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

• 全文链接
• 请求原文

作   者：

Baroni de Moraes, Marcia Terezinha;  Olivares Olivares, Alberto Ignacio;  Fialho, Alexandre Madi;  Malta, Fabio Correia;  da Silva e Mouta Junior, Sergio;  Bispo, Romanul de Souza;  Velloso, Alvaro Jorge;  Alves Leitao, Gabriel Azevedo;  Cantelli, Carina Pacheco;  Nordgren, Johan;  Svenson, Lennart;  Miagostovich, Marize Pereira;  Gagliardi Leite, Jose Paulo; 

作者机构：

Postgrad Program Parasite Biol;  Sweden;  Div Mol Virol;  Dept Viral Vaccines;  4365 Manguinhos;  Dept Clin & Expt Med;  S-58185 Linkoping;  Ave Brasil;  2413 Aeroporto;  Oswaldo Cruz Fdn FIOCRUZ;  Oswaldo Cruz Inst;  Lab Comparat & Environm Virol;  RJ;  Linkoping Univ;  RR;  Rio De Janeiro;  Res Ctr Roraima Hlth Observ ObservaRR;  Ave Capitao Ene Garces;  Univ Fed Roraima;  Brazil;  Immunobiol Technol Inst BioManguinhos;  Boa Vista; 

关键词：

Histo-blood group antigens;  weak secretor;  Single nucleotide polymorphisms;  Amazon;  Saliva; 

期刊名称：

Infection, Genetics and Evolution: Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases

i s s n：

1567-1348

年卷期：

2019 年 70 卷

页   码：

61-66

页   码：

摘   要：

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.