The first Japanese cases of familial hypercholesterolemia due to a known pathogenic APOB gene variant, c.10580 G>A: p.(Arg3527Gln)

Journal of Clinical Lipidology - Tập 14 - Trang 482-486 - 2020
Mika Hori1, Atsushi Takahashi2, Cheol Son3, Masatsune Ogura1, Mariko Harada-Shiba1
1Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan
2Department of Genomic Medicine, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan
3Laboratory of Clinical Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan

Tài liệu tham khảo

Harada-Shiba, 2018, Guidelines for diagnosis and treatment of familial hypercholesterolemia 2017, J Atheroscler Thromb, 25, 751, 10.5551/jat.CR003 Benn, 2016, Mutations causative of familial hypercholesterolaemia: screening of 98,908 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217, Eur Heart J, 37, 1384, 10.1093/eurheartj/ehw028 Tada, 2017, Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia, Eur Heart J, 38, 1573, 10.1093/eurheartj/ehx004 Tada, 2018, Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease, J Clin Lipidol, 12, 1436, 10.1016/j.jacl.2018.08.006 Hori, 2019, Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients, Atherosclerosis, 289, 101, 10.1016/j.atherosclerosis.2019.08.004 Fouchier, 2005, Update of the molecular basis of familial hypercholesterolemia in The Netherlands, Hum Mutat, 26, 550, 10.1002/humu.20256 Price, 2006, Principal components analysis corrects for stratification in genome-wide association studies, Nat Genet, 38, 904, 10.1038/ng1847 Tadaka, 2019, 3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome, Hum Genome Var, 6, 28, 10.1038/s41439-019-0059-5 Karczewski, 2019, 531210 Real, 2003, Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population, Eur J Hum Genet, 11, 959, 10.1038/sj.ejhg.5201079 Nordestgaard, 2013, Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society, Eur Heart J, 34, 3478, 10.1093/eurheartj/eht273 Chiou, 2016, Genetic diagnosis of familial hypercholesterolemia in Han Chinese, J Clin Lipidol, 10, 490, 10.1016/j.jacl.2016.01.009 Andersen, 2016, Familial defective apolipoprotein B-100: a review, J Clin Lipidol, 10, 1297, 10.1016/j.jacl.2016.09.009