Fatma Mohamed El-Esawy1,2,3,4, Heba Mohamed Abd El-Kareem1,2,3,4, Ayman Abdell-All Mohamady1,2,3,4, Amany Mohammed Mohammed Agamy1,2,3,4, Rehab Mohammed Salem1,2,3,4. 1. Drs. El-Esway and Salem are Assistant Professors of Dermatology, Dermatology Department, Faculty of Medicine, at Benha University in Benha, Egypt. 2. Dr. El-Kareem is a Lecturer of Medical Biochemistry, Medical Biochemistry Department, Faculty of Medicine, at Benha University in Benha, Egypt. 3. Dr. Mohamady is a Lecturer of Otorhinolaryngology, Faculty of Medicine, at Benha University in Benha, Egypt. 4. Dr. Agamy is a Dermatology Resident at Ministry of Health Hospital in Egypt.
Abstract
INTRODUCTION: Proteasome subunit beta type-8 (PSMB8) is a protein that contributes to the complete assembly of 20S proteasome complexes, which play a role in the pathogenesis of vitiligo. OBJECTIVE: The study aimed to evaluate the association between PSMB8 gene polymorphisms with vitiligo to assess its clinical significance among a sample of Egyptian patients with vitiligo. METHODS: Genomic DNA was isolated from blood samples of 100 patients with vitiligo and 100 control subjects, and detection of PSMB8 polymorphisms was done by real-time PCR. Data analysis was carried out for the entire cohort. Statistics were performed using software. Audiological evaluation was performed, including pure-tone audiometry, extended high-frequency audiometry, transient evoked otoacoustic emissions, and auditory brainstem response. RESULTS: There was a significant difference between PSMB8 genotypes and alleles distribution in patients and control groups. Ten percent of the study sample had sensorineural hearing loss. The patients with hearing loss were significantly older (P=0.0002), had significantly later age of onset (P=0.0007), longer duration (P=0.0021), higher body mass index (BMI) (P=0.045), and higher vitiligo area scoring index (VASI) scores (P=0.0015). All patients had extensive forms of vitiligo (generalized and universal). Regarding the VIT rs2071543 polymorphism, all of the patients with hearing loss were carrying the CA and AA genotypes. None of the patients carried the reference genotype, CC. The A allele of VIT rs2071543 was significantly associated with hearing affection (P=0.024). CONCLUSION: In our study, PSMB8 polymorphism was associated with the susceptibility to develop vitiligo and appeared to have clinical significance among the studied group of patients. Factors predicting auditory abnormalities should be further studied for early detection and management.
INTRODUCTION: Proteasome subunit beta type-8 (PSMB8) is a protein that contributes to the complete assembly of 20S proteasome complexes, which play a role in the pathogenesis of vitiligo. OBJECTIVE: The study aimed to evaluate the association between PSMB8 gene polymorphisms with vitiligo to assess its clinical significance among a sample of Egyptian patients with vitiligo. METHODS: Genomic DNA was isolated from blood samples of 100 patients with vitiligo and 100 control subjects, and detection of PSMB8 polymorphisms was done by real-time PCR. Data analysis was carried out for the entire cohort. Statistics were performed using software. Audiological evaluation was performed, including pure-tone audiometry, extended high-frequency audiometry, transient evoked otoacoustic emissions, and auditory brainstem response. RESULTS: There was a significant difference between PSMB8 genotypes and alleles distribution in patients and control groups. Ten percent of the study sample had sensorineural hearing loss. The patients with hearing loss were significantly older (P=0.0002), had significantly later age of onset (P=0.0007), longer duration (P=0.0021), higher body mass index (BMI) (P=0.045), and higher vitiligo area scoring index (VASI) scores (P=0.0015). All patients had extensive forms of vitiligo (generalized and universal). Regarding the VIT rs2071543 polymorphism, all of the patients with hearing loss were carrying the CA and AA genotypes. None of the patients carried the reference genotype, CC. The A allele of VIT rs2071543 was significantly associated with hearing affection (P=0.024). CONCLUSION: In our study, PSMB8 polymorphism was associated with the susceptibility to develop vitiligo and appeared to have clinical significance among the studied group of patients. Factors predicting auditory abnormalities should be further studied for early detection and management.