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.
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.
Study Type
INTERVENTIONAL
Allocation
RANDOMIZED
Purpose
DIAGNOSTIC
Masking
SINGLE
Enrollment
24
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.
Universitas Indonesia
Jakarta Pusat, Jakarta Special Capital Region, Indonesia
RECRUITINGSeverity of acne vulgaris
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.
Time frame: 1 year
Population structure
Gene testing of blood sample Genetic Inflation Factor (GIF) \>1.1 or \<1.1 Principal Component Analysis (PCA)
Time frame: 3 months
Genomic Profile
Blood sample examination, processed using GWAS Mutations (SNPs)(1)Present(2)Absent
Time frame: 3 months
Linkage disequilibirium (LD)
Gene testing of blood samples Coefficient 0-1
Time frame: 3 months
Haplotype
Gene testing of blood samples Jumlah gen 1. Satu gen 2. Multipel gen
Time frame: 3 months
SNP Enrichment
Gene testing of blood samples Mutation position
Time frame: 3 months
Association analysis and Association analysis of imputation results
Gene testing of blood samples PCA value
Time frame: 3 months
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