The Chilean socio-ethno-genomic cline

Barozet, Émmanuelle; Valenzuela, Carlos Y; Cifuentes, L; Verdugo, Ricardo A.; Herrera, Luisa; Acuña, M; Llop, Elena; Moraga, Mauricio; Berríos, Soledad; Génova, Alex Di; Digman, D.; Symon, Adriana; Asenjo, S.; López, Patricia; Bustamante, M. Leonor; Pezo, Patricio; Suazo, José; Caba, F; Villalón, M. Sofía; Alvarado, Sergio; Cáceres, Dante; Salgado, Katherine; Portales, P.; Loira, Nicolás

doi:10.1080/19485565.2021.1879626

Cited by 12 publications

(11 citation statements)

References 20 publications

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“…Amerindian ancestry is related to the Aymara and Mapuche ethnic groups and proportions depends on latitude [ 5 ]. Further, the population is structured in a way that has preserved a socio-economic cline associated with ancestry [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

The Association between Fasting Glucose and Sugar Sweetened Beverages Intake Is Greater in Latin Americans with a High Polygenic Risk Score for Type 2 Diabetes Mellitus

et al. 2021

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Chile has the highest per capita intake of sugar-sweetened beverages (SSB) world-wide. However, it is unknown whether the effects from this highly industrialized food will mimic those reported in industrialized countries or whether they will be modified by local lifestyle or population genetics. Our goal was to evaluate the association between SSB intake and fasting glucose in the Chilean population. We calculated a weighted genetic risk score (GRSw) based on 16 T2D risk SNPs in 2828 non-diabetic participants of the MAUCO cohort. SSB intake was categorized in four levels using a food frequency questionnaire. Log-fasting glucose was regressed on SSB and GRSw tertiles while accounting for socio-demography, lifestyle, obesity, and Amerindian ancestry. Fasting glucose increased systematically per unit of GRSw (β = 0.02 ± 0.006, p = 0.00002) and by SSB intake (β[cat4] = 0.04 ± 0.009, p = 0.0001), showing a significant interaction, where the strongest effect was observed in the highest GRSw-tertile and in the highest SSB consumption category (β = 0.05 ± 0.02, p = 0.02). SNP-wise, SSB interacted with additive effects of rs7903146 (TCF7L2) (β = 0.05 ± 0.01, p = 0.002) and with the G/G genotype of rs10830963 (MTNRB1B) (β = 0.19 ± 0.05, p = 0.001). Conclusions: The association between SSB intake and fasting glucose in the Chilean population without diabetes is modified by T2D genetic susceptibility.

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Section: Introductionmentioning

confidence: 99%

The Association between Fasting Glucose and Sugar Sweetened Beverages Intake Is Greater in Latin Americans with a High Polygenic Risk Score for Type 2 Diabetes Mellitus

et al. 2021

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“…Según los datos presentados en la tabla, más del 80% de los pacientes incluidos en el estudio tenían más de 70 años y un 86% para casos mapuchehuilliche. Esto puede verse influenciado debido al nivel socioeconómico más vulnerable que presenta la población mapuche-huilliche (21) . Aun así, estos hallazgos indican que el GPEX se presenta a una edad más avanzada en comparación con el glaucoma típico, el cual suele manifestarse en etapas más tempranas de la vida.…”

Section: Discussionunclassified

“…Es importante destacar que los pacientes incluidos en este estudio pertenecían principalmente a las comunas de Cerro Navia e Independencia. Llama la atención que el porcentaje de pacientes con apellidos de ascendencia mapuche-huilliche que presentaron glaucoma pseudoexfoliativo (15,8%) sea mayor que el porcentaje de población mapuchehuilliche en las regiones de Cerro Navia e Independencia (14 y 5% respectivamente) (21,22) . Además, al comparar el número de casos de pacientes GPEX con ascendencia mapuche-huilliche con el número de casos de pacientes GPAA y no PEX con ascendencia mapuche-huilliche, se encontró que la ascendencia mapuche-huilliche está asociada a GPEX (test exacto de Fisher p = 0.007).…”

Section: Discussionunclassified

Caracterización clínica de pacientes con pseudoexfoliación en estudio multicéntrico y asociación a ancestría mapuche-huilliche

Romero C.,

Mena A.,

Olguín O.

et al. 2023

Rev. Hosp. Clín. Univ. Chile (En línea)

