FUT2 Variants Confer Susceptibility to Familial Otitis Media.

ABSTRACT: Non-secretor status due to homozygosity for the common FUT2 variant c.461G>A (p.Trp154^∗) is associated with either risk for autoimmune diseases or protection against viral diarrhea and HIV. We determined the role of FUT2 in otitis media susceptibility by obtaining DNA samples from 609 multi-ethnic families and simplex case subjects with otitis media. Exome and Sanger sequencing, linkage analysis, and Fisher exact and transmission disequilibrium tests (TDT) were performed. The common FUT2 c.604C>T (p.Arg202^∗) variant co-segregates with otitis media in a Filipino pedigree (LOD = 4.0). Additionally, a rare variant, c.412C>T (p.Arg138Cys), is associated with recurrent/chronic otitis media in European-American children (p = 1.2 × 10^-5) and US trios (TDT p = 0.01

SUBMITTER: Santos-Cortez RLP 

PROVIDER: S-EPMC6217759 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature