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This Week in PLOS: May 23, 2016

In PLOS Genetics, a Finnish- and Swiss-led team turns to dog model systems to search for genes involved in three rare developmental syndromes affecting the skeletal system. Using genome-wide association studies in several susceptible dog breeds — including border collies and several terrier types — the researchers looked for variants involved in dental hypomineralization, craniomandibular osteopathy, and another skeletal syndrome. After further scrutinizing suspicious sites in canine cases with sequencing, they were left with candidate mutations in a handful of genes. Among them: a mutation in the SLC37A2 gene that coincided with canine craniomandibular osteopathy, the dog version of a condition called Caffey disease.

Researchers from Brazil and the US explore the potential relationship between Chagas disease outcomes and ancestry for a paper appearing in PLOS Neglected Tropical Diseases. The team teased apart African, European, and Native American ancestry tracts in the genomes of more than 1,300 Brazilian research participants, using patterns for hundreds of thousands of SNPs. In the almost 38 percent of the group who'd been infected with the Chagas disease-causing protozoan Trypanosoma cruzi, the investigators saw relatively high levels of African or Native American ancestry, though they caution that socioeconomic factors and exposure differences may contribute to this association. African and Native American ancestry did not show significant ties to Chagas disease-related heart complications such as cardiomyopathy.

An international team reporting in PLOS One describes a search for genetic variants contributing to central obesity in individuals with South Asian ancestry. The researchers used several approaches to search for variants influencing body mass index-adjusted waist-to-hip ratios, including GWAS on 10,300 South Asian individuals living in the UK. In parallel, they scrutinized protein-coding variant patterns in a more than 2,600 South Asian individuals and used SNP profiles for 12,240 South Asians to consider allele frequencies and effects sizes for dozens of variants previously implicated in European waist-to-hip ratios. The efforts did not unearth new, population-specific associations, though effect sizes for known risk alleles were muted in the South Asian individuals.