The Frequency of the <b><i>LCT</i></b>*<b><i>-13910C>T</i></b> Polymorphism Associated with Lactase Persistence Diverges among Euro-Descendant Groups from Brazil

Abstract

Objective: The aim of this study was to investigate the frequency of the LCT*-13910C>T polymorphism associated with a high expression of lactase in the small intestine during adulthood, and to infer the lactase persistence and adult-type hypolactasia phenotypes among Euro-Brazilians and Mennonites from South Brazil. Materials and Meth ods: A sequence-specific PCR method to genotype the LCT*-13910C>T polymorphism in 292 Euro-Brazilians and 151 Mennonites (a group with European ancestry and a long history of endogamy) was developed. Using an exact test of population differentiation, the genotype and allele frequency between these and other Brazilian populations were compared. Results: The frequency of -13910*T was significantly higher among the Mennonites when compared to the Euro-Brazilian cohort (0.63 vs. 0.33, p < 0.000001). Accordingly, Mennonites had a higher prevalence of the lactase persistence genotype (88.1 vs. 55.5%, p < 0.000001). The distribution of -13910*T differed between Mennonites and all other Brazilian groups (p < 0.0001). The Euro-Brazilians from Curitiba displayed differences when compared to all other Brazilian groups (p < 0.0001), even to Euro-Brazilians from a different geographic region (p = 0.0003), but were similar to those from Porto Alegre (p = 0.2). Conclusion: Differences in the -13910*T-associated lactase persistence distribution among Euro-Brazilian groups reflect the ancestry and admixture of each particular group and should be considered for adult-type hypolactasia screening.

Lack of Association between <b><i>LCT_rs140433552</i></b>*<b><i>CA&#x3e;del</i></b> Indel Polymorphism and Lactose Intolerance in a Southern Brazilian Population

“…This variation is strongly associated with LP in European populations. The sequence-specific primers and PCR-SSP conditions for this single nucleotide polymorphism were based on Boschmann et al [12].…”

The Second Highest Prevalence of Celiac Disease Worldwide: Genetic and Metabolic Insights in Southern Brazilian Mennonites

“…We performed a pilot study in January 2013 including 93 individuals from the Witmarsum Mennonite community that were previously enrolled in a genetic population study for lactose intolerance [20]. We found serologically positive anti-endomysial results in three individuals who unsuspected the disease (3.2%).…”

How the Past Shapes Current Stories: (Epi)genetic Epidemiological Profiles of Metabolic Syndrome in Brazilian Mennonites

“…Mennonites have the highest genetically-determined lactase persistence and natural resistance to HIV infection reported in Latin America 1 . Metabolic Syndrome (MS) is a cluster of cardiovascular risk factors, associated with the activity of the hypothalamic-pituitary-adrenal (HPA) axis, which depends on epigenetic alterations 2 .…”