Egyptian Populations Research Articles

Molecular typing of Protoparvovirus carnivoran 1 in Egyptian cats diagnosed with feline panleukopenia

Feline panleukopenia (FPL) in cats is caused by either feline parvovirus (FPV) or canine parvovirus (CPV-2), which belong to the same species “Protoparvovirus carnivoran 1”. While FPV is widely recognized as the principal cause of FPL, CPV-2 has been detected at a higher rate than FPV in sick cats in a recent Egyptian study. To assess this conflict, the present study aimed to determine which Protoparvovirus carnivoran 1 is commonly associated with FPL in Egyptian cats. From Dec-2022 to Jan-2024, 43 cats presenting with acute gastroenteritis and testing positive for FPL using in-clinic assay, SNAP® parvo, were tested for Protoparvovirus carnivoran 1 DNA using conventional PCR. Typing of Protoparvovirus carnivoran 1 was conducted by partial VP2 gene sequencing. Additional epidemiological aspects of the disease were investigated, including seasonal pattern, case-fatality rate, median survival time to death, and the association between FPL outcomes and selected factors like age, sex, vaccination status, and clinical signs (vomiting and diarrhea). All cats tested positive for Protoparvovirus carnivoran 1 DNA and FPV was detected in all cats with strong PCR amplicons (n=39). The following seasonal pattern was recorded: cases emerging in autumn, peaking during winter, declining in spring, and disappearing in summer. The case-fatality rate was 41.6%, and the median time to death was two days. None of the studied factors affected FPL outcomes. In conclusion, FPL in Egyptian cat populations is primarily caused by FPV, not CPV-2, and is particularly prevalent in winter.

Credibility of Pont’s index in Egyptian population

BackgroundMany indices have been suggested to help orthodontists in predicting the ideal dental arch width. One of these was Pont’s index which was established by Pont. He suggested equations to predict the ideal maxillary dental arch width (interpremolar and intermolar) from the combined mesiodistal width of the maxillary incisors. This study aimed to test the applicability of Pont’s index as an orthodontic diagnostic tool in Egyptian population and to compare the results with those obtained from studies of different ethnic subjects.MethodsThis study was performed using dental casts of 184 Egyptian individuals (82 males and 102 females; age range, 19–24 years). The casts were divided into 46 casts with normal occlusion, 46 casts with class I, 46 casts with class II and 46 casts with class III malocclusion, according to Angle’s classification. Alginate impressions were taken for all patients and poured immediately using dental plaster. The real models were transformed into digital models using three-dimensional laser scanner to allow digital model analysis. Predicted arch widths were calculated using Pont’s equations. The predicted values were compared to the measured values.ResultsIntra class correlation coefficient (ICC) (absolute agreement) between measured and predicted arch widths was determined. Poor absolute agreement was found between measured arch width values and the corresponding values calculated according to Pont’s index.ConclusionAccording to the results of this study, Pont’s index is not a reliable method for predicting the ideal dental arch widths in Egyptian populations.

Evaluation of Thyroid functions in Patients with End Stage Renal Disease in a Sample of Egyptian Populations

Abstract Background In most cases, hypothyroidism is not linked to kidney disease. However, hypothyroidism has been shown to hasten the development of chronic kidney disease (CKD). Aim of the Work to evaluate thyroid abnormalities in patients with end stage renal disease in a sample of Egyptian populations. Patients and Methods This study was conducted with 70 Egyptian Patients selected from Nephrology department in Theodor Bilharz Research Institute, in a case control study, they were categorized into 2 groups Group 1: Stage V renal disease group (n = 40): patients with eGFR <15 mL/min with no history of thyroid disease or receiving any thyroid medications. Group 2: Age and sex matched health population group (n = 30): with normal renal function with no history of thyroid disease or receiving any thyroid medications. All subjects underwent full thyroid profile, and estimated GFR. Results Symptoms of thyroid dysfunction were more frequent in end stage group, the difference statistically were significant only in muscle weakness. TSH was statistically significantly higher in cases with hypothyroidism. TGABs were statistically significantly higher in cases with hypothyroidism. Antimicrosomal antibodies recorded only in hypothyroid cases, the differences were statistically significant. FT3, TSH, TGABs and thyroid volume statistically had perfect diagnostic performance in diagnosing hypothyroidism among end stage renal disease group. Conclusion Frequency of hypothyroidism was higher in end stage renal disease patients compared to control group. So, it is important to keep monitoring thyroid functions in patients with advanced renal impairment that may enhance quality of life.

