Type 2 diabetes gene identified exclusive to the Latino population.

gene variant is one of the leading health conditions in the Latino population worldwide and the leading cause of death in Mexico. A collaborative study involving the Broad Institute of Harvard and MIT, Cambridge Massachusetts and the SIGMA Consortium, investigated the associated with .

sequencing took part involving DNA samples from 3,756 Mexican and U.S. Latino individuals (1,794 with and 1,962 people without diabetes), recruited over a ten year period form 1993-2013. One gene was further tested for and association with in large multi-ethnic data sets of 14,276 participants.

The results of the study linked a single gene variant (c.1522G>A [p.E508K]) of the HNF1A gene with a 5 fold higher of . In the multi-ethnic analysis this gene variant was only seen in the Latino population.

The researchers recommend further analysis and study citing that the effect size of the variant is the largest observed to date for any diabetes variant with a frequency more than 1 in 1,000.


Karol Estrada, Ingvild Aukrust, Lise Bjørkhaug, Noël P. Burtt, Josep M. Mercader, Humberto García-Ortiz, Alicia Huerta-Chagoya, Hortensia Moreno-Macías, Geoffrey Walford, Jason Flannick, Amy L. Williams, María J. Gómez-Vázquez, Juan C. Fernandez-Lopez, Angélica Martínez-Hernández, Federico Centeno-Cruz, Elvia Mendoza-Caamal, Cristina Revilla-Monsalve, Sergio Islas-Andrade, Emilio J. Córdova, Xavier Soberón, María E. González-Villalpando, E. Henderson, Lynne R. Wilkens, Loic Le Marchand, Olimpia Arellano-Campos, Maria L. Ordóñez-Sánchez, Maribel Rodríguez-Torres, Rosario Rodríguez-Guillén, Laura Riba, Laeya A. Najmi, Suzanne B.R. Jacobs, Timothy Fennell, Stacey Gabriel, Pierre Fontanillas, Craig L. Hanis, Donna M. Lehman, Christopher P. Jenkinson, Hanna E. Abboud, Graeme I. Bell, Maria L. Cortes, Michael Boehnke, Clicerio González-Villalpando, Lorena Orozco, Christopher A. Haiman, Teresa Tusié-Luna, Carlos A. Aguilar-Salinas, David Altshuler, Pål R. Njølstad, Jose C. Florez, Daniel G. MacArthur. Association of a Low-Frequency Variant inHNF1AWith in a Latino Population. JAMA, 2014; 311 (22): 2305 DOI: 10.1001/jama.2014.6511

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