Abstract
Chitotriosidase (CHIT, EC 3.2.1.14) is an enzyme secreted by activated macrophages with the ability to hydrolyze the chitin of pathogens. The high activity of this enzyme has been used as a secondary biomarker of response to treatment in patients with Gaucher disease (OMIM 230800). Within the world’s population, approximately 6% is homozygous and 35% is heterozygous for the most common polymorphism in the CHIT1 gene, a 24-bp duplication (dup-24 bp), with homozygosity of this duplication causing inactivation of the enzyme but without major consequences for health. To determine the frequency of the dup-24 bp CHIT1 gene in indigenous populations from Mexico, 692 samples were analyzed: Purepecha (49), Tarahumara (97), Huichol (97), Mayan (139), Tenek (97), and Nahua (213). We found that the groups were in Hardy-Weinberg equilibrium. The dup-24 bp allele frequency was found to be (in order of highest to lowest) 37% (Mayan), 34% (Huichol and Nahua), 33% (Purepecha), 31% (Tenek), and 29% (Tarahumara).
Competing interests: None declared
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Communicated by: Daniela Karall
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Thiago Donizete Da Silva-José, Karina Janett Juárez-Rendón, Jesús Alejandro Juárez-Osuna, Angela Porras-Dorantes, Adán Valladares-Salgado, Miguel Cruz, Miriam Gonzalez-Ibarra, Ana G. Soto, María Teresa Magaña-Torres, Lucila Sandoval-Ramírez, and José Elías García-Ortiz declare that they have no conflict of interest.
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The authors state that this is an original article and has not been simultaneously presented to any other journal and thus is exclusive to Journal of Inherited Metabolic Disease.
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Thiago Donizete Da Silva-José participated in the study design, execution, data analysis, statistical analysis, manuscript drafting, and critical discussion. Karina Janett Juárez-Rendón participated in the study design, manuscript drafting, and critical discussion. Jesús Alejandro Juárez-Osuna and Angela Porras-Dorantes participated in the acquisition of data and study execution. Adán Valladares-Salgado, Miguel Cruz, Miriam Gonzalez-Ibarra, and Ana G. Soto participated in the acquisition of data and samples. María Teresa Magaña-Torres and Lucila Sandoval-Ramírez participated in the study design, data analysis, and critical discussion. José Elías García-Ortiz participated in the study design, execution, data analysis, statistical analysis, manuscript drafting, and critical discussion.
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All procedures were in accordance with ethical standards of the responsible committee on national human experimentation and with the Helsinki Declaration of 1975, as revised on 2000 and 2013. Written informed consent was obtained from all individuals for being included into the study.
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Da Silva-José, T.D. et al. (2015). Dup-24 bp in the CHIT1 Gene in Six Mexican Amerindian Populations. In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 23. JIMD Reports, vol 23. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_442
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DOI: https://doi.org/10.1007/8904_2015_442
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