Analysis of filaggrin gene variation in different disease phenotypes
Student name: Ms Manika Lamba
Guide: Dr Pallavi Somvanshi
Year of completion: 2014
Host Organisation: CSIR- Institute of Genomics and Integrative Biology, New Delhi
Supervisor (Host Organisation): Dr Archana Singh and Dr Binuja Varma
Abstract: Atopic dermatitis and ichthyosis vulgaris have emerged as a global public health concern due to
their elevated prevalence and the associated clinical morbidity. Environmental, immunological,
and genetic factors have been implicated in the pathogenesis of these prevalent disorders.
Allergic sensitization and filaggrin gene (FLG) variants have shown to be common predisposing
factors in the development of these allergic disorders. However, there is a lack of knowledge to
know whether the developments of these diseases are single or multiple (coexistence). Filaggrin
is a difficult gene to amplify due to its large size (152Mb).Two primer sets have been used to
amplify this gene. Due to the high repetitive nature of the filaggrin gene, and the size of the gene
that need to be amplified, long PCR is very difficult to standardized. Filaggrin is a gene that
functions in skin barrier, pH maintenance and balancing moisturizing effect of the skin. An
individual can show polymorphism either having one or combination of the alleles resulting in
different copy number among individuals and thus affecting the quantity of filaggrin expressed in
epidermis. Studying CNV can be directly or indirectly associated to the severity of the diseases
and may help in the better understanding the path of evolution. In context of skin, studying copy
number variations can help understand the variations in skin phenotype among individuals and
also throw some light on skin diseases.
KEY WORDS: Atopic dermatitis, Ichthyosis vulgaris, filaggrin (FLG), predisposing factor, copy
number variation (CNV)
