Schrodi, S. J. | bioRxiv Science

bioRxiv2025

Genomes of the Golden Horde Elites and their Implications for the Rulers of the Mongol Empire

The Golden Horde, the northwestern extension of the Mongol Empire that was ruled by the eldest son of Genghis Khan (also spelled Chinggis Khan) and his descendants, played an important role in the history of Central Eurasia and eastern Europe. For this reason, the genetic profiles of Genghis Khan and his descendants are of keen academic and public interest. His Y-chromosome has been hypothesized to belong to haplogroup C3* (C2a1a3-F1918) but this has yet to be substantiated. To explore the genetic ancestry of Genghis Khan, we analyzed four archaeological individuals from the Golden Horde, including three males and one female, who were buried in separate medieval elite mausoleums in the Ulitau region of Kazakstan. One of the males is believed to be Joshi (Juchi), the eldest son of Genghis Khan. We generated genomic data from these archaeological individuals and found that the three males were paternally related, sharing the Y-chromosome haplogroup C3*, consistent with the hypothesized signature haplotype of Genghis Khan. In addition, we confirm that the Golden Horde elites derived most of their genomes from Ancient Northeast Asians (ANA) while having an additional ancestral component from either Ancient North Eurasians (ANE) or a Berel Scythian related population. Furthermore, we were able to identify their medieval relatives in the Mongolian Plateau through constructing an Identity by Descent (IBD) network.

genomics↗

bioRxiv2020

MicroRNA variants and HLA-miRNA interactions are novel rheumatoid arthritis susceptibility factors

ObjectiveAlthogh Genome-wide association studies have identified >100 variants for rheumatoid arthritis (RA),the reported genetic variants only explain <40% of RA heritability. We conducted a systemic association study between common East-Asian miRNA SNPs with RA in a large Han Chinese cohort to explain missing heritability and identify miRNA epistatic interactions. Methods4 HLA SNPs (HLA-DRB1, HLA-DRB9, HLA-DQB1 and TNFAIP3) and 225 common SNPs located in miRNA which might influence the miRNA target binding or pre-miRNA stability were genotyped in 1,607 rheumatoid arthritis and 1,580 matched normal individuals. A meta-analysis with previous GWAS studies (4,873 RA cases and 17,642 controls) was performed to discovery another novel miRNA RA-associated SNPs. Results2 novel SNPs including rs1414273 (miR-548ac, OR=0.84, P=8.26x10-4) and rs2620381 (miR-627, OR=0.77, P=2.55x10-3) conferred significant association with RA. Individuals carried 8 risk alleles showed 15.38 (95%CI: 4.69-50.49, P<1.0x10-6) times more risk to be affected by RA. In addition, rs5997893 (miR-3928) showed significant epistasis effect with rs4947332 (HLA-DRB1, OR=4.23, P=0.04) and rs2967897 (miR-5695) with rs7752903 (TNFAIP3, OR=4.43, P=0.03). Finally, we demonstrated targets of the significant miRNAs showed enrichment in immune related genes (P=2.0x10-5) and FDA approved drug target genes (P=0.014). Conclusions6 novel miRNA SNPs including rs1414273 (miR-548ac, P=8.26x10-4), rs2620381 (miR-627, P=2.55x10-3), rs4285314 (miR-3135b, P=1.10x10-13), rs28477407 (miR-4308, P=3.44x10-5), rs5997893 (miR-3928, P=5.9x10-3) and rs45596840 (miR-4482, P=6.6x10-3) were confirmed to be significantly associated with RA in a Chinese population. Our study suggests that miRNAs might be interesting targets to accelerate the understanding of the pathogenesis and drug development for rheumatoid arthritis.

genetics↗