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Introduction: Pseudoexfoliation Syndrome (PEX) is a multisystemic disease. It is the most common cause of secondary glaucoma, which has a faster progression and worse prognosis. Objective: Description of epidemiological and ophthalmological clinical characteristics in patients with PEX at Universidad de Chile Clinical Hospital, San José Hospital, and Félix Bulnes Hospital. Methods: Multicenter descriptive study. Clinical records of patients with pseudoexfoliation glaucoma from the past 5 years were reviewed in 3 centers located in the Metropolitan Region. Epidemiological, clinical, treatment, and documented complication characteristics were analyzed. Furthermore, to analize a possible association between pseudoexfoliation glaucoma and Mapuche-Huilliche ethnicity we used a control group that included patients with primary open-angle glaucoma and no PEX. Results: Of 190 eyes from 95 patients, 172 with PEX-related glaucoma (GPEX) were included in the study, 56 were males and 39 females, with an average age of 76,7 years (range 58-92 years). 34,% had a family history of glaucoma. 15,8% (15 patients) had at least one surname of Mapuche origin and 11,6% had two last names. An association was found between the Mapuche-Huilliche ethnicity and the diagnosis of GPEX compared to the control group (Fisher’s exact test p = 0.007). In the 172 analyzed eyes, the average intraocular pressure was 17,9 (range 7-52). 92 eyes had a visual acuity (VA) <0.05, of which 29,9% had no light perception, and 80 eyes had VA ≥0.05. The average cup-to-disc ratio was 0.76. Mixed cataract was the predominant type, accounting for 56,8% of the total of cataracts, and 19,8% had hypermature/mature cataract. 24 eyes in the total sample had ocular complications, with central retinal vein thrombosis being the most common (5,2%), followed by phacodonesis or lens subluxation (3,5%). The modal number of medications used was 2, and in terms of surgical management 10,5% underwent trabeculectomy, 1,7% received drainage implant, and 23,3% had selective laser trabeculoplasty. Conclusion: PEX-related glaucoma in the studied population is a disease that occurs at an older age, leading to severe visual impairment due to the severity of glaucoma. Our findings indicate an association of GPEX and Mapuche-Huilliche ethnicity. Lastly, the importance of early diagnosis and treatment of this condition is emphasized given its high rate of blindness and complications in the studied sample.

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“…Based on their income and occupation, all individuals belonged either to the C2, C3, D, or E socioeconomic stratum. The average Amerindian ancestry estimates for these strata range from 44.81% to 51.61% ( Barozet et al, 2021 )…”

Section: Methodsmentioning

confidence: 99%

Polymorphisms in Schizophrenia-Related Genes Are Potential Predictors of Antipsychotic Treatment Resistance and Refractoriness

Zazueta

Castillo

Cavieres

et al. 2022

International Journal of Neuropsychopharmacology

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Background Approximately 30% of individuals with schizophrenia (SZ) are resistant to conventional antipsychotic drug therapy (AP). Of these, one third are also resistant to the second-line treatment, clozapine. Treatment resistance and refractoriness are associated with increased morbidity and disability, making timely detection of these issues critical. Variability in treatment responsiveness is partly genetic, but research has yet to identify variants suitable for personalizing antipsychotic prescriptions. Methods We evaluated potential associations between response to AP and candidate gene variants previously linked to schizophrenia or treatment response. Two groups of patients with SZ were evaluated; one receiving clozapine (n=135) and the other receiving another second-generation AP (n=61). Single-nucleotide polymorphisms (SNPs) in the genes OXT, OXTR, CNR1, DDC, and DRD2 were analyzed. Results Several SNPs were associated with response vs. resistance to AP or clozapine. Conclusions This is the first study of its kind in our admixed Chilean population to address the complete treatment response spectrum. We identified SNPs predictive of treatment-resistant schizophrenia in the genes OXT, CNR1, DDC, and DRD2.

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The Chilean socio-ethno-genomic cline

Cited by 12 publications

References 20 publications

The Association between Fasting Glucose and Sugar Sweetened Beverages Intake Is Greater in Latin Americans with a High Polygenic Risk Score for Type 2 Diabetes Mellitus

The Association between Fasting Glucose and Sugar Sweetened Beverages Intake Is Greater in Latin Americans with a High Polygenic Risk Score for Type 2 Diabetes Mellitus

Caracterización clínica de pacientes con pseudoexfoliación en estudio multicéntrico y asociación a ancestría mapuche-huilliche

Polymorphisms in Schizophrenia-Related Genes Are Potential Predictors of Antipsychotic Treatment Resistance and Refractoriness

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