other immune diseases, we can further comprehend potential shared genetic foundations or pathogenic mechanisms among different diseases. Genetic research plays a crucial role in unraveling the pathogenesis of AA, as the identification of genetic variations associated with AA can assist in formulating more effective and targeted treatment strategies.

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Genetic predisposition of alopecia areata in jordanians: A case-control study

Cited by 3 publications

References 58 publications

Evaluation of serum Level of Human Beta Defensin 1 patients With Alopecia Areata

Evaluation of serum Level of Human Beta Defensin 1 patients With Alopecia Areata

Building Minimized Epigenetic Clock by iPlex MassARRAY Platform

Clinical and Genetic Aspects of Alopecia Areata: A Cutting Edge Review

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