Diniz Isabela Guerreiro, Noce Rosilene Reis Della, Pereira Ana Paula, Silva Aylla Núbia Lima Martins da, Sacuena Eliene Rodrigues Putira, Lemes Renan Barbosa, Cardoso-Costa Greice de Lemos, Araújo Gilderlânio Santana, Machado Jéssica Lígia Picanço, Figueiredo Fernanda Andreza de Pinho Lott, Hümemeier Tábita, Guerreiro João Farias
Universidade Federal do Pará, Instituto de Ciências Biológicas, Laboratório de Genética Humana e Médica, Belém, PA, Brazil.
Universidade Federal do Pará, Instituto de Ciências da Saúde, Faculdade de Nutrição, Belém, PA, Brazil.
Genet Mol Biol. 2022 May 11;45(2):e20210153. doi: 10.1590/1678-4685-GMB-2021-0153. eCollection 2022.
This study was carried out to investigate the frequency of genetic variants related to body mass index (BMI) and type 2 diabetes (T2D) and evaluating the potential impact of risk alleles on susceptibility to these disorders in six indigenous peoples from Brazilian Amazon region. The majority of Fst values for pairwise population comparisons among the indigenous groups are low or moderate. The indigenous people show high values of differentiation with Africans, Europeans and Southeast Asians and moderate values with East Asian and American populations, as expected. The allelic frequencies among indigenous indicate that the majority of associations observed with T2D in continental populations can be replicated in native Amazonians. The genetic risk scores calculated for T2D in indigenous are high and similar to those calculated for Americans and East Asians, while the estimates obtained for obesity are low, probably due to the low frequencies of the risk allele of the FTO gene found in our samples. ADRB3-rs4994 and ABCC8-rs1799854 genes showed a significant association with BMI and waist circumference, and the KCNJ11-rs5219 gene with hyperglycemia. These results emphasize the importance of knowing the genetic variability underlying complex genetic diseases in indigenous peoples and the search for particular or rare variants.
本研究旨在调查与体重指数（BMI）和2型糖尿病（T2D）相关的基因变异频率，并评估风险等位基因对巴西亚马逊地区六个原住民群体中这些疾病易感性的潜在影响。在这些原住民群体之间进行的成对群体比较中，大多数Fst值较低或中等。正如预期的那样，原住民与非洲人、欧洲人和东南亚人表现出高度的差异，与东亚人和美洲人群体表现出中等差异。原住民中的等位基因频率表明，在大陆人群中观察到的与T2D相关的大多数关联在亚马逊原住民中可以复制。为原住民计算的T2D遗传风险评分很高，与为美国人和东亚人计算的评分相似，而肥胖的估计值很低，这可能是由于我们样本中发现的FTO基因风险等位基因频率较低。ADRB3-rs4994和ABCC8-rs1799854基因与BMI和腰围显著相关，KCNJ11-rs5219基因与高血糖显著相关。这些结果强调了了解原住民复杂遗传疾病潜在遗传变异性以及寻找特定或罕见变异的重要性。
