Phenotyping of Lewis and secretor HBGA from saliva and detection of new FUT2 gene SNPs from young children from the Amazon presenting acute gastroenteritis and respiratory infection

• Published in: Infection, genetics and evolution Vol. 70; pp. 61 - 66
• Main Authors: de Moraes, Marcia Terezinha Baroni, Olivares, Alberto Ignácio Olivares, Fialho, Alexandre Madi, Malta, Fábio Correia, da Silva e Mouta Junior, Sergio, de Souza Bispo, Romanul, Velloso, Alvaro Jorge, Alves Leitão, Gabriel Azevedo, Cantelli, Carina Pacheco, Nordgren, Johan, Svenson, Lennart, Miagostovich, Marize Pereira, Leite, José Paulo Gagliardi
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01-06-2019
• Subjects: Acute Disease - epidemiology; Amazon; Brazil; Caliciviridae Infections - epidemiology; Caliciviridae Infections - ethnology; Child, Preschool; Female; Fucosyltransferases - blood; Fucosyltransferases - genetics; Galactoside 2-alpha-L-fucosyltransferase; Gastroenteritis - epidemiology; Gastroenteritis - virology; Genetic Markers; Genetic Predisposition to Disease - ethnology; Histo-blood group antigens; Humans; Infant; Lewis Blood Group Antigens - blood; Lewis Blood Group Antigens - genetics; Male; Polymorphism, Single Nucleotide; Respiratory Tract Infections; Rotavirus Infections - epidemiology; Rotavirus Infections - ethnology; Saliva - virology; Saliva, weak secretor; Single nucleotide polymorphisms; Venezuela; Brazil; Venezuela; Saliva, weak secretor; Single nucleotide polymorphisms; Amazon; Histo-blood group antigens; weak secretor; Saliva
• ISSN: 1567-1348; 1567-7257; 1567-7257
• DOI: 10.1016/j.meegid.2019.02.011

The Histo-blood group antigens (HBGA) are host genetic factors associated with susceptibility to rotavirus (RV) and human norovirus (HuNoV), the major etiological agents of viral acute gastroenteritis (AGE) worldwide. The FUT2 gene expressing the alpha-1, 2-L- fucosyltransferase enzyme is important for gut HBGA expression, and also provides a composition of the phenotypic profile achieved through mutations occurring in populations with different evolutionary histories; as such, it can be considered a genetic population marker. In this study, Lewis and secretor HBGA phenotyping was performed using 352 saliva samples collected from children between three months and five years old born in the Amazon (Brazil, Venezuela and English Guyana) presenting AGE or acute respiratory infection (ARI), the latter considered as control samples. The total of children phenotyped as secretors was 323, corresponding to 91.80%. From these, 207 (58.80%) had a Le (a + b+) profile. The HBGA profiles were equally found in children with AGE as well as with ARI. The rs1047781 of the FUT2 gene was not detected in DNA from saliva cells with a Le (a+b+) profile. However, mutations not yet described in the FUT2 gene were observed: missense 325A>T, 501C>T, 585C>T, 855A>T and missense substitutions 327C>T [S (Ser) > C (Cys)], 446 T>C [L(Leu) > P(Pro)], 723C>A [N(Asn) > K(Lys)], 724A>T [I(Ile) > F(Phe)], 736C>A [H(His) > N(Asn)]. The SNP distribution in the FUT2 gene of the analyzed samples was very similar to that described in Asian populations, including indigenous tribes.
•The phenotype of Lewis and secretor HBGA identified in young children saliva from the Amazon, is mostly Secretor and Le (a + b+).•Le (a + b+) HBGA phenotype found in the saliva of young children from the Amazon (Brazil), has not the 385A>T SNP of the FUT2 gene.•The SNP distribution in the FUT2 gene detected in saliva of young children from the Amazon is very similar to that described in Asian populations.