title: Familial Hypercholesterolemia Phenotype in Chinese Patients Undergoing Coronary Angiography.
abstract: OBJECTIVE
  Familial hypercholesterolemia (FH) is characterized by an elevated low-density lipoprotein cholesterol and increased risk of premature coronary artery disease. However, the general picture and mutational spectrum of FH in China are far from recognized, representing a missed opportunity for the investigation.
  
  
  RESULTS
  A total of 8050 patients undergoing coronary angiography were enrolled. The diagnosis of clinical FH was made using Dutch Lipid Clinic Network criteria, and the information of relatives was obtained by inquiring for the probands or from their own medical records of certain clinics/hospitals. Molecular analysis of FH was performed using target exome sequencing inLDLR(low-density lipoprotein cholesterol receptor gene),APOB(apolipoprotein B gene), andPCSK9(proprotein convertase subtilisin/kexin type 9 gene). As a result, 3.5% of the patients with definite/probable FH phenotype (definite 1.0% and probable 2.5%) were identified. Women FH had fewer premature coronary artery disease (women <60, or men <55 years of age) when compared with men FH (70.6% versus 82.7%;P<0.001), whereas angiographic extension of coronary artery disease was significantly increased with FH diagnosis in both men and women (P<0.001). Patterns of medication use in definite/probable FH were as follows: nontreated, 20.6%; low intensity, 6.0%; moderate intensity, 68.3%; and high intensity, 5.0%. However, none of them had achieved the low-density lipoprotein cholesterol <100 mg/dL. Additionally, mutational analysis was performed in 245 definite/probable FH cases, and risk variants were identified in 115 patients, giving a detection rate of 46.9%.
  
  
  CONCLUSIONS
  We showed firsthand a common identification but poor treatment of patients with FH phenotype in Chinese coronary angiography patients. Genetic data in our FH cases might contribute to update the frequency and spectrum of Chinese FH scenarios.
authors.affiliation: From the Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, XiCheng District, Beijing (J.-J.L., S.L., C.-G.Z., N.-Q.W., Y.Z., Y.-L.G., Y.G., X.-L.L., P.Q., C.-J.C., R.-X.X., J.S., G.L., Q.D.); and Genesky Biotechnologies Inc, PuDong New Area, Shanghai, China (Z.-W.J.). lijianjun938@126.com.
authors.forename: Jian-Jun
authors.initials: JJ
authors.lastname: Li
authors.affiliation: From the Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, XiCheng District, Beijing (J.-J.L., S.L., C.-G.Z., N.-Q.W., Y.Z., Y.-L.G., Y.G., X.-L.L., P.Q., C.-J.C., R.-X.X., J.S., G.L., Q.D.); and Genesky Biotechnologies Inc, PuDong New Area, Shanghai, China (Z.-W.J.).
authors.forename: Sha
authors.initials: S
authors.lastname: Li
authors.affiliation: From the Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, XiCheng District, Beijing (J.-J.L., S.L., C.-G.Z., N.-Q.W., Y.Z., Y.-L.G., Y.G., X.-L.L., P.Q., C.-J.C., R.-X.X., J.S., G.L., Q.D.); and Genesky Biotechnologies Inc, PuDong New Area, Shanghai, China (Z.-W.J.).
authors.forename: Cheng-Gang
authors.initials: CG
authors.lastname: Zhu
authors.affiliation: From the Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, XiCheng District, Beijing (J.-J.L., S.L., C.-G.Z., N.-Q.W., Y.Z., Y.-L.G., Y.G., X.-L.L., P.Q., C.-J.C., R.-X.X., J.S., G.L., Q.D.); and Genesky Biotechnologies Inc, PuDong New Area, Shanghai, China (Z.-W.J.).
authors.forename: Na-Qiong
authors.initials: NQ
authors.lastname: Wu
authors.affiliation: From the Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, XiCheng District, Beijing (J.-J.L., S.L., C.-G.Z., N.-Q.W., Y.Z., Y.-L.G., Y.G., X.-L.L., P.Q., C.-J.C., R.-X.X., J.S., G.L., Q.D.); and Genesky Biotechnologies Inc, PuDong New Area, Shanghai, China (Z.-W.J.).
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: From the Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, XiCheng District, Beijing (J.-J.L., S.L., C.-G.Z., N.-Q.W., Y.Z., Y.-L.G., Y.G., X.-L.L., P.Q., C.-J.C., R.-X.X., J.S., G.L., Q.D.); and Genesky Biotechnologies Inc, PuDong New Area, Shanghai, China (Z.-W.J.).
authors.forename: Yuan-Lin
authors.initials: YL
authors.lastname: Guo
authors.affiliation: From the Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, XiCheng District, Beijing (J.-J.L., S.L., C.-G.Z., N.-Q.W., Y.Z., Y.-L.G., Y.G., X.-L.L., P.Q., C.-J.C., R.-X.X., J.S., G.L., Q.D.); and Genesky Biotechnologies Inc, PuDong New Area, Shanghai, China (Z.-W.J.).
