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 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.

Excessive daytime somnolence is associated with hypoglycemia in adult Latinos with type 2 diabetes mellitus.

OBJECTIVE: This study aimed to determine the frequency of sleep disorders in hypoglycemic diabetic patients and possible relationships with scores of sleep disorders and restless legs syndrome in mestizo population in Guayaquil, Ecuador. METHODS: A multicenter, cross-sectional study conducted at an outpatient endocrinology clinic in urban and rural Ecuador regions, included 290 participants with type 2 diabetes mellitus with severe hypoglycemic episodes, completed, validated, and culturally adapted sleep questionnaires to assess daytime sleepiness, risk of sleep apnea and restless legs syndrome. Logistic regression analysis was conducted to identify factors associated with severe hypoglycemia. RESULTS: The prevalence of EDS was 56.8%, RLS prevalence of 46.2%, and 38.6% prevalence of high risk Berlin score. Multivariate logistic regression indicated hypoglycemic T2DM in the range of 56-75 years old were more likely to have high ESS (p 0.0001). CONCLUSION: A high prevalence of sleep disorders in diabetic Latinos living in Ecuador was evidenced. The presence of somnolence in patients older than 56 years and high HbA1c levels should alert the clinician for the occurrence of hypoglycemic episodes.