Association of whole mtDNA, an NADPH G11914A variant, and haplogroups with high physical performance in an elite military troop

Physical performance is a multifactorial and complex trait influenced by environmental and hereditary factors. Environmental factors alone have been insufficient to characterize all outstanding phenotypes. Recent advances in genomic technologies have enabled the investigation of whole nuclear and mitochondrial genome sequences, increasing our ability to understand interindividual variability in physical performance. Our objective was to evaluate the association of mitochondrial polymorphic loci with physical performance in Brazilian elite military personnel. Eighty-eight male military personnel who participated in the Command Actions Course of the Army were selected. Total DNA was obtained from blood samples and a complete mitochondrial genome (mtDNA) was sequenced using Illumina MiSeq platform. Twenty-nine subjects completed the training program (FINISHED, 'F'), and fifty-nine failed to complete (NOT_FINISHED, 'NF'). The mtDNA from NF was slightly more similar to genomes from African countries frequently related to endurance level. Twenty-two distinct mtDNA haplogroups were identified corroborating the intense genetic admixture of the Brazilian population, but their distribution was similar between the two groups (FST=0.0009). Of 745 polymorphisms detected in the mtDNA, the position G11914A within the NADPH gene component of the electron transport chain, was statistically different between F and NF groups (P=0.011; OR: 4.286; 95%CI: 1.198-16.719), with a higher frequency of the G allele in group F individuals). The high performance of military personnel may be mediated by performance-related genomic traits. Thus, mitochondrial genetic markers such as the ND4 gene may play an important role on physical performance variability.

Association between mitochondrial haplogroups and neurocognitive disorder in HIV positive individuals / 中华流行病学杂志

Objective@#To investigate the distribution of mitochondrial haplogroups and their correlation with neurocognitive disorder (NCD) in HIV positive individuals.@*Methods@#Baseline data were from the prospective cohort study of comparative HIV and aging research in Taizhou of Zhejiang province from January to December, 2017. A cross-sectional survey was performed in 448 HIV positive individuals. Sanger method was used for the sequencing and genotyping of whole mitochondrial genome of HIV positive individuals. NCD prevalence in the HIV positive individuals was assessed by Mini-mental State Examination (MMSE) in questionnaire interviews. Multivariable logistic regression analysis was performed to assess the associations between mtDNA haplogroups and NCD.@*Results@#In this sample, mitochondrial haplogroups D (19.6%, 88/448), B (19.4%, 87/448) and F(17.0%, 76/448) were the most predominant haplogroups. The overall prevalence rate of NCD was 20.3% (91/448), and was high in haplogroups A (23.1%, 9/39), D (21.6%, 19/88), F (26.3%, 20/76) and M7 groups (26.1%, 12/46), respectively. In multivariable logistic regression analysis after adjusting confounding factors, such as age and gender, compared with haplogroup A, there were no differences in the prevalence rate of NCD among HIV positive individuals with haplogroup B, D, F, M7, M8, N9, and others.@*Conclusion@#The study explored primarily correlation between mitochondrial haplogroups and NCD among HIV positive individuals and suggested that there is no significant association between mitochondrial haplogroups and NCD, but further longitudinal investigation with large sample size of HIV positive population is needed to confirm this finding.

Mitochondrial DNA analysis suggests a Chibchan migration into Colombia / Análisis mitocondrial de ADN sugiere urna migración Chibcha a Colombia / Análise de DNA mitocondrial sugere urna migração Chibchan à Colômbia

