Evolutionary genomic dynamics of Peruvians before, during, and after the Inca Empire

Harris, Daniel; Song, Wei; Shetty, Amol C.; Levano, Kelly S.; Cáceres, Omar; Padilla, Carlos; Borda, Víctor; Tarazona, David; Trujillo, Omar; Sánchez, César; Kessler, Michael; Galarza, Marco; Capristano, Silvia; Montejo, Harrison; Flores-Villanueva, Pedro O.; Tarazona‐Santos, Eduardo; O’Connor, Timothy D.; Guio, Heinner

doi:10.1073/pnas.1720798115

Cited by 131 publications

(180 citation statements)

References 88 publications

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“…2A, CO/MO cluster), also contained patients with high IA ancestry. This observation is in line with previously described IA population migration patterns and genetic admixture in Peru (38). A small number of individuals in the study were identified who had high proportion of Asian or African ancestry (>50%), each group accounting for approximately 0.5% of the patients.…”

Section: Distribution Of Genetic Ancestrysupporting

confidence: 90%

Human Epidermal Growth Factor Receptor 2–Positive Breast Cancer Is Associated with Indigenous American Ancestry in Latin American Women

et al. 2020

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Women of Latin American origin in the United States are more likely to be diagnosed with advanced breast cancer and have a higher risk of mortality than non-Hispanic White women. Studies in U.S. Latinas and Latin American women have reported a high incidence of HER2 positive (þ) tumors; however, the factors contributing to this observation are unknown. Genomewide genotype data for 1,312 patients from the Peruvian Genetics and Genomics of Breast Cancer Study (PEGEN-BC) were used to estimate genetic ancestry. We tested the association between HER2 status and genetic ancestry using logistic and multinomial logistic regression models. Findings were replicated in 616 samples from Mexico and Colombia. Average Indigenous American (IA) ancestry differed by subtype. In multivariate models, the odds of having an HER2 þ tumor increased by a factor of 1.20 with every 10% increase in IA ancestry proportion (95% CI, 1.07-1.35; P ¼ 0.001). The association between HER2 status and IA ancestry was independently replicated in samples from Mexico and Colombia. Results suggest that the high prevalence of HER2 þ tumors in Latinas could be due in part to the presence of population-specific genetic variant(s) affecting HER2 expression in breast cancer. Significance: The positive association between Indigenous American genetic ancestry and HER2 þ breast cancer suggests that the high incidence of HER2 þ subtypes in Latinas might be due to population and subtype-specific genetic risk variants.

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Section: Distribution Of Genetic Ancestrysupporting

confidence: 90%

Human Epidermal Growth Factor Receptor 2–Positive Breast Cancer Is Associated with Indigenous American Ancestry in Latin American Women

et al. 2020

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“…Genome-wide data from contemporary populations suggested a single expansion wave into South America with little gene flow between groups (4) [but see (36)]. By contrast, analysis of later Holocene genomes suggests that South Americans derived from one or more admixture events between two ancestral NA groups, possibly via multiple movements into South America (7).…”

Section: Multiple Dispersals Into South Americamentioning

confidence: 99%

Early human dispersals within the Americas

Moreno-Mayar

Vinner

Damgaard

et al. 2018

Science

257

297

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Studies of the peopling of the Americas have focused on the timing and number of initial migrations. Less attention has been paid to the subsequent spread of people within the Americas. We sequenced 15 ancient human genomes spanning from Alaska to Patagonia; six are ≥10,000 years old (up to ~18× coverage). All are most closely related to Native Americans, including those from an Ancient Beringian individual and two morphologically distinct “Paleoamericans.” We found evidence of rapid dispersal and early diversification that included previously unknown groups as people moved south. This resulted in multiple independent, geographically uneven migrations, including one that provides clues of a Late Pleistocene Australasian genetic signal, as well as a later Mesoamerican-related expansion. These led to complex and dynamic population histories from North to South America.

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“…A recent publication about GCK-MODY in the US National Monogenic Diabetes Registry, shows that the majority of Registry participants with a GCK-MODY phenotype selfidentified as Caucasian and there was underrepresentation of a number of ethnic minorities when compared to the greater US population and ethnicity-specific diabetes rates [5]. This is the first reported case in Perú, and in a Mestizo-Peruvian ethnic group, which consist in a population with Native-American and European ancestries [13]. Other countries in Latin America, such as Argentina and Chile, also have reported cases mainly associated with GCK-MODY, which seems to be frequent in our region [6,7,14].…”

Section: Discussionmentioning

confidence: 80%

Atypical hyperglycemia presentation suggests considering a diagnostic of other types of diabetes: first reported GCK-MODY in Perú

Lizarzaburu-Robles

Torre

Castro-Mujica

et al. 2020

Clin Diabetes Endocrinol

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Background: Prevalence of maturity-onset diabetes of the young (MODY) is estimated between 1 and 2% of all diabetes cases. In Latin-America little information has been described about the frequency of the disease, perhaps due to limited access to genetic studies. Case presentation: We present the case of a male patient with a history of two years of fatigue, mild hyperglycemia and intermittent polyuria, accompanied by a recent history of weight loss. He was diagnosed initially as type 2 diabetes, but in the follow-up as a patient with type 1 diabetes. He required relatively low doses of insulin and was evaluated in the endocrinology service at a hospital in Lima. The results of glucose, insulin and C-peptide in the oral glucose tolerance test (OGTT) performed were not consistent with a type 1 diabetes. Moreover, the age of the patient and the clinical characteristics did not strongly suggest a diagnosis of type 2 diabetes either. These clinical features had prompted us to carry out the genetic study. The genetic test performed with a genetic MODY panel through a massive sequencing. Heterozygous pathogenic for a variant in GCK gene was found c.629C>T p.(Thr210Met). His parents were negative for this variant after performed the genetic test. Conclusions: This is the first case of MODY for a pathogenic variant in the GCK gene reported in Perú. The genetic evaluation of a clinical suspicion of MODY is important to confirm the diagnosis and establish an adequate treatment in patients.

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Evolutionary genomic dynamics of Peruvians before, during, and after the Inca Empire

Cited by 131 publications

References 88 publications

Human Epidermal Growth Factor Receptor 2–Positive Breast Cancer Is Associated with Indigenous American Ancestry in Latin American Women

Human Epidermal Growth Factor Receptor 2–Positive Breast Cancer Is Associated with Indigenous American Ancestry in Latin American Women

Early human dispersals within the Americas

Atypical hyperglycemia presentation suggests considering a diagnostic of other types of diabetes: first reported GCK-MODY in Perú

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