Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.

César Paz-Y-Miño,Verónica Yumiceba,Ana Karina Zambrano,Jennyfer M García-Cárdenas,Andrés López-Cortés,Paola E Leone,Patricia Guevara-Ramírez,Juan Carlos Ruiz-Cabezas,Andy Pérez-Villa,Santiago Guerrero,Isaac Armendáriz-Castillo

doi:10.1155/2020/9074760

Abstract

The incidence of cystic fibrosis (CF) and the frequency of the variants reported for CFTR depend on the population; furthermore, CF symptomatology is characterized by obstructive lung disease and pancreatic insufficiency among other symptoms, which are reliant on the individual's genotype. The Ecuadorian population is a mixture of Native Americans, Europeans, and Africans. That population admixture could be the reason for the new mutations reported in a previous study by Ruiz et al. (2019). A panel of 46 Ancestry Informative Markers was used to estimate the ancestral proportions of each available sample (12 samples in total). As a result, the Native American ancestry proportion was the most prevalent in almost all individuals, except for three patients from Guayaquil with the mutation [c.757G>A:p.Gly253Arg; c.1352G>T:p.Gly451Val] who had the highest European composition.

Highlights

Cystic fibrosis (CF) is an autosomal recessive disorder that has been extensively studied among populations [1]
The CF Ecuadorian population is in the middle of them but mainly between the European and Native American reference populations
The present study is the first report of the ancestral composition of CF Ecuadorian patients with new CFTR mutations

Summary

Introduction

Cystic fibrosis (CF) is an autosomal recessive disorder that has been extensively studied among populations [1]. It is characterized by obstructive lung disease, pancreatic insufficiency, diabetes, and liver disease, among others [2]. In the United States, a study reported the CF incidence to be 1 in 9,200 Hispanics and 1 in 10,900 Native Americans, yet the USA has a different population structure to South America [1] [6] [9]. In Latin America, the incidence is 1 per 6,000 live newborns; Ecuador exhibits an incidence of 1 in 11,252 newborns [10,11,12]

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