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Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation by Karen Bedard; Homa Attar; Jérà́me Bonnefont; Vincent Jaquet; Christelle Borel; Olivier Plastre; Marie-José Stasia; Stylianos E. Antonarakis; Karl-Heinz Krause is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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NOX enzymes are reactive oxygen species (ROS)-generating NADPH oxidases. Several members of the NOX family depend on the p22(phox) subunit, encoded by the CYBA gene. CYBA is highly polymorphic, and has been widely studied as a potential risk factor for various diseases, with conflicting results. In the present study, we used Epstein-Barr (EBV)-transformed B-lymphocytes from 50 healthy unrelated individuals to analyze their CYBA mRNA sequence and NOX2-dependent ROS generation. Seven single-nucleotide polymorphisms (SNPs) were identified (five previously described, two novel). The combination of these SNPs yielded 11 distinct haplotypes, which could be grouped into seven haplogroups (A-G). Haplogroup C (c.214T>C, c.521T>C, and c.(\*)24G>A) showed a significantly lower ROS generation, as compared to the most frequent haplogroup, A. CYBA variants from the seven haplogroups were transduced into p22(phox)-deficient B-lymphocytes. The haplogroup C variant showed significantly lower ROS production. c.214T>C and c.521T>C lead to nonsynonymous codon changes, while c.(\*)24G>A lies within the 3'UTR. Using a luciferase/3'UTR construct, we showed that the (\*)24A allele led to decreased reporte

Who reads Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation?

Author

Karen Bedard; Homa Attar; Jérà́me Bonnefont; Vincent Jaquet; Christelle Borel; Olivier Plastre; Marie-José Stasia; Stylianos E. Antonarakis; Karl-Heinz Krause

Publisher

Hindawi Limited

Published

2009

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)