The characterization of mitochondrial DNA (mtDNA) allows the establishment of genetic structures and phylogenetic relationships in human populations, tracing lineages far back in time. We analysed samples of mtDNA from twenty (20) Native American populations (700 individuals) dispersed throughout Colombian territory. Samples were collected during 1989-1993 in the context of the program Expedición Humana ("Human Expedition'') and stored in the Biological Repository of the Institute of Human Genetics (IGH) at the Pontificia Universidad Javeriana (Bogotá, Colombia). Haplogroups were determined by analysis of RFLPs. Most frequent was haplogroup A, with 338 individuals (48.3%). Haplogroup A is also one of the most frequent haplogroups in Mesoamerica, and we interpret our finding as supporting models that propose Chibchan-speaking groups migrated to northern Colombia from Mesoamerica in prehistoric times. Haplogroup C was found in 199 individuals (28.4%), while less frequent were B and D, with 113 and 41 (16% and 6%) individuals, respectively. The haplogroups of nine (9) individuals (1.3%) could not be determined due to the low quality of the samples of DNA. Although all the sampled populations had genetic structures that fit broadly into the patterns that might be expected for contemporary Central and South American indigenous groups, it was found that haplogroups A and B were more frequent in northern Colombia, while haplogroups C and D were more frequent in southern and south-western Colombia.

La caracterización del DNA mitocondrial (mtDNA) permite el estudio de estructuras genéticas y de relaciones filogenéticas en poblaciones humanas, al rastrear linajes hacia muy atrás en el tiempo. Analizamos muestras de mtDNA de veinte (20) poblaciones nativas americanas (700 individuos) dispersas por toda Colombia. Las muestras se obtuvieron entre 1989-1993 como parte del programa Expedición Humana y se almacenaron en el Banco Biológico del Instituto de Genética Humana (IGH) de la Pontifica Universidad Javeriana (Bogotá, Colombia). Los haplogrupos se determinaron mediante análisis de RFLPs. El más frecuente fue el haplogrupo A, con 338 individuos (48.3%). El haplogrupo A es también uno de los más frecuentes en Mesoamérica, y nosotros interpretamos nuestro hallazgo como una evidencia en favor de los modelos según los cuales los grupos que hablaban chibcha migraron al norte de Colombia desde Mesoamérica en tiempos prehistóricos. El haplogrupo C se encontró en 199 individuos (28.4%), mientras que los menos frecuentes fueron B y D con 113 y 41 individuos (16 y 6% respectivamente). No se pudieron determinar los haplogrupos de nueve (9) individuos (1.3%) debido a la baja calidad de las muestras de DNA. Aunque todas las poblaciones muestreadas tienen estructuras genéticas que se ajustan en líneas generales a los patrones que se podrían esperar para grupos indígenas contemporáneos de Centro y Suramérica, encontramos que los haplogrupos A y B eran más frecuentes en el norte de Colombia, mientras los haplogrupos C y D eran más frecuentes en el sur y suroccidente del país.

A caracterização de DNA mitocondrial (mtDNA) permite o estabelecimento de estruturas genéticas e relações filogenéticas em populações humanas, rastreando linhagens ao longo do tempo. Nós analisamos amostras de mtDNA de vinte (20) populações Nativas Americanas (700 individuos) distribuidas ao longo do territòrio colombiano. Amostras foram coletadas durante 1989-1993 dentro do contexto do programa Expedido Humana ("Expedición Humana") e armazenados no Repositório Biológico do Instituto de Genética Humana (IGH) da Pontificia Universidad Javeriana (Bogotá, Colombia). Haplogrupos foram determinados por análise do polimorfismo no comprimento de fragmentos de restrição (RFLPs). O haplogrupo mais frequente foi o haplogrupo A, com 338 individuos (48,3%). Esse haplogrupo também é um dos mais frequentes em Mesoamérica, e interpretamos nossos resultados como um modelo de suporte que propóe que grupos que falam Chibchan migraram ao Norte de Colombia a partir da Mesoamérica ainda em tempos pré-históricos. Halogrupo C foi encontrado em 199 individuos (28,4%), enquanto que os menos frequentes foram B e D, com 113 e 41 (16% e 6%) individuos, respectivamente. Os haplogrupos de nove (9) individuos (1,3%) nào puderam ser determinados devido à baixa qualidade das amostras de DNA. Embora todas as populações amostradas tinham estruturas genéticas que cabem amplamente nos padróes esperados para os grupos indigenas contemporáneos da América Central e do Sul, foi observado que os haplogrupos A e B foram mais frequente no Norte da Colombia, enquanto que os haplogrupos C e D foram mais frequentes no Sul e Sudoeste da Colombia.