Metabolome mapping and DNA fingerprinting of Tribulus terrestris from three different Egyptian populations with the assessment of their morphological characters and antioxidant activity

Tribulus terrestris L. is a cosmopolitan annual herb that grows under various ecological conditions, reflecting the variation in its morphological, chemical, and biological features. T. terrestris was collected from three different populations (I, II, III) in Egypt and subjected to comparative investigation to evaluate the morphological, metabolomic, and genetic variations among these populations. Additionally, the antioxidant activity of the collected specimens was assessed. Significant variations in vegetative morphology were observed among the three populations. Detailed microscopic examination revealed unique traits in the foliar epidermal and pollen grains characteristics of each population. LC-ESI-MS/MS analysis of aqueous methanol extracts led to the tentative identification of 101 compounds across 17 different chemical classes from which flavonoids are predominant and represented by 28 compounds; Polymethoxylated flavones were reported for the first time in the three investigated extracts. GC/FID analysis of diethyl ether extracts identified 12 saturated and 8 unsaturated fatty acids, with linolenic acid being the major component, constituting 52.21 %, 65.71 %, and 49.52 % in populations I, II and III, respectively. The DNA fingerprinting showed variations with 54.54 % polymorphism in ISSR markers, confirming the existence of two distinct genotypes among the studied T. terrestris plants. Furthermore, the extracts from the three populations exhibited weak antioxidant activity against DPPH. The obtained data revealed considerable morphological, metabolomic, and genetic diversity among the three populations of T. terrestris. These findings suggest treating T. terrestris (I) as a distinct variety of T. terrestris and enhancing the understanding of the plant's diversity, which is essential for its effective application in traditional and modern medicinal practices.

The commuting behavior and perception correlates of commuting trips: a comparative study on the Egyptian and migrant populations in Cairo and Alexandria

The commuting behavior and perception correlates of commuting trips: a comparative study on the Egyptian and migrant populations in Cairo and Alexandria

Prevalence, factors associated and management of needle phobia among the general population in Saudi Arabia and Egypt

ObjectiveThis study aims to assess the prevalence of needle phobia among Saudi and Egyptian adult populations. In addition, underlying causes and strategies that can be utilized to address needle fear were investigated.MethodsA cross-sectional online survey study was conducted in Saudi Arabia and Egypt between 1 May and 30 June 2023. Participants aged 18 years and above and living in Saudi Arabia and Egypt were eligible to complete the survey. Participants were invited to participate in this study through social media platforms (Facebook, X, Snapchat, and Instagram). A convenience sampling technique was used to recruit the study participants. A 21-item questionnaire consisting of four sections including a Likert scale score was used to answer the research objectives. Numeric data were presented as mean ± SD. For categorical variables, percentages were used. Comparison between groups were made by Student’s t-test or Mann Whitney test according to data distribution. Chi squared tests for categorical values were conducted. A binary logistic regression analysis was conducted to investigate factors associated with needle phobia.ResultsA total of 4065 participants were involved in this study (Saudi Arabia: 2628 and Egypt: 1437). Around one-third of the study participants (36.5%) confirmed that they have needle phobia. Most of the study participants (81.1%) reported that they have had needle phobia since they were under 18 years of age. Pain, general anxiety, and fear of making a mistake during the procedure were the most commonly reported contributors for fear of needles during or before a medical procedure. Around 15.8% of the study participants reported that they have tried to get rid of phobia from needles. Non-surgical alternatives (such as oral medications and patches) and using smaller/thinner needles were the most commonly reported interventions that reduced fear of needles. Binary logistic regression analysis identified that females, those who are aged (41–50 years), widowed, those with bachelor’s degrees and higher education, and those unemployed were more likely to have needle phobia compared to others.ConclusionOur study highlighted the high prevalence of needle fear within an adult population in Egypt and Saudi Arabia. Females, those who are aged (41–50 years), those widowed, those with higher education degrees, those unemployed, those working in the health sector and people with low income were more likely to have needle phobia compared to others.

