A large-scale genome-wide association meta-analysis study, initiated in 2017 and conducted by 102 contributors, made a wonderful story in the lupus genetics field, identifying 46 novel loci in the human genome in East Asian populations. This study has been led by Kwangwoo and Prof. Sang-Cheol Bae in Korea; Prof. Xianyong Yin and Prof. Yong Cui in China; and Dr. Hiroyuki Suetsugu and Dr. Chikashi Terao in Japan. Eunji Ha (at KimLab) participated as a co-author by performing several important computational analyses.
Through the collaborative effort of the East Asian SLE genetics network, we newly genotyped 10,029 SLE cases and 180,167 controls and subsequently meta-analyzed them jointly with 3,348 SLE cases and 14,826 controls from published studies in East Asians. We identified 113 SLE susceptibility loci, including 46 novel loci at genome-wide significance, with 169 association signals within non-HLA loci. Bayesian statistical fine-mapping analysis prioritized the putative causal variants to a small set of variants and identified putative causal variants with relatively high posterior probabilities.
