Extreme High Prevalence of a Defective Mannose-Binding Lectin (MBL2 ) Genotype in Native South American West Andean Populations
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Fecha
2014Autor(es)
Sandoval Sandoval, José Raul
Madsen, Hans O.
De Stefano, Gianfranco
Descailleaux-Dulanto, Jaime
Velazquez Reinoso, Margarita Rosa Eugenia
Ñique Carbajal, César
Fujita, Ricardo
Garred, Peter
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Mannose-binding lectin (MBL) is one of the five recognition molecules in the lectin complement pathway. Common variant
alleles in the promoter and structural regions of the human MBL gene (MBL2) influence the stability and serum
concentration of the protein. Epidemiological studies have shown that MBL2 variant alleles are associated with susceptibility
to and the course of different types of infectious and inflammatory conditions. However, it has been suggested that these
alleles are maintained in different populations due to selected advantages for carriers. We investigated the MBL2 allelic
variation in indigenous individuals from 12 different West Central South America localities spanning from the desert coast,
high altitude Andean plates and the Amazon tropical forest within the territories of Peru (n = 249) (Departments of Loreto,
Ucayali, Lambayeque, Junin, Ayacucho, Huancayo and Puno), and Ecuador (n = 182) (Region of Esmeraldas and Santo
Domingo de los Colorados). The distribution of MBL2 genotypes among the populations showed that the defective variant
LYPB haplotype was very common. It showed the highest frequencies in Puno (Taquile (0.80), Amantani (0.80) and Anapia
(0.58) islander communities of the Lake Titicaca), but lower frequencies of 0.22 in Junin (Central Andean highland) and
Ucayali (Central Amazonian forest), as well as 0.27 and 0.24 in the Congoma and Cayapa/Chachis populations in the
Amazonian forest in Ecuador were also observed. Our results suggest that the high prevalence of the MBL2 LYPB variant
causing low levels of functional MBL in serum may mainly reflect a random distribution due to a population bottleneck in
the founder populations.
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