First characterization of major histocompatibility complex class II DRB3 diversity in cattle breeds raised in Egypt

Genes encoding bovine leukocyte antigen (BoLA) enable the immune system to identify pathogens. Therefore, these genes have been used as genetic markers for infectious and autoimmune diseases as well as for immunological traits in cattle. Although BoLA polymorphisms have been reported in various cattle breeds worldwide, they have not been studied in cattle populations in Egypt. In this study, we characterized BoLA-DRB3 in two local Egyptian populations and one foreign population using polymerase chain reaction-sequence-based typing (PCR-SBT) method. Fifty-four previously reported BoLA-DRB3 alleles and eight new alleles (BoLA-DRB3*005:08, *015:07, *016:03, *017:04, *020:02:02, *021:03, *164:01, and *165:01) were identified. Alignment analysis of the eight new alleles revealed 90.7–98.9 %, and 83.1–97.8 % nucleotide and amino acid identities, respectively, with the BoLA-DRB3 cDNA clone NR-1. Interestingly, BoLA-DRB3 in Egyptian cattle showed a high degree of allelic diversity in native (na = 28, hE > 0.95), mixed (na = 61, hE > 0.96), and Holstein (na = 18, hE > 0.88) populations. BoLA-DRB3*002:01 (14.3 %), BoLA-DRB3*001:01 (8.5 %), and BoLA-DRB3*015:01 (20.2 %) were the most frequent alleles in native, mixed, and Holstein populations, respectively, indicating that the genetic profiles differed in each population. Based on the allele frequencies of BoLA-DRB3, genetic variation among Egyptian, Asian, African, and American breeds was examined using Nei’s distances and principal component analysis. The results suggested that native and mixed cattle populations were most closely associated with African breeds in terms of their gene pool, whereas Holstein cattle were more distinct from the other breeds and were closely related to Holstein cattle populations from other countries.

Assessment of association between interleukin 6 gene variant and its serum level in chronic obstructive pulmonary disease in a sample of Egyptian population

Abstract Background Researches in chronic obstructive pulmonary disease (COPD) had shown signs of inflammation with inflammatory markers that had pivotal role in COPD. some studies proposed that elevated serum interleukin-6 (IL-6) is associated with negative impact on lung functions but up to our knowledge, no studies were performed to correlate the genotypes of IL-6 with COPD patients in Egyptian and middle east populations. Objectives To study both the correlation of serum level of IL-6 as well as its gene variant (also known as G174C)) as possible genetic marker for COPD patients in Egyptian patients. Materials and methods This study is case-control that enrolled ninety participants; it consisted of two groups. Group I included 45 patients who were diagnosed as stable COPD; Group II included 45 healthy participants. After full clinical and pulmonary functions assessment of all participants, blood samples were collected from both groups for the detection serum level of IL-6 by ELISA and the detection of IL6 variant by TaqMan Real-Time PCR. Results Our study revealed that there was statistically significant increase in serum level of interleukin-6 in COPD patients compared to normal individuals (P value <0.001) and the presence of G/G variant of interleukin 6 gene in COPD patients more than normal subjects with frequency of 84.4% and 53.3% for COPD patients and healthy controls respectively. There was significant correlation between the serum level of interleukin-6 and COPD staging (P value <0.007). Conclusion The genotype GG variant of IL6 contributes to the prediction of COPD and may be used as a marker for the prediction of COPD risk in Egyptian population. Serum level of IL6 is markedly higher in COPD patients and can be used as a parameter of correlation with COPD stages.

Genetic etiology of autism spectrum disorder in the African population: a scoping review.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by significant impairments in social, communicative, and behavioral abilities. However, only a limited number of studies address the genetic basis of ASD in the African population. This study aims to document the genes associated with ASD in Africa and the techniques used to identify them. Additionally, genes identified elsewhere but not yet in Africa are also noted. Online databases such as Wiley Online Library, PubMed, and Africa Journal Online were used. The review was conducted using the keyword related to genetic and genomic ASD study in the African population. In this scoping review, 40 genetic studies on ASD in Africa were reviewed. The Egyptian and South African populations were the most studied, with 25 and 5 studies, respectively. Countries with fewer studies included Tunisia (4), East African countries (3), Libya (1), Nigeria (1), and Morocco (1). Some 61 genes responsible for ASD were identified in the African population: 26 were identified using a polymerase chain reaction (PCR)-based method, 22 were identified using sequencing technologies, and 12 genes and one de novo chromosomal aberration were identified through other techniques. No African study identified any ASD gene with genome-wide association studies (GWAS). Notably, at least 20 ASD risk genes reported in non-African countries were yet to be confirmed in Africa's population. There are insufficient genetic studies on ASD in the African population, with sample size being a major limitation in most genetic association studies, leading to inconclusive results. Thus, there is a need to conduct more studies with large sample sizes to identify other genes associated with ASD in Africa's population using high-throughput sequencing technology.

