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Published on: January 27, 2018
EDA2R is associated with androgenetic alopecia
Dionigio Antonio Prodi1, Nicola Pirastu, Giuseppe Maninchedda
1Shardna Life Sciences, Pula, Italy.
Researchers identified a strong genetic link between the EDA2R gene and androgenetic alopecia (AGA), a common hair loss condition. This finding provides new insights into the genetic causes of AGA.
Area of Science:
- Genetics
- Dermatology
- Human Evolution
Background:
- Androgenetic alopecia (AGA) is a common, heritable, polygenic disorder with incompletely understood genetics, though it appears X-linked.
- Previous research suggests a complex genetic basis for AGA, necessitating large-scale population studies for deeper insights.
Purpose of the Study:
- To investigate the genetic underpinnings of androgenetic alopecia (AGA) by conducting an epidemiological survey and genetic association analysis.
- To identify specific genetic loci on the X chromosome associated with AGA in a Sardinian population.
Main Methods:
- Epidemiological survey of 9,000 individuals in isolated Sardinian villages to identify AGA cases.
- Genotyping of 400 individuals (200 cases, 200 controls) using a 500k chip array, followed by X chromosome association analysis.
- Fine-mapping association analysis of candidate genes EDA2R and AR in a larger cohort (492 cases, 492 controls).
Main Results:
- A significant association between the Xq11-q12 region and AGA was identified.
- The single nucleotide polymorphism (SNP) rs1385699 in the EDA2R gene showed a highly significant association with AGA (P=3.9e(-19)).
- Association with the AR gene was less significant and appeared to be due to linkage disequilibrium, unlike the independent association with EDA2R.
Conclusions:
- The EDA2R gene is strongly implicated in the etiology of androgenetic alopecia.
- Genetic findings provide novel insights into the molecular pathways contributing to AGA.
- This study highlights the importance of specific X-linked genes in common hair loss disorders.
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