Different molecular events result in low protein levels of mannan-binding lectin in populations from southeast Africa and South America
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Different molecular events result in low protein levels of mannan-binding lectin in populations from southeast Africa and South America. / Madsen, H O; Satz, M L; Hogh, B; Svejgaard, A; Garred, P.
I: Journal of immunology (Baltimore, Md. : 1950), Bind 161, Nr. 6, 15.09.1998, s. 3169-75.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Different molecular events result in low protein levels of mannan-binding lectin in populations from southeast Africa and South America
AU - Madsen, H O
AU - Satz, M L
AU - Hogh, B
AU - Svejgaard, A
AU - Garred, P
PY - 1998/9/15
Y1 - 1998/9/15
N2 - Previous studies have shown that three point mutations in exon 1 and a particular promoter haplotype of the mannan-binding lectin (MBL) gene lead to a dramatic decrease in the serum concentration of MBL. In this study, MBL genotypes and serum concentrations were determined in unrelated individuals in a population from Mozambique (n = 154) and in two native Indian tribes from Argentina (i.e., the Chiriguanos (n = 43) and the Mapuches (n = 25)). In both populations, the MBL concentrations were low compared with those found in Eskimo, Asian, and European populations. In Africans, the low serum concentrations were due to a high allele frequency (0.24) of the codon 57 (C) variant, which resulted in a high frequency of individuals with MBL deficiency (0.06), and were also due to the effect of a relatively high frequency (0.13) of low-producing promoter haplotypes. The low concentrations in the South American populations were primarily due to an extremely high allele frequency of the codon 54 (B) variant in both the Chiriguanos (0.42) and the Mapuches (0.46), resulting in high frequencies of individuals with MBL deficiency (0.14 and 0.16, respectively). In the search for additional genetic variants, we found five new promoter mutations that might help to elucidate the evolution of the MBL gene. Taken together, the results of this study show that different molecular mechanisms are the basis for low MBL levels on the two continents.
AB - Previous studies have shown that three point mutations in exon 1 and a particular promoter haplotype of the mannan-binding lectin (MBL) gene lead to a dramatic decrease in the serum concentration of MBL. In this study, MBL genotypes and serum concentrations were determined in unrelated individuals in a population from Mozambique (n = 154) and in two native Indian tribes from Argentina (i.e., the Chiriguanos (n = 43) and the Mapuches (n = 25)). In both populations, the MBL concentrations were low compared with those found in Eskimo, Asian, and European populations. In Africans, the low serum concentrations were due to a high allele frequency (0.24) of the codon 57 (C) variant, which resulted in a high frequency of individuals with MBL deficiency (0.06), and were also due to the effect of a relatively high frequency (0.13) of low-producing promoter haplotypes. The low concentrations in the South American populations were primarily due to an extremely high allele frequency of the codon 54 (B) variant in both the Chiriguanos (0.42) and the Mapuches (0.46), resulting in high frequencies of individuals with MBL deficiency (0.14 and 0.16, respectively). In the search for additional genetic variants, we found five new promoter mutations that might help to elucidate the evolution of the MBL gene. Taken together, the results of this study show that different molecular mechanisms are the basis for low MBL levels on the two continents.
KW - Argentina/ethnology
KW - Base Sequence
KW - Carrier Proteins/blood
KW - Child
KW - Collectins
KW - Denmark/ethnology
KW - European Continental Ancestry Group/genetics
KW - Genetic Variation/immunology
KW - Genotype
KW - Haplotypes
KW - Humans
KW - Indians, South American/genetics
KW - Lectins/blood
KW - Mannans/blood
KW - Molecular Sequence Data
KW - Mozambique
KW - Prospective Studies
KW - Sequence Analysis, DNA
M3 - Journal article
C2 - 9743385
VL - 161
SP - 3169
EP - 3175
JO - Journal of Immunology
JF - Journal of Immunology
SN - 0022-1767
IS - 6
ER -
ID: 202981787