Adiponectin serum levels and ADIPOQ (rs2241766) polymorphism in alopecia areata Egyptian patients

BackgroundAlopecia Areata (AA) is an acquired autoimmune form of non-scarring hair loss. Adiponectin and its gene polymorphism were related to many autoimmune disorders. ObjectiveAssessment of adiponectin serum levels and adiponectin gene (ADIPOQ) (rs2241766) Single Nucleoid Polymorphism (SNP) in AA patients and correlating the results with the disease severity in those patients. MethodsThis study included 75 AA patients and 75 age and gender-matched healthy subjects (controls). The severity of Alopecia Tool (SALT) score assessment to evaluate AA severity was done. Adiponectin serum levels by ELISA and ADIPOQ (rs2241766) SNP using PCR were performed. ResultsAdiponectin serum levels were significantly lower in AA patients than controls (p = 0.001). ADIPOQ (rs2241766) TG genotype and G allele were significantly predominant in AA patients increasing its risk by 5 and 4 folds (OR = 5.17, p = 0.001), (OR = 3.82, p = 0.001) respectively. Serum adiponectin levels were negatively correlated with SALT score (r = -0.435, p = 0.001) and associated with alopecia totalis (p = 0.016). ADIPOQ (rs2241766) TG genotype was significantly associated with low serum adiponectin levels and higher SALT score (p = 0.001). Study limitationsThe small sample size. ConclusionsADIPOQ (rs2241766) gene polymorphism (TG genotype and G allele) may modulate AA risk and contribute to the development of AA in Egyptian populations. Decreased circulating adiponectin levels may have a dynamic role in AA etiopathogenesis. Adiponectin serum concentration can be considered a severity marker of hair loss in AA.

Insularity determines nestling sex ratio variation in Egyptian vulture populations.

Variation in offspring sex ratio, particularly in birds, has been frequently studied over the last century, although seldom using long-term monitoring data. In raptors, the cost of raising males and females is not equal, and several variables have been found to have significant effects on sex ratio, including food availability, parental age, and hatching order. Sex ratio differences between island populations and their mainland counterparts have been poorly documented, despite broad scientific literature on the island syndrome reporting substantial differences in population demography and ecology. Here, we assessed individual and environmental factors potentially affecting the secondary sex ratio of the long-lived Egyptian vulture Neophron percnopterus. We used data collected from Spanish mainland and island populations over a ca. 30-year period (1995-2021) to assess the effects of insularity, parental age, breeding phenology, brood size, hatching order, type of breeding unit (pairs vs. trios), and spatial and temporal variability on offspring sex ratio. No sex bias was found at the population level, but two opposite trends were observed between mainland and island populations consistent with the island syndrome. Offspring sex ratio was nonsignificantly female-biased in mainland Spain (0.47, n = 1112) but significantly male-biased in the Canary Islands (0.55, n = 499), where a male-biased mortality among immatures could be compensating for offspring biases and maintaining a paired adult sex ratio. Temporal and spatial variation in food availability might also have some influence on sex ratio, although the difficulties in quantifying them preclude us from determining the magnitude of such influence. This study shows that insularity influences the offspring sex ratio of the Egyptian vulture through several processes that can affect island and mainland populations differentially. Our research contributes to improving our understanding of sex allocation theory by investigating whether sex ratio deviations from parity are possible as a response to changing environments comprised by multiple and complexly interrelated factors.

Transmembrane Protein 187 (TMEM187) and Interleukin 1 Receptor Associated Kinase (IRAK1) gene polymorphism association with rheumatoid arthritis susceptibility in Egyptian patients