Haplotype diversity of 17 Y-str loci in an admixed population from the Brazilian Amazon

The allelic and haplotype frequencies of 17 Y-STR loci most commonly used in forensic testing were estimated in a sample of 138 unrelated healthy males from Macapá, in the northern Amazon region of Brazil. The average gene diversity was 0.6554 ± 0.3315. 134 haplotypes of the 17 loci were observed, 130 of them unique and four present in two individuals each. The haplotype diversity index was 0.9996 + 0.0009, with the most frequent haplogroups being R1b (52.2 percent), E1b1b (11.6 percent), J2 (10.1 percent) and Q (7.2 percent). Most haplogroups of this population belonged to European male lineages (89.2 percent), followed by Amerindian (7.2 percent) and African (3.6 percent) lineages.

Asociación de niveles de lípidos y haplogrupos Amerindios de DNA mitocondrial en individuos chilenos hipercolesterolémicos tratados con atorvastatina / Association of serum lipid levels and mitochondrial DNA Amerindian haplogroups in hypercholesterolemic subjects receiving atorvastatin

Resumen: Introducción: La respuesta terapéutica a estatuías se ve influenciada por factores como la edad, género y etnicidad. Con respecto a esto, el background genético de la población chilena es predominantemente Amerindio, definido por la presencia de haplogrupos Amerindios A, B, C y D de DNA mitocondrial (mtDNA). Así, el objetivo del estudio fue evaluar la potencial asociación entre la presencia de haplogrupos Amerindios de mtDNA y niveles de lípidos en individuos chilenos hipercolesterolémicos tratados con Atorvastatina. Métodos: Un total de 42 individuos en dos centros de salud del sur de Chile fueron incluidos en el estudio. En el grupo de pacientes se evaluó la presencia de haplogrupos Amerindios de mtDNA por PCR-RFLP, además de la cuantificación de Colesterol Total, Triglicéridos, Colesterol-HDL y Colesterol-LDL, antes y después del tratamiento con Atorvastatina (10 mg/día). Resultados: El 88.1 por ciento de los sujetos presentó algún haplogrupo Amerindio, no observándose diferencias en los niveles de lípidos pre- tratamiento de acuerdo al haplogrupo. Interesantemente, individuos de haplogrupo B presentaron niveles mayores de Colesterol Total (B: 254 +/- 30 mg/dl v/s C: 213 +/- 48 mg/dl, D: 230 +/- 50 mg/dl; p= 0.0319) y Colesterol-LDL (B: 157 +/- 34 mg/dl v/s C: 118 +/- 45 mg/dl, D: 135 +/- 42 mg/dl; p=0.0344) post-tratamiento. Conclusiones: El haplogrupo B se asocia a niveles mayores de lípidos post-tratamiento en pacientes tratados con Atorvastatina. Estos hallazgos sugieren por primera vez, que la presencia de haplogrupo B de mtDNA determinaría una menor respuesta al tratamiento con Atorvastatina en individuos chilenos con background genético amerindio.

Background: Therapeutic response to statins is influenced by age, gender and ethnicity. The genetic background of the Chilean population is predominantly Amerindian, defined by the presence of mitochondrial DNA (mtDNA) Amerindian haplogroups A, B, C and D Amerindian haplogroups and serum lipid levéis in hypercholesterolemic Chilean subjects receiving atorvastatin Methods: 42 subjects from southern Chile were included. The presence of mtDNA Amerindian haplogroups was evaluated by PCR-RFLP; in addition, total cholesterol, triglycerides, HDL-cholesterol and LDL-cholesterol were measured before and after treatment with atorvastatin 10 mg/day. Aim: to evaluate a possible association of mtDNA. Ameridian haplogroups and serum lipid levels in hypercholesterolemic Chilean subjects receiving atorvastatin. Result: 88.1 percent of subjects exhibited some Amerindian haplogroup. No relation of lipid levels with haplogroups was observed before treatment. Interestingly, haplogroup B individuals had higher levels of total cholesterol compared to other haplogroups after treatment (haplogroup B : 254 +/- 30 mg/dl; C : 213 +/- 48 mg/dl; D : 230 +/- 50 mg/dl, p=0.0319). Corresponding levels for LDL-cholesterol after treatment in the three groups were 157 +/- 34,118 +/-45 and 135 +/-42 mg/ di, respectively, p=0.0344. Conclusion: Compared to other haplogroups, haplogroup B is associated to higher levels of lipids after treatment with atorvastatin. For the first time, these findings suggest that the presence of mtDNA haplogroup B determines a dimished response to atorvastatin in Chilean subjets with an Amerindian genetic background.

