1. A missense variant of hepatocyte nuclear factor 1-alpha (HNF1A) gene was associated with an increased prevalence of type 2 diabetes in Latino populations.
2 .Compared to non-carriers, carriers of this missense variant did not demonstrate an earlier age of onset of type 2 diabetes.
Evidence Rating Level: 2 (Good)
Study Rundown: Type 2 diabetes is a condition in which the body does not react properly to insulin being secreted by the β cells of the pancreas. This results in elevated blood glucose levels and usually manifests as increased appetite, weight loss, loss of sensation in the extremities, and ultimately death. Diet and weight are two of the largest risk factors for this form of diabetes. However, certain genetic markers and race have also been shown to play a part in diabetes risk. Currently, Mexican-American adults demonstrate a type 2 diabetes prevalence of 10% while Caucasian Americans demonstrate a prevalence of 5.2%. The goal of this study was to identify protein-coding genetic variants associated with diabetes in the Latino-American population.
The authors of this study were able to detect a genetic variant in the MODY3 (maturity onset diabetes of the young type 3)-causing gene HNF1A (hepatocyte nuclear factor 1- alpha) that was associated with the incidence of type 2 diabetes in the Latino community. While this is the largest study of its kind thus far, the sample size was still not sufficient for the detection of gene-variants at frequencies lower than 1%. The implications of this study are nevertheless far-reaching; With further research, clinicians may eventually be capable of making an earlier diagnosis of type 2 diabetes, thereby allowing for earlier patient education on lifestyle and risk factor modification, as well as earlier treatment initiation.
Click to read the study in JAMA
Relevant Reading: Prevalence and distribution of type 2 diabetes mellitus in Mexican adult population
In-Depth [cross-sectional study]: 3756 Mexican and US Latino participants (1794 with type 2 diabetes and 1962 without) were recruited from 1993 until 2013. Ancestry was determined based on self-report and confirmed using genotype data. Those diagnosed with type 2 diabetes met the criteria for diagnosis set forth by the American Diabetes Association. Whole genome sequencing was performed on study participants. A single missense mutation, p.E508K, was noted to occur in association with type 2 diabetes (odds ratio, 5.45; 95%CI, 2.83-10.61). No difference in the mean age of diabetes onset for variant carriers versus non-carriers was observed (45.3 years versus 47.5 years, P=.49).
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