Rheumatoid arthritis (RA) is a chronic auto-inflammatory disease of connective tissue with progressive joint damage and systemic disorders. RA is considered a multifactorial disease triggered by a genetic predisposition and environmental factors. Polymorphisms have been identified in the Xq28 locus as risk loci for RA. The aim of study was to assess the association between two polymorphisms in the Xq28 region containing Transmembrane Protein 187 (TMEM187) gene (rs13397) and interleukin1 receptor associated kinase (IRAK1) gene (rs1059703) with the disease susceptibility and activity in Egyptian RA patients. This study was conducted on 100 RA patients and 100 age and sex matched normal controls, together were recruited from the Rheumatology Department, Beni-Suef University Hospital. We detected TMEM187 (rs13397) and IRAK1 (rs1059703) gene polymorphisms using the real time PCR TaqMan allelic discrimination assays. We found that the frequency of the major genotypes (GG) of TMEM 187 gene was higher in RA group (54%) compared to controls (50%); while the minor genotypes (AA) was higher in the control group (22%) compared to the diseased one (18%), but such differences did not reach statistical significance (p=0.599). Regarding the IRAK1 gene, we revealed that the frequency of the major genotypes (AA) of the rs1059703 was slightly higher in RA group (48%) compared to controls (46%); while the minor genotypes (GG) was the same in both groups (26%). However, there was higher incidence of minor genotype in the TMEM187 and IRAK1 genes in males; with a statistical significance (p=0.004 and 0.015, respectively). We concluded that the major allele G of TMEM187(rs 13397) could be considered as a risk genetic allele for RA in Egyptian populations.

Genetic Diversity and Maternal Phylogenetic Relationships among Populations and Strains of Arabian Show Horses.

Genetic diversity and phylogenetic relationships within the Arabian show horse populations are of particular interest to breeders worldwide. Using the complete mitochondrial DNA D-loop sequence (916 pb), this study aimed (i) to understand the genetic relationship between three populations, the Desert-Bred (DB), a subset of the Kingdom of Saudi Arabia (KSA), United Arab Emirates (UAE) and Bahrain (BAH), the Straight Egyptian (EG) and the Polish bloodline (PL), and (ii) to assess the accuracy of the traditional strain classification system based on maternal lines, as stated by the Bedouin culture. To that end, we collected 211 hair samples from stud farms renowned for breeding Arabian show horses from Nejd KSA, Bahrain, Egypt, Qatar, Morocco, UAE, and Poland. The phylogenetic and network analyses of the whole mitochondrial DNA D-loop sequence highlighted a great genetic diversity among the Arabian horse populations, in which about 75% of variance was assigned to populations and 25% to strains. The discriminant analysis of principal components illustrated a relative distinction between those populations. A clear subdivision between traditional strains was found in PL, in contrast to the situation of DB and EG populations. However, several Polish horse individuals could not be traced back to the Bedouin tribes by historical documentation and were shown to differ genetically from other studied Bedouin strains, hence motivating extended investigations.

Study of LRRK2 and Beclin-1: Gene expression as autophagic markers in systemic lupus Erythromatosus in Egyptian populations

Study of LRRK2 and Beclin-1: Gene expression as autophagic markers in systemic lupus Erythromatosus in Egyptian populations

Detection and Characterization of an H9N2 Influenza A Virus in the Egyptian Rousette Bat in Limpopo, South Africa.

In recent years, bats have been shown to host various novel bat-specific influenza viruses, including H17N10 and H18N11 in the Americas and the H9N2 subtype from Africa. Rousettus aegyptiacus (Egyptian Rousette bat) is recognized as a host species for diverse viral agents. This study focused on the molecular surveillance of a maternal colony in Limpopo, South Africa, between 2017-2018. A pan-influenza hemi-nested RT-PCR assay targeting the PB1 gene was established, and influenza A virus RNA was identified from one fecal sample out of 860 samples. Genome segments were recovered using segment-specific amplification combined with standard Sanger sequencing and Illumina unbiased sequencing. The identified influenza A virus was closely related to the H9N2 bat-influenza virus, confirming the circulation of this subtype among Egyptian fruit bat populations in Southern Africa. This bat H9N2 subtype contained amino acid residues associated with transmission and virulence in either mammalian or avian hosts, though it will likely require additional adaptations before spillover.

Assessing genetic diversity patterns at neutral and adaptive loci to inform population reinforcement of an endangered migratory vulture