Diversidad mitooondrial en el nor-occidente de enezuela. implicaciones para prrobables rutas migratorias prehispániass / Mitochondrial diversity in Northwest Venezuela. Implications for probable prehispanic migratory routes.

La utilidad del ADN mitocondrial (ADNmt) para determinar afinidad genética entre grupos indígenas contemporáneos e inferir sobre migraciones, ha sido demostrada; pero la imposibilidad de estudiar grupos prehispánicos extintos, limita las inferencias sobre migraciones en esa época. El mestizaje en poblaciones neoamericanas ha sido caracterizado por uniones entre hombres europeos y mujeres indígenas, permitiendo detectar en la población contemporánea haplogrupos mitocondriales amerindios que informan sobre poblaciones extintas. Para conocer los linajes femeninos en el occidente de Venezuela, se estudiaron los haplogrupos del ADNmt a partir de RFLP, en una muestra de 193 individuos con antepasados procedentes del occidente de Venezuela, 81 del Estado Lara (Barquisimeto) y 112 de tres pueblos del Estado Falcón (Macu-quita=25, Macanillas=29 y Churuguara=58). Se comparó la distribución de haplogrupos entre las poblaciones y se estimó el mestizaje por línea femenina en ellas. Se comparó la distribución de cuatro haplogrupos indígenas con otras regiones de América. Se observa que en las cuatro poblaciones predominan haplogrupos amerindios, seguidos de los africanos. Al comparar la fracción indígena con el resto de América encontramos que Macanillas, Lara y Churuguara se asemejan a grupos de Amazonas y Suramérica, mientras que Macuquita a Aruba. Esto sugiere una diversidad genética importante en esa zona como probable ruta de paso hacia el sur y el Caribe; además refleja vínculos genéticos importantes entre grupos prehispánicos de Aruba y los de la Península de Paraguaná. Evidencias arqueológicas soportan estos postulados. Se recomienda aumentar la muestra y realizar análisis de secuencias para un nivel mayor de precisión.

Mitocondrial DNA (mtDNA) has been widely used to study genetic relationships between contemporary Amerindian groups and to infer ancestral migration movements; however inferences about migration routes of prehispanic extinct groups are difficult. Admixture of Neoamerican groups has been characterized by unions between European males and Amerindian females. This allows the identification in present populations of Amerindian mitocondrial haplogroups which give information on ancestral groups. In order to investigate female lineages present in western Venezuela, RFLP haplogroups from mtDNA were obtained from 193 individuals with grandparents from this region, 81 from the State of Lara (Barquisimeto) and 112 from 3 towns of the State of Falcon (Macuquita=25; Macanilla=29 and Churuguara=58). Comparison of haplogroup distributions between groups was performed, and admixture estimates based on female lineages were obtained. The distribution of four Amerindian haplogroups was compared with those of other populations from the American Continent. In our four samples Amerindian haplogroups predominate, followed by those of African origin. In the comparison of the mtDNA Amerindian fraction with other populations we find that Macanillas, Lara and Churuguara are similar to South American and Amazonian groups whilst Macuquita is similar to groups from Aruba. Our findings suggest an important genetic diversity in this region, explained by migration routes to and from the south and the Caribean. They also suggest genetic relationship between prehispanic groups from Aruba and those from the Paraguaná peninsula, which have been inferred by archeological evidences. An increase in sample size and analysis of sequences for more precision is recommended.