Identify new or novel genes which may impact on cholesterol level, and establish the relationship between those gene mutations with atherosclerosis, as well as responses to lipid-lowering drugs.
To better understand the genetics basis for LDL-C elevation and develop an optimized lipid-lowering strategy, we propose to do the following studies: 1. To establish a China HoFH registry, and collect DNA and blood samples from all available family members of each proband (pedigrees); 2. To detect gene mutations known to cause FH and identify family suitable for future whole genome sequencing aimed to identify novel genes controlling cholesterol levels. 3.To establish the relationship between types of gene mutations and lipid and atherosclerosis profile, as well as responses to lipid-lowering agents.
Study Type
OBSERVATIONAL
Enrollment
5
Gene analysis
Collecting historical data of lipid-lowering drug administration
Collecting historical data of plasma lipids and xanthoma changes
Cardiology department of 2nd Xiangya Hospital
Changsha, Hunan, China
Number of LDLR Gene Mutations
Number of gene mutations based on the sequencing results in terms of some known genes and suspected novel genes. c.796 G\>C and c.1048 C\>T in the LDLR gene c.1448 G\>A and c.1720C\>A in the LDLR gene c.2030 G \>A and c.1257 C\>A in the LDLR gene homozygous mutation c.605 T\>C in the LDLR gene
Time frame: 1 year
LDL-C Reduction Percentage
plasma LDL-C reduction percentage with lipid-lowering drugs from pre-treatment to the last time follow-up time point plasma LDL-C reduction percentage calculation: "plasma LDL-C at pre-treatment time point" minus "plasma LDL-C at the last time follow-up time point", and then compared with "plasma LDL-C at pre-treatment time point", namely "plasma LDL-C reduction percentage".
Time frame: pre-treatment and 6-13 years post treatment
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