| Autor: |
Di Sun, Bing-Yang Zhou, Sha Li, Ning-Ling Sun, Qi Hua, Shu-Lin Wu, Yun-Shan Cao, Yuan-Lin Guo, Na-Qiong Wu, Cheng-Gang Zhu, Ying Gao, Chuan-Jue Cui, Geng Liu, Jian-Jun Li |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
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| Zdroj: |
Lipids in Health and Disease, Vol 17, Iss 1, Pp 1-8 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
1476-511X |
| DOI: |
10.1186/s12944-018-0900-8 |
| Popis: |
Abstract Background Although there have been many reports in the genetics of familial hypercholesterolemia (FH) worldwide, studies in regard of Chinese population are lacking. In this multi-center study, we aim to characterize the genetic spectrum of FH in Chinese population, and examine the genotype-phenotype correlations in detail. Methods A total of 285 unrelated index cases from China with clinical FH were consecutively recruited. Next-generation sequencing and bioinformatics tools were used for mutation detection of LDLR, APOB and PCSK9 genes and genetic analysis. Results Overall, the detection rate is 51.9% (148/285) in the unrelated index cases with a total of 119 risk variants identified including 84 in the LDLR gene, 31 in APOB and 4 in PCSK9 gene. Twenty-eight variants were found in more than one individual and LDLR c.1448G > A (p. W483X) was most frequent one detected in 9 patients. Besides, we found 8 (7 LDLR and 1 APOB) novel variants referred as “pathogenic (or likely pathogenic) variants” according to in silico analysis. In the phenotype analysis, patients with LDLR null mutation had significantly higher LDL cholesterol level than LDLR defective and APOB/PCSK9 mutation carriers and those with no mutations (p |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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