서울대학교 생물정보학 협동과정 주최로 세미나를 아래와 같이 열고자 하오니 많은 참여 바랍니다.

세미나는 Zoom을 통한 온라인 강의로 예정되어 있으며 강의에 참여하고자 하시는 분께서는 아래의 링크로 참여 부탁드리겠습니다.

*줌으로 참석하기 위해서는 "참석자로 회의 참가" --> 이름, 성, 이메일 주소, 이메일 주소 확인을 입력하시고 등록하시면 회의 참석이 가능합니다.

일시: 2023년 4월 20일 목요일 오전 11시

연사: 최정균 교수님 (KAIST)

Zoom link: https://snu-ac-kr.zoom.us/j/93026622635?pwd=d0hEM09XR05aMnExUnlPdStpcFJnZz09

Monocyte-specific regulation of ERAP2 by genetic risk factors for COVID-19 severity and autoimmune diseases

Jung Kyoon Choi

Department of Bio and Brain Engineering, KAIST, Daejeon 34141, Korea

Genetic dissection of complex diseases by genome-wide association studies indicates a role for regulatory variants. Here, we develop a computational framework for systematic modeling of risk variants mapped to open chromatin regions across 99 cell types. This model reveals significant implications of gene regulation in monocytes or macrophages for the genetic risk of COVID-19 severity and major autoimmune diseases. Single-cell eQTL mapping based on 620 PBMC samples identifies ERAP2 expression in monocytes as commonly associated with COVID-19 and autoimmune diseases. ERAP2 expression as well as the relative fraction of CD14+ or CD16+ monocytes is lower in more severe COVID-19 cases but increases upon antiviral treatment or vaccination. The variants that repress ERAP2 in monocytes increase COVID-19 severity and compromise vaccine responses while showing protective effects for autoimmune diseases. Population genetic analyses support balancing selection acting on these variants. These results suggest the medical and evolutionary implications of antigen presentation by ERAP2 in monocytes or macrophages in infectious and autoimmune diseases.