Dataset Information

Identification of Polynesian mtDNA haplogroups in remains of Botocudo Amerindians from Brazil.

ABSTRACT: There is a consensus that modern humans arrived in the Americas 15,000-20,000 y ago during the Late Pleistocene, most probably from northeast Asia through Beringia. However, there is still debate about the time of entry and number of migratory waves, including apparent inconsistencies between genetic and morphological data on Paleoamericans. Here we report the identification of mitochondrial sequences belonging to haplogroups characteristic of Polynesians in DNA extracted from ancient skulls of the now extinct Botocudo Indians from Brazil. The identification of these two Polynesian haplogroups was confirmed in independent replications in Brazil and Denmark, ensuring reliability of the data. Parallel analysis of 12 other Botocudo individuals yielded only the well-known Amerindian mtDNA haplogroup C1. Potential scenarios to try to help understand these results are presented and discussed. The findings of this study may be relevant for the understanding of the pre-Columbian and/or post-Columbian peopling of the Americas.

SUBMITTER: Goncalves VF

PROVIDER: S-EPMC3631640 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature

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Identification of Polynesian mtDNA haplogroups in remains of Botocudo Amerindians from Brazil.

Gonçalves Vanessa Faria VF Stenderup Jesper J Rodrigues-Carvalho Cláudia C Silva Hilton P HP Gonçalves-Dornelas Higgor H Líryo Andersen A Kivisild Toomas T Malaspinas Anna-Sapfo AS Campos Paula F PF Rasmussen Morten M Willerslev Eske E Pena Sergio Danilo J SD

Proceedings of the National Academy of Sciences of the United States of America 20130401 16

There is a consensus that modern humans arrived in the Americas 15,000-20,000 y ago during the Late Pleistocene, most probably from northeast Asia through Beringia. However, there is still debate about the time of entry and number of migratory waves, including apparent inconsistencies between genetic and morphological data on Paleoamericans. Here we report the identification of mitochondrial sequences belonging to haplogroups characteristic of Polynesians in DNA extracted from ancient skulls of ...[more]

PMID: 23576724

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Project description:BACKGROUND: Osteoarthritis (OA) is the most common form of arthritis and has become an increasingly important public-health problem. However, the pathogenesis of OA is still unclear. In recent years, its correlation with mtDNA haplogroups attracts much attention. We aimed to perform a meta-analysis to investigate the association between mtDNA haplogroups and OA. METHODS: Published English or Chinese literature from PubMed, Web of Science, SDOS, and CNKI was retrieved up until April 15, 2014. Case-control or cohort studies that detected the frequency of mtDNA haplogroups in OA patients and controls were included. The quality of the included studies was evaluated by the Newcastle-Ottawa Scale (NOS) assessment. A meta-analysis was conducted to calculate pooled odds ratio (OR) with 95% confidence interval (CI) through the random or fixed effect model, which was selected based on the between-study heterogeneity assessed by Q test and I2 test. Subgroup analysis was performed to explore the origin of heterogeneity. RESULTS: A total of 6 case-control studies (10590 cases and 7161 controls) with an average NOS score of 6.9 were involved. For the analysis between mtDNA haplogroup J and OA, random model was selected due to high heterogeneity. No significant association was found initially (OR?=?0.73, 95%CI: 0.52-1.03), however, once any study from UK population was removed the association emerged. Further subgroup analysis demonstrated that there was a significant association in Spain population (OR?=?0.57, 95%CI: 0.46-0.71), but not in UK population. Also, subgroup analysis revealed that there was a significant correlation between cluster TJ and OA in Spain population (OR?=?0.70, 95%CI: 0.58-0.84), although not in UK population. No significant correlation was found between haplogroup T/cluster HV/cluster KU and OA. CONCLUSIONS: Our current meta-analysis suggests that mtDNA haplogroup J and cluster TJ correlate with the risk of OA in Spanish population, but the associations in other populations require further investigation.

Project description:To evaluate the influence of the mtDNA haplogroups on knee osteoarthritis progression in Osteoarthritis Initiative (OAI) participants through longitudinal data from radiographs and magnetic resonance imaging (MRI).Four-year knee osteoarthritis progression was analyzed as increase in Kellgren and Lawrence (KL) grade, in addition to increase in OARSI atlas grade for joint space narrowing (JSN), osteophytes and subchondral sclerosis in the tibia medial compartment of 891 Caucasian individuals from the progression subcohort. The influence of the haplogroups on the rate of structural progression was also assessed as the four-year change in minimum joint space width (mJSW in millimetres) in both knees of (n?=?216) patients with baseline unilateral medial-tibiofemoral JSN. Quantitative cartilage measures from longitudinal MRI data were those related to cartilage thickness and volume with a 24 month follow-up period (n?=?381).During the four-year follow-up period, knee OA patients with the haplogroup T showed the lowest increase in KL grade (Hazard Risk [HR]?=?0.499; 95% Confidence Interval [CI]: 0.261-0.819; p<0.05) as well as the lowest cumulative probability of progression for JSN (HR?=?0.547; 95% CI: 0.280-0.900; p<0.05), osteophytes (HR?=?0.573; 95% CI: 0.304-0.893; p<0.05) and subchondral sclerosis (HR?=?0.549; 95% CI: 0.295-0.884; p<0.05). They also showed the lowest decline in mJSW (standardized response means (SRM)?=?-0.39; p?=?0.037) in those knees without baseline medial JSN (no-JSN knees). Normalized cartilage volume loss was significantly lower in patients carrying the haplogroup T at medial tibia femoral (SRM?=?-0.33; p?=?0.023) and central medial femoral (SRM?=?-0.27; p?=?0.031) compartments. Cartilage thickness loss was significantly lower in carriers of haplogroup T at central medial tibia-femoral (SRM?=?-0.42; p?=?0.011), medial tibia femoral (SRM?=?-0.32; p?=?0.018), medial tibia anterior (SRM?=?+0.31; p?=?0.013) and central medial femoral (SRM?=?-0.19; p?=?0.013) compartments.Mitochondrial genome seems to play a role in the progression of knee osteoarthritis. mtDNA variation could improve identification of patients predisposed to faster or severe progression of the disease.

Dataset Information

Identification of Polynesian mtDNA haplogroups in remains of Botocudo Amerindians from Brazil.

Publications

Identification of Polynesian mtDNA haplogroups in remains of Botocudo Amerindians from Brazil.

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