The Role of Filaggrin and FADS Genes on the Concentrations of PUFA Towards Its Effect on Atopic Dermatitis in Infants
Condition: Atopic Dermatitis
MeSH terms: Dermatitis, Atopic; Dermatitis; Eczema
Study type: Observational

Summary: 
      The incidence of atopic dermatitis has increased dramatically in this years. Atopic
      dermatitis occurs due to complex interactions between genetic and environmental factors. One
      of the genes that consistenly linked with AD occurences is filaggrin gene (FLG gene).
      Mutation on the gene can induce disruption in epidermal cytoskeleton aggregation which serves
      to form protein-lipid, thereby disrupting the skin permeability to water and outside
      particles such as allergens.8-14 Several attempts have been made to prevent the occurences
      and progressivity of AD, one of them is LCPUFA supplementation. Until now, the clinical and
      meta-analysis studies have shown inconsistent results, but LCPUFA intervention in early life
      gives more consistent and protective results. In this study investigators would like to know
      about the influence of FLG gene mutation to the occurrence of atopic dermatitis, to know the
      composition of LCPUFA in early life in order to see protective effects of several LCPUFA, to
      see the influences of FADS1 and FADS2 gene polymorphism towards LCPUFA concentration from
      umbilical artery and buccal swab in early life and at the time AD occurs, to know about the
      diet at the time of AD occurrence, and to know the role of the ratio of DHA towards AA level
      in the development of AD due to their antagonistic effects, and to see the interactions
      between FLG gene, FADS gene and LCPUFA level in the development of AD.
    

Detailed description: 
      STUDY DESIGN Cross-sectional design is used to know the role of FADS1 and FADS2 gene
      polymorphism in LCPUFA composition at birth (from umbilical artery and buccal swab), Extended
      cross-sectional designed is used to look at FLG gene mutation effect as the predictor of the
      emergence of atopic dermatitis, FADS1 and FADS2 gene polymorphism role in atopic dermatitis
      occurences, the role of DHA intake and DHA to AA ratio in preventing atopic dermatitis
      occurences in the first year of life.

      STUDY POPULATION Target population is healthy term newborns. Affordable population is healthy
      term newborns in Jakarta. Study samples are healthy term newborns in Jakarta born in Primary
      Health Care in Kemayoran District, Central Jakarta whose parents consent to take part in this
      study.

      METHODS Briefly, filaggrin gene mutation and FADS1 and FADS2 polymorphism will be examined
      from umbilical blood and LCPUFA level will be measured from umbilical artery and buccal swab
      in 400 newborns. The Material Transfer Agreement (MTA) from Indonesian Health Research and
      Development Institution (Badan Penelitian dan Pengembangan Kesehatan Republik
      Indonesia/LITBANGKES) will be included. Genotyping will be done by using iPLEX Gold chemistry
      (Sequenom) and MALDI-TOF (matrix assisted laser desorption ionization-time of flight) as the
      methods to detect allele differences.

      Every month, breastfeeding; each duration of breastfeeding; formula intake; how much and what
      kind of formula given, if any (regular formula, hypoallergenic formula); will be monitored.
      At the time complementary feeding to breast milk starts, dietary analysis by Food Frequency
      Questionnaire (FFQ), and monitoring of body weight, length, head circumference and skin
      condition will be done.

      If parents complain about the presence of skin disorders or there is a suspicion of AD
      occurfence, investigator's team will ask and accompany parents and subject to Dermatologist.
      If subject can not come, a home visit will be done, and photograph will be taken. The
      dermatologist will later confirm the diagnosis through the photo. LCPUFA level measurement
      will be done once more through buccal swab at the time atopic dermatitis occurs or at the end
      of the monitoring for subjects who do not acquire AD.
    

Observational model: Other
Time perspective: Prospective
Sampling method: Probability Sample
Study population: 
        Target population is healthy term newborns. Affordable population is healthy term newborns
        in Jakarta. Study samples are healthy term newborns in Jakarta born in Primary Health Care
        in Kemayoran District, Central Jakarta whose parents consent to take part in this study.
      
Biospecimen description: 
      Buffy coat-plasma-cheeck cell
    
Keywords: FLG-FADS genes variations-LCPUFA-atopic dermatitis