(HealthDay News) — A rare protein-coding genetic variant is associated with type 2 diabetes in Latino populations, according to research published in the June 11 issue of the Journal of the American Medical Association, a theme issue on diabetes.

Karol Estrada, PhD, of the Broad Institute of Harvard and MIT in Cambridge, MA, and colleagues performed whole-exome sequencing on DNA samples from 3,756 Mexican and U.S. Latino individuals (1,794 with type 2 diabetes; 1,962 without diabetes). The researchers tested one genetic variant for allele frequency and association with type 2 diabetes.

The researchers found a single rare missense variant (p.E508K) located in the gene responsible for maturity-onset diabetes of the young type 3. This variant, which was observed only in Latino patients (1,443 with type 2 diabetes and 1,673 without diabetes), was associated with type 2 diabetes (odds ratio [OR], 4.16; 95% confidence interval [CI], 1.75–9.92; P=0.0013). The data showed that carriers and noncarriers of the p.E508K mutation with type 2 diabetes did not differ in clinical characteristics, including age at onset (mean [standard deviation] age: 45.3 [11.2] years vs. 47.5 [11.5] years; P=0.49; mean [standard deviation] BMI: 28.2 [5.5] vs. 29.3 [5.3]kg/m²; P=0.19).

“Using whole-exome sequencing, we identified a single low-frequency variant in the MODY3-causing gene HNF1A that is associated with type 2 diabetes in Latino populations and may affect protein function,” the authors write.

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