Acne Vulgaris
Conditions
Keywords
Acne, Acne Vulgaris (AV), Genome Wide Association Study (GWAS), Genetic, Genotype, Deoxyribonucleic Acid (DNA), Single Nucleotide Polymorphism (SNP)
Brief summary
This study is a series of descriptive-analytic studies on genomic variants in the facial skin of patients with AV at the Dermatology and Venereology Polyclinic by determining the genetic profile by GWAS examination in AVB and analysing the genetic profile in AVB against differences in geographical location. The research design used was a cross-sectional design.
Detailed description
Research subjects were obtained from the affordable population who met the research criteria and expressed their willingness to participate in the study. Subject selection was carried out by purposive sampling method that met the inclusion criteria. The study will be conducted in one visit where the patient and his/her parents come to be given an explanation about the study with a request for informed consent, screening for inclusion and exclusion criteria, anamnesis of facial complaints, taking data on demographics, patient's medical history, patient's medical history, physical examination, taking clinical photos in 5 positions and ending with taking blood samples of the patient and blood samples from both parents of the patient as much as 10 mL. The study will be conducted in three places, namely in Jakarta, Padang, and Manado. In sampling in Padang and Manado, to prevent damage to the samples that have been taken, the samples will be stored at a temperature of -20C, then when brought to Jakarta will use a cooler box along with an ice pack at a temperature of 2-3C, before being processed in the Bioinformatics Core Facilities IMERI laboratory, Jakarta. When the samples are collected in Jakarta, the blood samples will be immediately stored in the laboratory at -20C.
Interventions
GENETICGWAS
In GWAS studies, data are collected to determine common variants in a number of individuals, either with or without a common trait (for example,. disease) across the genome, using genome wide SNP arrays.
Sponsors
Indonesia Medical Education and Research Institute
Dr.dr.Irma Bernadette, SpKK (K)
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
DIAGNOSTIC
Masking
SINGLE (Subject)
Eligibility
Sex/Gender
ALL
Age
17 Years to 60 Years
Healthy volunteers
Yes
Inclusion criteria
* Males or females with AVB aged 17-21 years * Both parents of complete subjects with or without a history of acne vulgaris aged up to 60 years * Patients and parents are willing to participate in the study and sign informed consent.
Exclusion criteria
* Patients who have other inflammatory or infectious diseases especially on the face * Have genetic diseases or disorders * Diagnosed with primary or secondary immunodeficiency diseases * Using oral or systemic antibiotic, anti-inflammatory, retinoid or hormone therapy in the past month.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Severity of acne vulgaris | 1 year | Physical examination: identify the number of blackheads, papules, pustules and cysts. Degree of severity:(1)Mild =Comedo\<20, or inflammatory lesion\<15, or total lesion\<30(2)Moderate = Comedo 20-100, or inflammatory lesion15-50, or total lesion 30-125(3)Severe =cyst\>5, or Comedo\>100, or inflammatory lesion\>50, or total lesion\>125. |
| Population structure | 3 months | Gene testing of blood sample Genetic Inflation Factor (GIF) \>1.1 or \<1.1 Principal Component Analysis (PCA) |
| Genomic Profile | 3 months | Blood sample examination, processed using GWAS Mutations (SNPs)(1)Present(2)Absent |
| Linkage disequilibirium (LD) | 3 months | Gene testing of blood samples Coefficient 0-1 |
| Haplotype | 3 months | Gene testing of blood samples Jumlah gen 1. Satu gen 2. Multipel gen |
| SNP Enrichment | 3 months | Gene testing of blood samples Mutation position |
| Association analysis and Association analysis of imputation results | 3 months | Gene testing of blood samples PCA value |
Countries
Indonesia
Contacts
Primary ContactIrma Bernadette, Professor
Outcome results
None listed