[Alpha-1-antitrypsin phenotypes in togolese population: description of high frequency of rare allele Pi(F) in isolated ethnic group].
OBJECTIVE
The study, which is a ethnobiologic characterization, investigated α(1)-antitrypsin gene polymorphism in the togolese ethnic groups. We aimed to determine the existence of rare or deficient alleles predisposing to pulmonary or hepatic genetic diseases.


METHODS
We focused our study on healthy subjects of two samples by comparing 205 Adélé from relative isolated ethnic group alive in mountain region and 255 subjects from pluriethnic population living on Atlantic coastal region. Data analysis was performed by α(1)-antitrypsin level quantification and serum isoelectric focusing.


RESULTS
The two alleles Pi(M) et Pi(F) frequencies are respectively 0.834 and 0.166 in Adélé; 0.989 and 0.011 in the subjects from pluriethnic population. Phenotypes MM and FM distribution in the two groups is significantly different (p<0.001). However, α(1)-antitrypsin polymorphism does not significantly influence proteinic and lipidic profiles of the subjects in the two samples.


CONCLUSIONS
The Pi(F) allele of α(1) antitrypsin is rare allele in the world global populations. Its very high frequency in Adélé explained by preferential endogamic marriage in this ethnic group. Compared to the subjects from pluriethnic population, more than 30 Adélé subjects present a higher risk to develop pulmonary diseases according to isoform F properties.
Tete-Benissan
A
A
Laboratoire de physiologie et de pharmacologie, faculté des sciences, université de Lomé, BP 1515 Lomé, Togo. ateteben@tg.refer.org
Gbeassor
M
M
D000328:Adult; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007525:Isoelectric Focusing; D008107:Liver Diseases / Q000235:genetics; D008171:Lung Diseases / Q000235:genetics; D008297:Male; D010641:Phenotype; D011110:Polymorphism, Genetic; D014037:Togo; D000515:alpha 1-Antitrypsin / Q000097:blood / Q000235:genetics*
D000515:alpha 1-Antitrypsin