EASL Clinical Practice Guidelines (2017) the diagnosis and management of patients with primary biliary cholangitis. J Hepatol 67(1):145–172
Hirschfield GM, Gershwin ME (2013) The immunobiology and pathophysiology of primary biliary cirrhosis. Annu Rev Pathol 8:303–330
Article CAS PubMed Google Scholar
Lleo A et al (2020) Primary biliary cholangitis. Lancet 396(10266):1915–1926
Article CAS PubMed Google Scholar
Trivedi PJ, Hirschfield GM (2021) Recent advances in clinical practice: epidemiology of autoimmune liver diseases. Gut 70(10):1989–2003
Zeng N et al (2019) Epidemiology and clinical course of primary biliary cholangitis in the Asia-Pacific region: a systematic review and meta-analysis. Hepatol Int 13(6):788–799
Parés A, Guañabens N (2018) Primary biliary cholangitis and bone disease. Best Pract Res Clin Gastroenterol 34–35:63–70
Chen JL et al (2023) Prevalence and risk factors of osteoporosis detected by dual-energy X-ray absorptiometry among Chinese patients with primary biliary cholangitis. World J Gastroenterol 29(29):4580–4592
Article CAS PubMed PubMed Central Google Scholar
Liao CY et al (2018) Increased risk of osteoporosis in patients with primary biliary cirrhosis. PLoS ONE 13(3):e0194418
Article PubMed PubMed Central Google Scholar
Schmidt T et al (2018) Disease duration and stage influence bone microstructure in patients with primary biliary cholangitis. J Bone Miner Res 33(6):1011–1019
Article CAS PubMed Google Scholar
Guañabens N et al (2005) Severity of cholestasis and advanced histological stage but not menopausal status are the major risk factors for osteoporosis in primary biliary cirrhosis. J Hepatol 42(4):573–577
Guañabens N et al (2010) Low bone mass and severity of cholestasis affect fracture risk in patients with primary biliary cirrhosis. Gastroenterology 138(7):2348–2356
Schönau J et al (2023) Risk of fractures and postfracture mortality in 3980 people with primary biliary cholangitis: a population-based cohort study. J Intern Med 294(2):164–177
Curry SJ et al (2018) Screening for osteoporosis to prevent fractures: US Preventive Services Task Force Recommendation Statement. JAMA 319(24):2521–2531
Pouresmaeili F et al (2018) A comprehensive overview on osteoporosis and its risk factors. Ther Clin Risk Manag 14:2029–2049
Article CAS PubMed PubMed Central Google Scholar
Cosman F et al (2014) Clinician’s guide to prevention and treatment of osteoporosis. Osteoporos Int 25(10):2359–2381
Article CAS PubMed PubMed Central Google Scholar
Danford CJ et al (2020) The Pharmacologic management of osteoporosis in primary biliary cholangitis: a systematic review and meta-analysis. J Clin Densitom 23(2):223–236
Boonstra K, Beuers U, Ponsioen CY (2012) Epidemiology of primary sclerosing cholangitis and primary biliary cirrhosis: a systematic review. J Hepatol 56(5):1181–1188
Estrada K et al (2012) Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet 44(5):491–501
Article CAS PubMed PubMed Central Google Scholar
Roshandel D et al (2010) Genetic variation in the RANKL/RANK/OPG signaling pathway is associated with bone turnover and bone mineral density in men. J Bone Miner Res 25(8):1830–1838
Article CAS PubMed Google Scholar
Juran BD et al (2012) Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants. Hum Mol Genet 21(23):5209–5221
Article CAS PubMed PubMed Central Google Scholar
Tang R et al (2016) A common variant in CLDN14 is associated with primary biliary cirrhosis and bone mineral density. Sci Rep 6:19877
Article CAS PubMed PubMed Central Google Scholar
Wu S et al (2023) The causal relationship between autoimmune diseases and osteoporosis: a study based on Mendelian randomization. Front Endocrinol (Lausanne) 14:1196269
Davey Smith G, Hemani G (2014) Hemani, Mendelian randomization: genetic anchors for causal inference in epidemiological studies. Hum Mol Genet 23(R1):89–98
Skrivankova VW et al (2021) Strengthening the reporting of observational studies in epidemiology using mendelian randomisation (STROBE-MR): explanation and elaboration. BMJ 375:n2233
Article PubMed PubMed Central Google Scholar
Emdin CA, Khera AV, Kathiresan S (2017) Mendelian randomization. JAMA 318(19):1925–1926
Cordell HJ et al (2021) An international genome-wide meta-analysis of primary biliary cholangitis: novel risk loci and candidate drugs. J Hepatol 75(3):572–581
Article CAS PubMed PubMed Central Google Scholar
Zhou W et al (2018) Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. Nat Genet 50(9):1335–1341
Article CAS PubMed PubMed Central Google Scholar
Sakaue S et al (2021) A cross-population atlas of genetic associations for 220 human phenotypes. Nat Genet 53(10):1415–1424
Article CAS PubMed Google Scholar
Lam M et al (2020) RICOPILI: Rapid Imputation for COnsortias PIpeLIne. Bioinformatics 36(3):930–933
Article CAS PubMed Google Scholar
Watanabe K et al (2017) Functional mapping and annotation of genetic associations with FUMA. Nat Commun 8(1):1826
Article PubMed PubMed Central Google Scholar
Pulit SL et al (2019) Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. Hum Mol Genet 28(1):166–174
Article CAS PubMed Google Scholar
Revez JA et al (2020) Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration. Nat Commun 11(1):1647
Article PubMed PubMed Central Google Scholar
Mbatchou J et al (2021) Computationally efficient whole-genome regression for quantitative and binary traits. Nat Genet 53(7):1097–1103
Article CAS PubMed Google Scholar
Graham SE et al (2021) The power of genetic diversity in genome-wide association studies of lipids. Nature 600(7890):675–679
Article CAS PubMed PubMed Central Google Scholar
Schmitz D et al (2021) Genome-wide association study of estradiol levels and the causal effect of estradiol on bone mineral density. J Clin Endocrinol Metab 106(11):e4471–e4486
Article PubMed PubMed Central Google Scholar
Ruth KS et al (2020) Using human genetics to understand the disease impacts of testosterone in men and women. Nat Med 26(2):252–258
Article CAS PubMed PubMed Central Google Scholar
Burgess S, Davies NM, Thompson SG (2016) Bias due to participant overlap in two-sample Mendelian randomization. Genet Epidemiol 40(7):597–608
Article PubMed PubMed Central Google Scholar
Bulik-Sullivan BK et al (2015) LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat Genet 47(3):291–295
Article CAS PubMed PubMed Central Google Scholar
Mounier N, Kutalik Z (2023) Bias correction for inverse variance weighting Mendelian randomization. Genet Epidemiol 47(4):314–331
留言 (0)