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DOI | 10.1111/AHG.12277 | ||||
Año | 2019 | ||||
Tipo | artículo de investigación |
Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
The genetic trait of lactase persistence (LP) evolved as an adaptation to milking pastoralism in the Old World and is a well-known example of positive natural selection in humans. However, the specific mechanisms conferring this selective advantage are unknown. To understand the relationship between milk drinking, LP, growth, reproduction, and survival, communities of the Coquimbo Region in Chile, with recent adoption of milking agropastoralism, were used as a model population. DNA samples and data on stature, reproduction, and diet were collected from 451 participants. Lactose tolerance tests were done on 41 of them. The European -13,910*T (rs4988235) was the only LP causative variant found, showing strong association (99.6%) with LP phenotype. Models of associations of inferred LP status and milk consumption, with fertility, mortality, height, and weight were adjusted with measures of ancestry and relatedness to control for population structure. Although we found no statistically significant effect of LP on fertility, a significant effect (P = 0.002) was observed of LP on body mass index (BMI) in males and of BMI on fertility (P = 0.003). These results fail to support a causal relationship between LP and fertility yet suggest the idea of a nutritional advantage of LP. Furthermore, the proportion of European ancestry around the genetic region of -13,910*T is significantly higher (P = 0.008) than the proportion of European ancestry genome-wide, providing evidence of recent positive selection since European-Amerindian admixture. This signature was absent in nonpastoralist Latin American populations, supporting the hypothesis of specific adaptation to milking agropastoralism in the Coquimbo communities.
Ord. | Autor | Género | Institución - País |
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1 | Montalva, Nicolas | Hombre |
UCL - Reino Unido
Universidad de Tarapacá - Chile Universidad Mayor - Chile University College London - Reino Unido |
2 | Adhikari, Kaustubh | - |
UCL - Reino Unido
University College London - Reino Unido |
3 | Liebert, Anke | Mujer |
UCL - Reino Unido
University College London - Reino Unido |
4 | Mendoza-Revilla, Javier | Hombre |
UCL - Reino Unido
UNIV PERUANA CAYETANO HEREDIA - Perú INST PASTEUR - Francia Universidad Peruana Cayetano Heredia - Perú University College London - Reino Unido |
5 | Flores, Sergio | Hombre |
Universidad de Chile - Chile
|
6 | Mace, Ruth | Mujer |
UCL - Reino Unido
Lanzhou Univ - China University College London - Reino Unido |
7 | Swallow, Dallas M. | Hombre |
UCL - Reino Unido
University College London - Reino Unido |
Fuente |
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Chilean National Commission for Scientific and Technological Research |
Comisión Nacional de Investigación Científica y Tecnológica |
Wellcome Trust |
Comisión Nacional de Investigación CientÃfica y Tecnológica |
Wellcome |
Seventh Framework Programme |
University College London |
H2020 Marie Skłodowska-Curie Actions |
Marie Curie |
UCL Global Engagement Fund |
Gen Foundation |
EU Marie Curie ITN FP7 Framework Programme grant, LeCHE |
UCL Grand Challenge of Global Health |
Bicentennial Becas-Chile Scholarship for the Advanced Human Capital Program by the Chilean National Commission for Scientific and Technological Research (CONICYT) |
Annals of Human Genetics |
Parkes Foundation |
EU Marie Curie ITN FP7 Framework Programme |
Bicentennial Becas–Chile Scholarship for the Advanced Human Capital Program |
KA |
FP7 Framework Programme |
LeCHE |
Agradecimiento |
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We thank Mari Wyn Burley and Fraser Simpson for assistance with sequencing and the use of the ABI DNA Analyzer and Bryony Jones, Nik Maniatis, Andres Ruiz-Linares, and many other members of GEE and HEEG for help and advice, and we are very grateful to all sample collectors and sample donors. This work was supported by Bicentennial Becas-Chile Scholarship for the Advanced Human Capital Program by the Chilean National Commission for Scientific and Technological Research (CONICYT), The Gen Foundation, Parkes Foundation (NM), UCL Grand Challenge of Global Health (NM, RM, DS), EU Marie Curie ITN FP7 Framework Programme grant, LeCHE, grant (ref 215362-2008 to AL and DS), the Annals of Human Genetics (NM, AL) and UCL Global Engagement fund (KA). KA was funded by Wellcome Investigator Award WT107055AIA (to Prof. C.D. Stern). |
We thank Mari Wyn Burley and Fraser Simpson for assistance with sequencing and the use of the ABI DNA Analyzer and Bryony Jones, Nik Maniatis, Andres Ruiz-Linares, and many other members of GEE and HEEG for help and advice, and we are very grateful to all sample collectors and sample donors. This work was supported by Bicentennial Becas?Chile Scholarship for the Advanced Human Capital Program by the Chilean National Commission for Scientific and Technological Research (CONICYT), The Gen Foundation, Parkes Foundation (NM), UCL Grand Challenge of Global Health (NM, RM, DS), EU Marie Curie ITN FP7 Framework Programme grant, LeCHE, grant (ref 215362-2008 to AL and DS), the Annals of Human Genetics (NM, AL) and UCL Global Engagement fund (KA). KA was funded by Wellcome Investigator Award WT107055AIA (to Prof. C.D. Stern). The authors have no conflict of interest to declare. All aspects of the study were performed in accordance with the ethical standards for research involving human participants required in the UK and Chile. Ethical approval was obtained both in Chile (University of Chile, Social Sciences Research Ethics Committee CEDEA, reference number 078/2010) and the United Kingdom (UCL Research Ethics Committee, reference number 2967/001 and UCLH 01/0236) and in agreement with the 1964 Helsinki declaration and its later amendments. Informed consent was obtained from all individual interviewed and sample donors included in the study. NM: conceptualization of the project; NM, RM, and DS: project design; NM: data collection and fieldwork; SF: help with local permits and initial analyses; AL: analyses of haplotypes; NM, AL, and DS: laboratory procedures; NM, KA, and JMR: statistics and analyses of ancestry; and NM, KA, and DS: preparation of the manuscript. All authors read and approved the manuscript. |