authors.forename: Ying
authors.initials: Y
authors.lastname: Gao
authors.affiliation: From the Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, XiCheng District, Beijing (J.-J.L., S.L., C.-G.Z., N.-Q.W., Y.Z., Y.-L.G., Y.G., X.-L.L., P.Q., C.-J.C., R.-X.X., J.S., G.L., Q.D.); and Genesky Biotechnologies Inc, PuDong New Area, Shanghai, China (Z.-W.J.).
authors.forename: Xiao-Lin
authors.initials: XL
authors.lastname: Li
authors.affiliation: From the Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, XiCheng District, Beijing (J.-J.L., S.L., C.-G.Z., N.-Q.W., Y.Z., Y.-L.G., Y.G., X.-L.L., P.Q., C.-J.C., R.-X.X., J.S., G.L., Q.D.); and Genesky Biotechnologies Inc, PuDong New Area, Shanghai, China (Z.-W.J.).
authors.forename: Ping
authors.initials: P
authors.lastname: Qing
authors.affiliation: From the Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, XiCheng District, Beijing (J.-J.L., S.L., C.-G.Z., N.-Q.W., Y.Z., Y.-L.G., Y.G., X.-L.L., P.Q., C.-J.C., R.-X.X., J.S., G.L., Q.D.); and Genesky Biotechnologies Inc, PuDong New Area, Shanghai, China (Z.-W.J.).
authors.forename: Chuan-Jue
authors.initials: CJ
authors.lastname: Cui
authors.affiliation: From the Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, XiCheng District, Beijing (J.-J.L., S.L., C.-G.Z., N.-Q.W., Y.Z., Y.-L.G., Y.G., X.-L.L., P.Q., C.-J.C., R.-X.X., J.S., G.L., Q.D.); and Genesky Biotechnologies Inc, PuDong New Area, Shanghai, China (Z.-W.J.).
authors.forename: Rui-Xia
authors.initials: RX
authors.lastname: Xu
authors.affiliation: From the Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, XiCheng District, Beijing (J.-J.L., S.L., C.-G.Z., N.-Q.W., Y.Z., Y.-L.G., Y.G., X.-L.L., P.Q., C.-J.C., R.-X.X., J.S., G.L., Q.D.); and Genesky Biotechnologies Inc, PuDong New Area, Shanghai, China (Z.-W.J.).
authors.forename: Zheng-Wen
authors.initials: ZW
authors.lastname: Jiang
authors.affiliation: From the Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, XiCheng District, Beijing (J.-J.L., S.L., C.-G.Z., N.-Q.W., Y.Z., Y.-L.G., Y.G., X.-L.L., P.Q., C.-J.C., R.-X.X., J.S., G.L., Q.D.); and Genesky Biotechnologies Inc, PuDong New Area, Shanghai, China (Z.-W.J.).
authors.forename: Jing
authors.initials: J
authors.lastname: Sun
authors.affiliation: From the Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, XiCheng District, Beijing (J.-J.L., S.L., C.-G.Z., N.-Q.W., Y.Z., Y.-L.G., Y.G., X.-L.L., P.Q., C.-J.C., R.-X.X., J.S., G.L., Q.D.); and Genesky Biotechnologies Inc, PuDong New Area, Shanghai, China (Z.-W.J.).
authors.forename: Geng
authors.initials: G
authors.lastname: Liu
authors.affiliation: From the Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, XiCheng District, Beijing (J.-J.L., S.L., C.-G.Z., N.-Q.W., Y.Z., Y.-L.G., Y.G., X.-L.L., P.Q., C.-J.C., R.-X.X., J.S., G.L., Q.D.); and Genesky Biotechnologies Inc, PuDong New Area, Shanghai, China (Z.-W.J.).
authors.forename: Qian
authors.initials: Q
authors.lastname: Dong
mesh_terms: D017668:Age of Onset; D000924:Anticholesteremic Agents / Q000627:therapeutic use; D053299:Apolipoprotein B-100 / Q000235:genetics; D044466:Asian People / Q000235:genetics; D002681:China / Q000453:epidemiology; D008078:Cholesterol, LDL / Q000097:blood*; D017023:Coronary Angiography; D003324:Coronary Artery Disease / Q000000981:diagnostic imaging* / Q000208:ethnology; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D015995:Prevalence; D000071449:Proprotein Convertase 9 / Q000235:genetics; D011446:Prospective Studies; D011973:Receptors, LDL / Q000235:genetics; D012307:Risk Factors
chemical_list: C569471:APOB protein, human; D000924:Anticholesteremic Agents; D053299:Apolipoprotein B-100; D008078:Cholesterol, LDL; D005819:Genetic Markers; C573412:LDLR protein, human; D011973:Receptors, LDL; C472125:PCSK9 protein, human; D000071449:Proprotein Convertase 9
keywords: Chinese; body mass index; coronary; familial hypercholesterolemia; identification