Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population

An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observed in the Ecuadorian province of Manabí. Recently, the same mutation has been detected in a Galician patient (Northwest of Spain). By analyzing patterns of genetic variation around this mutation in E...

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Published in:Scientific reports 2019-05, Vol.9 (1), p.7175-7175, Article 7175
Main Authors: Esperón-Moldes, U S, Pardo-Seco, J, Montalván-Suárez, M, Fachal, L, Ginarte, M, Rodríguez-Pazos, L, Gómez-Carballa, A, Moscoso, F, Ugalde-Noritz, N, Ordóñez-Ugalde, A, Tettamanti-Miranda, D, Ruiz, J C, Salas, A, Vega, A
Format: Article
Language:English
Subjects:
Cultural characteristics
Ecuador
Founder effect
Genetic diversity
Genotype
Haplotypes
Humans
Ichthyosis
Ichthyosis, Lamellar - genetics
Ichthyosis, Lamellar - pathology
Mutation
Polymorphism, Single Nucleotide
Population growth
Principal Component Analysis
Tandem Repeat Sequences - genetics
Transglutaminases - genetics
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Summary:An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observed in the Ecuadorian province of Manabí. Recently, the same mutation has been detected in a Galician patient (Northwest of Spain). By analyzing patterns of genetic variation around this mutation in Ecuadorian patients and population matched controls, we were able to estimate the age of c.1187G > A and the time to their most recent common ancestor (TMRCA) of c.1187G > A Ecuadorian carriers. While the estimated mutation age is 41 generations ago (~1,025 years ago [ya]), the TMRCA of Ecuadorian c.1187G > A carrier haplotypes dates to just 17 generations (~425 ya). Probabilistic-based inferences of local ancestry allowed us to infer a most likely European origin of a few (16% to 30%) Ecuadorian haplotypes carrying this mutation. In addition, inferences on demographic historical changes based on c.1187G > A Ecuadorian carrier haplotypes estimated an exponential population growth starting ~20 generations, compatible with a recent founder effect occurring in Manabí. Two main hypotheses can be considered for the origin of c.1187G > A: (i) the mutation could have arisen in Spain >1,000 ya (being Galicia the possible homeland) and then carried to Ecuador by Spaniards in colonial times ~400 ya, and (ii) two independent mutational events originated this mutation in Ecuador and Galicia. The geographic and cultural characteristics of Manabí could have favored a founder effect that explains the high prevalence of TGM1 c.1187G > A in this region.
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-019-43133-6