title: The distribution and characteristics of LDL receptor mutations in China: A systematic review.
abstract: Familial hypercholesterolemia (FH) is a common and serious dominant genetic disease, and its main pathogenic gene is the low-density lipoprotein receptor (LDLR) gene. This study aimed to perform a systematic review of LDLR mutations in China. Using PubMed, Embase, Wanfang (Chinese), the Chinese National Knowledge Infrastructure (Chinese), and the Chinese Biological and Medical database (Chinese), public data were limited to December 2014. The Medical Subject Headings terms and the following key words were used: "familial hypercholesterolemia", "Chinese", "China", "Hong Kong", and "Taiwan". A total of 74 studies including 295 probands with 131 LDLR mutations were identified. Most of the mutations were located in exon 4 of LDLR and approximately 60% of the mutations were missense mutations. Thirty new mutations that were not recorded in the LDLR databases were found. In silico analysis revealed that most of the mutations were pathogenic. The primary LDLR mutations were C308Y, H562Y, and A606T, and all of the mutations had functional significance. Prevalence data suggest that there are nearly 3.8 million FH patients in China, although reported numbers are much smaller, suggesting that FH is widely misunderstood. This systematic review provides information that is specific to China for inclusion in the international FH database.
authors.affiliation: Beijing Anzhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases. The Key Laboratory of Remodelling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing 100029, China.
authors.forename: Long
authors.initials: L
authors.lastname: Jiang
authors.affiliation: Beijing Anzhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases. The Key Laboratory of Remodelling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing 100029, China.|Beijing Anzhen Hospital, Affiliated to Capital Medical University, Department of Dermatology, Beijing 100029, China.
authors.forename: Li-Yuan
authors.initials: LY
authors.lastname: Sun
authors.affiliation: Beijing Anzhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases. The Key Laboratory of Remodelling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing 100029, China.
authors.forename: Yan-Fang
authors.initials: YF
authors.lastname: Dai
authors.affiliation: Beijing Anzhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases. The Key Laboratory of Remodelling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing 100029, China.
authors.forename: Shi-Wei
authors.initials: SW
authors.lastname: Yang
authors.affiliation: Institute of Genomics, Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Chinese Academy of Sciences, Beijing 100101, China.|National Engineering Laboratory for Druggable Gene and Protein Screening, Northeast Normal University, Changchun 130024, Jilin, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Zhang
authors.affiliation: Beijing Anzhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases. The Key Laboratory of Remodelling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing 100029, China.
authors.forename: Lu-Ya
authors.initials: LY
authors.lastname: Wang
mesh_terms: D002681:China; D003198:Computer Simulation; D030541:Databases, Genetic; D006723:Hong Kong; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D008055:Lipids / Q000097:blood; D009154:Mutation / Q000235:genetics*; D059645:Mutation Rate; D010641:Phenotype; D011973:Receptors, LDL / Q000235:genetics*; D013624:Taiwan
chemical_list: D008055:Lipids; D011973:Receptors, LDL