RESUMEN
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.
Asunto(s)
Agricultura , Etnicidad/genética , Evolución Molecular , Lactasa/genética , Animales , Índice de Masa Corporal , Chile , Femenino , Fertilidad , Frecuencia de los Genes , Estudios de Asociación Genética , Cabras , Haplotipos , Humanos , Intolerancia a la Lactosa/genética , Masculino , Leche , Fenómenos Fisiológicos de la Nutrición , Fenotipo , Polimorfismo de Nucleótido SimpleRESUMEN
The genetic trait of lactase persistence (LP) is associated with at least five independent functional single nucleotide variants in a regulatory region about 14 kb upstream of the lactase gene [-13910*T (rs4988235), -13907*G (rs41525747), -13915*G (rs41380347), -14009*G (rs869051967) and -14010*C (rs145946881)]. These alleles have been inferred to have spread recently and present-day frequencies have been attributed to positive selection for the ability of adult humans to digest lactose without risk of symptoms of lactose intolerance. One of the inferential approaches used to estimate the level of past selection has been to determine the extent of haplotype homozygosity (EHH) of the sequence surrounding the SNP of interest. We report here new data on the frequencies of the known LP alleles in the 'Old World' and their haplotype lineages. We examine and confirm EHH of each of the LP alleles in relation to their distinct lineages, but also show marked EHH for one of the older haplotypes that does not carry any of the five LP alleles. The region of EHH of this (B) haplotype exactly coincides with a region of suppressed recombination that is detectable in families as well as in population data, and the results show how such suppression may have exaggerated haplotype-based measures of past selection.
Asunto(s)
Haplotipos , Lactasa/genética , Intolerancia a la Lactosa/genética , Polimorfismo de Nucleótido Simple , Recombinación Genética , Selección Genética , Adulto , Humanos , Intolerancia a la Lactosa/enzimología , FenotipoRESUMEN
OBJECTIVES: Lactase persistence (LP) is a genetic trait that has been studied among different countries and ethnic groups. In Latin America, the frequencies of this trait have been shown to vary according to the degree of admixture of the populations. The objective of this study is to better understand the relationship between this genetic trait and dairy intake in a multiethnic context through a synthesis of studies conducted in four regions of Chile. METHODS: Genotypes frequencies for the SNP LCT-13910C>T (rs4988235) and frequency of dairy consumption were obtained from four populations: Polynesians from Easter Island (Rapanui); Amerindians (Mapuche) and Mestizos from the Araucanía region; urban Mestizos from Santiago; and rural Mestizos from the Coquimbo region. Genetic differentiation and association between milk consumption and genotype frequencies were estimated. RESULTS: Genetic differentiation between Native and Mestizo populations was significant; the LP frequency in Mapuche and Rapanui was 10% and 25%, respectively, whereas among the Mestizos, LP frequency was near 40%. Dairy intake was below the nutritional recommendations for the four groups, and extremely below recommendations among the indigenous populations. Association between milk intake and LP was found in Santiago and Rapanui populations. CONCLUSIONS: Although the frequency of LP varies among the populations according to their degree of admixture, dairy consumption was very low across the populations. Given that the association between milk consumption and expected phenotype was found only in two of the populations analyzed, it seems that lactase non-persistence (LNP) is not the only cause for dairy avoidance. Thus, it is suggested that SES and cultural preferences are likely affecting dairy consumption.
Asunto(s)
Productos Lácteos , Ingestión de Alimentos , Etnicidad/genética , Frecuencia de los Genes , Genotipo , Lactasa/genética , Polimorfismo de Nucleótido Simple , Animales , Chile , Humanos , Lactasa/deficiencia , PolinesiaRESUMEN
The genetic trait of lactase persistence is attributable to allelic variants in an enhancer region upstream of the lactase gene, LCT. To date, five different functional alleles, -13910*T, -13907*G, -13915*G, -14009*G and -14010*C, have been identified. The co-occurrence of several of these alleles in Ethiopian lactose digesters leads to a pattern of sequence diversity characteristic of a 'soft selective sweep'. Here we hypothesise that throughout Africa, where multiple functional alleles co-exist, the enhancer diversity will be greater in groups who are traditional milk drinkers than in non-milk drinkers, as the result of this sort of parallel selection. Samples from 23 distinct groups from 10 different countries were examined. Each group was classified 'Yes 'or 'No' for milk-drinking, and ethnicity, language spoken and geographic location were recorded. Predicted lactase persistence frequency and enhancer diversity were, as hypothesised, higher in the milk drinkers than the non-milk-drinkers, but this was almost entirely accounted for by the Afro-Asiatic language speaking peoples of east Africa. The other groups, including the 'Nilo-Saharan language speaking' milk-drinkers, show lower frequencies of LP and lower diversity, and there was a north-east to south-west decline in overall diversity. Amongst the Afro-Asiatic (Cushitic) language speaking Oromo, however, the geographic cline was not evident and the southern pastoralist Borana showed much higher LP frequency and enhancer diversity than the other groups. Together these results reflect the effects of parallel selection, the stochastic processes of the occurrence and spread of the mutations, and time depth of milk drinking tradition.
Asunto(s)
Alelos , Frecuencia de los Genes , Lactasa/genética , Leche , Sitios de Carácter Cuantitativo , África , Animales , Femenino , Humanos , Lactasa/metabolismo , MasculinoRESUMEN
Migration research poses several unique challenges and opportunities. Conducting ethical global health practice, especially when studying migrant mental health, is of particular concern. This article explores seven challenges and lessons learned in our mixed-methods study conducted to assess the impact of the migration experience on Haitian migrants' mental health in Santiago, Chile. The primary challenges were recruiting in a highly mobile population, building trust and community participation, overcoming language barriers, safety considerations during the Covid-19 pandemic, mitigating potential negative impacts of research on the community, providing psychological support, and finding meaningful ways to benefit the community. We propose moving toward a better and more ethical migrant research practice by ensuring language accessibility, hiring community members for the study team, working with local institutions and nongovernmental organizations, and maintaining sustainable connections.
Asunto(s)
Salud Mental , Migrantes , Humanos , Chile , Haití , PandemiasRESUMEN
BACKGROUND: Despite its enormous health and social burden, there are limited published studies describing the epidemiology of violent deaths in Chile. We described violent mortality rate trends in Chile between 2001 and 2018, its current spatial distribution and ecological level correlates. METHODS: A population-based study using publicly accessible data. We calculated age-adjusted mortality rates per 100,000 persons for sex, age, intention, and mechanism of death. Next, we used linear regression to estimate time trends for sex and intention. We then employed hierarchical Poisson analyses to model the spatial distribution across 345 municipalities and the influence of six ecological level variables. RESULTS: The average rate of violent death in Chile between 2001 and 2018 was 15.9 per 100,000 people, with the majority (70.3%) of these attributed to suicide. Suffocation was the most common mechanism of death for suicide (82.3%) and cut/pierce for homicide (43.1%), followed by firearm (33.2%). Violent deaths are trending downward in Chile across all categories except suicides by women, which have remained stable. Poverty rates and urban population were positively associated with violent mortality rates. CONCLUSIONS: Although violence-related deaths seem to be decreasing, disparities across gender, age group, and geographic location may have continuing effects on mortality rates.