Update (November 2022):

Samples have been collected from 2,157 individuals with frontal fibrosing alopecia (FFA), from the United Kingdom, the United States, Germany, Greece, Italy and Spain. These samples have been processed and genotyping of DNA has been completed. The genotyping data has been subjected to a set of quality control tests to select markers and samples of high quality. Analysis is underway to: 1) identify new risk loci associated with FFA in females, using genome-wide association studies; and (2) identify the relationship between CYP1B1 allele risk and CYP1B1 gene risk in the development of FFA, using gene-environment interactions.

Final update (October 2023): 

The funding provided to this study was part of a larger project investigating the genetics of frontal fibrosing alopecia (FFA). It allowed the researchers to analyse an additional 192 samples. Adding to this large dataset gives the researchers a better ability to identify which genes are involved in FFA. The analysis highlights which genes are different in people with FFA compared to people without FFA, and gives an indication of which processes may be involved in causing this disease. They had previously identified 3 gene loci (location of a gene on a chromosome) which are associated with FFA. After this new analysis, they again found these 3 gene loci were involved, plus an additional one, therefore strengthening their evidence. Based on the findings, it appears that FFA is caused by an autoimmune condition that is strongly influenced by genetic factors related to autoimmunity and hormones metabolism.

They are now working on a scientific publication of their findings. 

Alopecia UK funds invested: £9,975

When:  December 2020 - October 2023

Project type:  Clinical Research

Project Lead:  Dr Christos Tziotzios

Length of project: 3 years

Research Institute: St John’s Institute of Dermatology

Condition of interest:  Frontal Fibrosing Alopecia

Funds being used for:  Consumables

Research Aims:

To identify further independent genomic risk loci linked to Frontal Fibrosing Alopecia (FFA)

To understand the biological role of the FFA-associated genetic variants on expression of genes in the hair follicle, the team aim to study gene expression and regulation and its relationship to genomic variation in human hair follicular units.

Justification for research project:

This research study is investigating a skin condition known as frontal fibrosing alopecia (FFA). This is an increasingly common condition that causes inflammation, scarring and permanent hair loss almost exclusively in women. Skin inflammation starts from the scalp, which is affected by pain, burning and itching. The inflammation is very difficult to manage and the disease will forge ahead to affect the entire scalp, especially if not treated with strong drugs that suppress the immune system.

Very little was known about what causes the condition, prior to an original large-scale research study, where this team discovered genes that are strongly associated with FFA. In addition to these, their research identified a number of genes which seemed to be important and merited further study.

The team have increased the number of cases recruited since their original research and aim to continue to do so in order to perform a larger, searching across the genome, in a study known as genome-wide meta-analysis.

Who is leading the project:

Dr Tziotzios is currently Consultant Dermatologist and Honorary Clinical Senior Lecturer at St John’s Institute of Dermatology. Prior to training in clinical medicine at Cambridge, he worked as research pharmacologist in the pharmaceutical industry. He has been on the NIHR Integrated Academic Training pathway following graduation from Cambridge. He has been awarded numerous postgraduate research grants and undertook PhD research into the aetiopathogenesis of frontal fibrosing alopecia (FFA). Having established and led a UK-wide research network, he undertook the first large-scale systematic study into FFA, which has provided novel disease insight and culminated in several high-impact publications, including an original article in Nature Communications. He currently is National Chief Investigator for clinical trials in alopecia areata and maintains his academic interest in the genetics of immune-mediated alopecia, lichenoid inflammation and allergy.

Dr Tziotzios will be working with Professor John McGrath, Mary Dunhill Chair in Cutaneous Medicine, Genetic Skin Disease Group Leader and Head of  Institute, St John’s Institute of Dermatology, Faculty of Life Sciences and Medicine, King’s College London and Professor Michael Simpson, Professor of Genetics, Head of Genomic Medicine Group, Department of Medical and Molecular Genetics, Faculty of Life Sciences and Medicine, King’s College London.