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Mutations in Siglec-8 gene may play role in asthma: Research

January 29, 2016

To confirm these results, the researchers performed a similar investigation on two racially different populations: 822 individuals among 356 nuclear families, each with at least one child with asthma, recruited from the Conde District of Bahia, Brazil, and 468 volunteers with asthma and 457 without asthma recruited from a pulmonary clinic at Hokkaido University Hospital in Hokkaido, Japan.

The researchers found that the same SNP, rs36498, was found in significantly more Brazilian individuals with a history of wheezing in the last 12 months or had a lifetime history of asthma than those without these characteristics. A different SNP, rs10409962, was found in higher numbers in the Japanese asthmatic volunteers compared to the healthy ones.

To see if either of these SNPs might be involved in other conditions that affect eosinophils, the researchers examined 166 Caucasians who each had a condition called eosinophilic esophagitis, an inflammatory condition that affects the walls of the esophagus, and 132 healthy Caucasian volunteers. Neither SNP appeared prominently in these populations. The results suggest that these SNPs affect asthma susceptibility, but not susceptibility to eosinophilic esophagitis.

"Our results suggest these mutations in the Siglec-8 gene may play a role in asthma. It's reasonable to assume that efforts to target Siglec-8 might be able to influence this disease and others associated with eosinophils," says Bochner. "If we're able to understand these mutations better, we might be able to use them to develop a diagnostic test or new treatment."

Source: Johns Hopkins Medical Institutions