Jomon genome sheds light on East Asian population history

Anatomical modern humans reached East Asia by >40,000 years ago (kya). However, key questions still remain elusive with regard to the route(s) and the number of wave(s) in the dispersal into East Eurasia. Ancient genomes at the edge of East Eurasia may shed light on the detail picture of peopling to East Eurasia. Here, we analyze the whole-genome sequence of a 2.5 kya individual (IK002) characterized with a typical Jomon culture that started in the Japanese archipelago >16 kya. The phylogenetic analyses support multiple waves of migration, with IK002 forming a lineage basal to the rest of the ancient/present-day East Eurasians examined, likely to represent some of the earliest-wave migrants who went north toward East Asia from Southeast Asia. Furthermore, IK002 has the extra genetic affinity with the indigenous Taiwan aborigines, which may support a coastal route of the Jomon-ancestry migration from Southeast Asia to the Japanese archipelago. This study highlight the power of ancient genomics with the isolated population to provide new insights into complex history in East Eurasia.

Joint Effects of Alcohol Consumption and ABCG2 Q141K on Chronic Tophaceous Gout Risk

Objective.To investigate the joint effects of alcohol consumption and ABCG2 gene variants on tophaceous gout occurrence.Methods.The V12M (rs2231137), Q126X (rs72552713), and Q141K (rs2231142) of the ABCG2 gene were genotyped among controls, nontophaceous, and tophaceous gout cases in Taiwanese Han (n = 446, 77, 177) and Taiwan Aborigines (n = 1105, 203, 330).Results.The missense variations V12M (C) and Q141K (T) significantly associated with tophaceous gout (p trend = 4.08 × 10−2, 9.00 × 10−12 in Han; 1.81 × 10−3, 9.34 × 10−10 in Aborigines). The nonsense variation Q126X (T) exerted a significant effect only in Han (p = 1.10 × 10−2), but not in Aborigines. In the prediction of tophaceous gout, the Q141K (T) OR were 1.51 in Han, 1.50 in Aborigines, and 1.55 (p = 7.84 × 10−5) in pooled analysis when compared to nontophaceous gout. We found the joint effects of alcohol consumption and Q141K (T/T) highly associated with tophaceous gout (adjusted OR ≥ 5.11; p ≤ 7.78 × 10−4); specifically the ever drinkers carrying the Q141K (T/T; adjusted OR 25.05, p = 9.21 × 10−4 in Han; adjusted OR 14.87, p = 1.08 × 10−8 in Aborigines).Conclusion.Our findings showed alcohol consumption and ABCG2 Q141K, independently and jointly, associated with the risk of chronic tophaceous gout.