One of the primary goals of conservation translocation programs should be the maintenance of both population demographic stability and genetic diversity. Here, we provide genetic management recommendations to inform a population reinforcement of the declining Egyptian Vulture population in the Balkans. Specifically, we examined whether the number of released individuals is sufficient to prevent genetic diversity loss due to random genetic drift and what the origin of the individuals should be that comprise the captive breeding pool. To this aim, we estimated and assessed genetic diversity levels and genetic structure of Egyptian Vulture populations across much of the species’ range using both neutral and non-neutral candidate loci involved in migration. We then evaluated the effects of the currently proposed population management scheme and candidate source populations on retaining allelic diversity. Our results show low differentiation values among populations and absence of genetic structure which point to past high gene flow. Furthermore, there was no predicted significant impact of different source populations on the genetic diversity of the recipient Balkan population. We also found that the declining Egyptian Vulture population in the Balkans still retains high levels of genetic diversity and therefore genetic diversity restoration is not currently needed. However, without any management, diversity is likely to decrease fast because of increased genetic drift as the population size continues to decline. Population reinforcement with nine birds per year for 20 years would provide sufficient demographic support for the population to retain > 85% of rare allelic diversity. Birds originating from the Balkans would ensure ecological and behavioral similarity and thus would be the best option for reinforcement. Nevertheless, our results demonstrate that to prevent further population contraction and loss of adaptive alleles, releasing individuals of different origin would also be appropriate.

Evaluation of Thyroid Functions in Patients with End Stage Renal Disease in A Sample of Egyptian Populations

Evaluation of Thyroid Functions in Patients with End Stage Renal Disease in A Sample of Egyptian Populations

HOMA estimated insulin resistance as a marker for angiographic severity of coronary artery disease in non-diabetic and non-obese patients.

Insulin resistance (IR) examined by homeostasis model assessment of insulin resistance (HOMA-IR) measures increased carotid atherosclerosis risks in non-diabetic and non-obese persons. The information about the relationship between IR and coronary atherosclerosis severity among non-diabetic and non- obese population showed conflicting results. The goal of the current study was to assess the relationship that links IR and coronary artery disease (CAD) among non-diabetic and non-obese Egyptian populations. 112 non-diabetic and non-obese patients were included in this study. These patients underwent coronary angiogram (CA) either due to acute coronary syndrome (ACS) or chronic stable angina with positive exercise tests. Our study found a strong association between HOMA-IR and Gensini score (r = 0.831,with p<0.001) in general population. The HOMA-IR was the most influential independent predictor for the presence of extensive coronary atherosclerosis. Non-diabetic and non-obese people carrying the risk of developing the three-vessel disease (3VD) may be identified with a HOMA-IR score of over 5.9 according to the ROC curve analysis with a sensitivity of 67.7%. IR that developes in non-diabetic non-obese individuals coincides with more severe and more outspread CAD. In non-diabetic non-obese populations who need a CA, a single HOMA-IR value is higher than 5.9 may imply an elevated risk for clinically significant CAD. As insulin resistance is a reversible process, risk stratifications of CAD in non-diabetic non-obese populations could include HOMA-IR as one of its parameters.

Association between TCF7L2 (rs7903146) and KCNQ1 (rs2237895 &amp; rs2237892) genetic variants and risk of developing type 2 diabetes (T2D) in Egyptian populations

Association between TCF7L2 (rs7903146) and KCNQ1 (rs2237895 &amp; rs2237892) genetic variants and risk of developing type 2 diabetes (T2D) in Egyptian populations

Human beta-defensin 1 circulating level and gene polymorphism in non-segmental vitiligo Egyptian patients

BackgroundVitiligo is an acquired depigmented skin disorder. It has a genetic and autoimmune background. Human beta defensin-1(HBD-1) plus its gene polymorphism were linked to some autoimmune disorders. ObjectiveTo elucidate the possible role of HBD-1 in the pathogenesis of non-segmental vitiligo (NSV) through evaluation of HBD-1 serum levels and its single nucleotide polymorphism (SNP) in patients having NSV, in addition, to correlating the results with the extent of vitiligo in those patients. MethodsA current case-control study included 50 patients having NSV and 50 controls. The authors used Vitiligo Area Scoring Index (VASI) score to assess vitiligo severity and laboratory investigations to assess serum HBD-1 level using ELISA and defensin-beta1 (DEFB1) SNP using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). ResultsThere were significantly lower HBD-1 serum levels in NSV cases than in controls (p < 0.001). There was a significant predominance of GG DEFB1 genotype and G allele in NSV patients in comparison to controls (p < 0.001). The levels of serum HBD-1 and DEFB1 genotypes were not associated or correlated significantly with any of the personal and clinical parameters of vitiligo patients. Study limitationThe small sample size. ConclusionsDEFB1 gene polymorphism (GG genotype and G allele) may modulate vitiligo risk and contribute to vitiligo development in Egyptian populations. Decreased circulating HBD-1 levels might have an active role in vitiligo etiopathogenesis that could be mediated through its possible anti-inflammatory effects.