Extreme high prevalence of a defective mannose-binding lectin (MBL2) genotype in native South American West Andean populations.

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