1500 – Genetics最新文献

{"title":"1507 The relationship between DNA methylation patterns and disease activity in a longitudinal multi-ancestral cohort of lupus patients","authors":"P. Coit, L. Ortiz-Fernández, E. Lewis, W. Joseph McCune, K. Maksimowicz-McKinnon, A. Sawalha","doi":"10.1136/lupus-2021-lupus21century.90","DOIUrl":"https://doi.org/10.1136/lupus-2021-lupus21century.90","url":null,"abstract":"","PeriodicalId":253913,"journal":{"name":"1500 – Genetics","volume":"38 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134431380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"1505 Genetics: flipons and the role of the left-handed Z-RNA conformation in interferonopathies","authors":"A. Herbert","doi":"10.1136/lupus-2021-lupus21century.88","DOIUrl":"https://doi.org/10.1136/lupus-2021-lupus21century.88","url":null,"abstract":"","PeriodicalId":253913,"journal":{"name":"1500 – Genetics","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131318315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"1502 Genetic predisposition to lupus across ancestries has >300 separable genetic contributions: what we know today","authors":"Viktoryia Laurynenka, L. Kottyan, M. Weirauch, K. Kaufman, J. Harley","doi":"10.1136/lupus-2021-lupus21century.85","DOIUrl":"https://doi.org/10.1136/lupus-2021-lupus21century.85","url":null,"abstract":"","PeriodicalId":253913,"journal":{"name":"1500 – Genetics","volume":"26 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115123319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"1504 The influence of dietary resistant starch content on the gut microbiota of patients with systemic lupus erythematosus and antiphospholipid syndrome","authors":"I. Kulyk, M. S. Pereira, S. Redanz, W. Ruff, T. Greiling, C. Dehner, O. Pagovich, Daniel Zegarra Ruiz, Cassyanne L. Aguiar, D. Erkan, M. Kriegel","doi":"10.1136/lupus-2021-lupus21century.87","DOIUrl":"https://doi.org/10.1136/lupus-2021-lupus21century.87","url":null,"abstract":"","PeriodicalId":253913,"journal":{"name":"1500 – Genetics","volume":"199 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124380608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"1508 Single-cell epigenetic profiling highlights genetic impact on chromatin accessibility in SLE","authors":"Sai Ma, Richard C. Pelikan, Yao Fu, J. Kelly, David Murphy, G. Wiley, Vinay K. Kartha, C. Lareau, Jason D. Buenrostro, P. Gaffney","doi":"10.1136/lupus-2021-lupus21century.91","DOIUrl":"https://doi.org/10.1136/lupus-2021-lupus21century.91","url":null,"abstract":"","PeriodicalId":253913,"journal":{"name":"1500 – Genetics","volume":"46 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117141103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"1509 Differences in chromatin architecture pre- and post-induction therapy in pediatric lupus patients","authors":"J. Hui-Yuen, K. Jiang, S. Malkiel, B. Diamond, J. Jarvis","doi":"10.1136/lupus-2021-lupus21century.92","DOIUrl":"https://doi.org/10.1136/lupus-2021-lupus21century.92","url":null,"abstract":"","PeriodicalId":253913,"journal":{"name":"1500 – Genetics","volume":"35 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115496956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"1501 Genetics of age at systemic lupus erythematosus diagnosis","authors":"R. Carlomagno, FangMing Liao, Jing-chao Cao, D. Dominguez, D. Gladman, Mariko Ishimori, C. Jefferies, D. Kamen, S. Kamphuis, M. Klein‐gitelman, A. Knight, Chia-Chi J Lee, D. Levy, K. Onel, A. D. Paterson, C. Peschken, J. Pope, Z. Touma, M. Urowitz, D. Wallace, Declan Webber, J. Wither, E. Silverman, L. Hiraki","doi":"10.1136/lupus-2021-lupus21century.84","DOIUrl":"https://doi.org/10.1136/lupus-2021-lupus21century.84","url":null,"abstract":"","PeriodicalId":253913,"journal":{"name":"1500 – Genetics","volume":"117 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123495486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"1510 Predicting risk of severe lupus nephritis in African Americans: the APOL1 story","authors":"B. Freedman","doi":"10.1136/lupus-2021-lupus21century.93","DOIUrl":"https://doi.org/10.1136/lupus-2021-lupus21century.93","url":null,"abstract":"BackgroundCompared to European, Asian and Native Americans, African Americans have a 3-fold higher risk of developing end-stage kidney disease (ESKD) and are more likely to develop severe lupus nephritis (LN).MethodsStrong genetic association is observed between the apolipoprotein L1 gene (APOL1) and a spectrum of non-diabetic chronic kidney diseases (CKD) in African Americans, including LN, focal segmental glomerulosclerosis, solidified glomerulosclerosis (hypertension-attributed nephropathy), HIV-associated nephropathy, sickle cell nephropathy, and premature failure of transplanted kidneys from APOL1 high-risk donors. APOL1 risk variants arose in sub-Saharan Africa and are present only in those who possess recent African ancestry. These variants account for much of the excess risk for LN and CKD in African Americans. Studies in transgenic mice prove that APOL1 risk variants cause CKD. Kidney disease is due to locally produced APOL1 protein in kidney cells, not circulating APOL1 protein in the blood.ResultsPatients with systemic lupus erythematosus who inherit two APOL1 risk variants are more likely to progress to ESKD and often display focal and diffuse proliferative or membranous glomerular lesions. Kidney disease often progresses despite cytotoxic therapy. In contrast, APOL1 is not associated with mild LN. Therefore, APOL1 risk variants are nephropathy progression factors. Not all individuals with two APOL1 risk variants develop CKD;modifying factors are required. HIV infection, SARS-CoV-2 infection, and interferon are powerful second hits that initiate nephropathy in genetically susceptible hosts.ConclusionsConventional treatments for kidney disease often fail to halt the progression of non-diabetic CKD. Novel small molecule inhibitors of APOL1 protein and APOL1 anti-sense oligonucleotides hold great promise for slowing progression of APOL1-associated nephropathy, including LN. Treatments have the potential to reduce disparities in CKD risk among individuals with African ancestry. In addition, the NIH ‘APOL1 Long-term Kidney Transplant Outcomes’ (APOLLO) Consortium is considering the role of APOL1 genotyping in deceased African American kidney donors to improve organ allocation. Discovery of the APOL1 genetic association with nephropathy in the lab has moved to the bedside and will improve patient outcomes.","PeriodicalId":253913,"journal":{"name":"1500 – Genetics","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134397375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"1503 High-throughput identification of regulatory functional Snps associated with systemic lupus erythematosus","authors":"Qiang Wang, Marta Martinez Bonet, M. Weirauch, P. Nigrovic","doi":"10.1136/lupus-2021-lupus21century.86","DOIUrl":"https://doi.org/10.1136/lupus-2021-lupus21century.86","url":null,"abstract":"","PeriodicalId":253913,"journal":{"name":"1500 – Genetics","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125374052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}