Reales Guillermo, Rovaris Diego L, Jacovas Vanessa C, Hünemeier Tábita, Sandoval José R, Salazar-Granara Alcibiades, Demarchi Darío A, Tarazona-Santos Eduardo, Felkl Aline B, Serafini Michele A, Salzano Francisco M, Bisso-Machado Rafael, Comas David, Paixão-Côrtes Vanessa R, Bortolini Maria Cátira
Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Am J Phys Anthropol. 2017 Jul;163(3):591-601. doi: 10.1002/ajpa.23233. Epub 2017 May 2.
To determine genetic differences between agriculturalist and hunter-gatherer southern Native American populations for selected metabolism-related markers and to test whether Neel's thrifty genotype hypothesis (TGH) could explain the genetic patterns observed in these populations.
375 Native South American individuals from 17 populations were genotyped using six markers (APOE rs429358 and rs7412; APOA2 rs5082; CD36 rs3211883; TCF7L2 rs11196205; and IGF2BP2 rs11705701). Additionally, APOE genotypes from 39 individuals were obtained from the literature. AMOVA, main effects, and gene-gene interaction tests were performed.
We observed differences in allele distribution patterns between agriculturalists and hunter-gatherers for some markers. For instance, between-groups component of genetic variance (F ) for APOE rs429358 showed strong differences in allelic distributions between hunter-gatherers and agriculturalists (p = 0.00196). Gene-gene interaction analysis indicated that the APOE E4/CD36 TT and APOE E4/IGF2BP2 A carrier combinations occur at a higher frequency in hunter-gatherers, but this combination is not replicated in archaic (Neanderthal and Denisovan) and ancient (Anzick, Saqqaq, Ust-Ishim, Mal'ta) hunter-gatherer individuals.
A complex scenario explains the observed frequencies of the tested markers in hunter-gatherers. Different factors, such as pleotropic alleles, rainforest selective pressures, and population dynamics, may be collectively shaping the observed genetic patterns. We conclude that although TGH seems a plausible hypothesis to explain part of the data, other factors may be important in our tested populations.
确定南美南部农业人群和狩猎采集人群在选定的代谢相关标志物上的基因差异，并检验尼尔的节俭基因型假说（TGH）是否能解释在这些人群中观察到的基因模式。
使用六个标志物（APOE rs429358和rs7412；APOA2 rs5082；CD36 rs3211883；TCF7L2 rs11196205；以及IGF2BP2 rs11705701）对来自17个群体的375名南美原住民个体进行基因分型。此外，从文献中获取了39名个体的APOE基因型。进行了分子变异分析（AMOVA）、主效应分析和基因-基因相互作用测试。
我们观察到一些标志物在农业人群和狩猎采集人群之间的等位基因分布模式存在差异。例如，APOE rs429358的遗传方差组间成分（F）显示，狩猎采集人群和农业人群之间的等位基因分布存在显著差异（p = 0.00196）。基因-基因相互作用分析表明，APOE E4/CD36 TT和APOE E4/IGF2BP2 A携带者组合在狩猎采集人群中出现的频率更高，但这种组合在古代（尼安德特人和丹尼索瓦人）和远古（安齐克人、萨卡克人、乌斯季-伊希姆人、马尔塔人）狩猎采集个体中未得到重复验证。
一个复杂的情况解释了在狩猎采集人群中观察到的测试标志物频率。不同的因素，如多效性等位基因、雨林选择压力和种群动态，可能共同塑造了观察到的基因模式。我们得出结论，虽然TGH似乎是一个合理的假说来解释部分数据，但其他因素在我们测试的人群中可能也很重要。
