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The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Jiang L, Sun LY, Dai YF, Yang SW, Zhang F, Wang LY - Sci Rep (2015)

Bottom Line: Thirty new mutations that were not recorded in the LDLR databases were found.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.

View Article: PubMed Central - PubMed

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.

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.

No MeSH data available.


Related in: MedlinePlus

Distribution of Chinese LDLR mutations.
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f2: Distribution of Chinese LDLR mutations.

Mentions: In 1985, Cai et al. identified the first five Chinese HoFH patients using a radio-labeled ligand assay, although the technology at that time could not be used to define the site of the mutation12. Later, Hobbs and Sun et al. identified LDLR mutation sites and their functions using PCR and cDNA cloning technology, respectively, in patients with FH from Jiangsu Province1314. In our systematic review, we found 63 related studies that reported Chinese LDLR mutation sites. Thus far, 295 probands, including 131 LDLR mutations, have been reported (Supplemental Table S1 online); the geographical distribution of the characteristics of the LDLR mutations is shown in Supplemental Figure S2 online. The distribution of mutations revealed that most of the mutations were located in exon 4, and the next largest percentages of mutations were located in exons 9, 13, and 14. There was also a high number of intronic mutations, similar to a recently reported study15 (Fig. 2). In addition, approximately 60.3% (79/131) of the mutations were missense mutations, 13% (17/131) were nonsense mutations, and 2.3% (3/131) were large fragment deletion mutations. However, the functions of only 30.5% (40/131) of the mutations have been identified.


The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Jiang L, Sun LY, Dai YF, Yang SW, Zhang F, Wang LY - Sci Rep (2015)

Distribution of Chinese LDLR mutations.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4660303&req=5

f2: Distribution of Chinese LDLR mutations.
Mentions: In 1985, Cai et al. identified the first five Chinese HoFH patients using a radio-labeled ligand assay, although the technology at that time could not be used to define the site of the mutation12. Later, Hobbs and Sun et al. identified LDLR mutation sites and their functions using PCR and cDNA cloning technology, respectively, in patients with FH from Jiangsu Province1314. In our systematic review, we found 63 related studies that reported Chinese LDLR mutation sites. Thus far, 295 probands, including 131 LDLR mutations, have been reported (Supplemental Table S1 online); the geographical distribution of the characteristics of the LDLR mutations is shown in Supplemental Figure S2 online. The distribution of mutations revealed that most of the mutations were located in exon 4, and the next largest percentages of mutations were located in exons 9, 13, and 14. There was also a high number of intronic mutations, similar to a recently reported study15 (Fig. 2). In addition, approximately 60.3% (79/131) of the mutations were missense mutations, 13% (17/131) were nonsense mutations, and 2.3% (3/131) were large fragment deletion mutations. However, the functions of only 30.5% (40/131) of the mutations have been identified.

Bottom Line: Thirty new mutations that were not recorded in the LDLR databases were found.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.

View Article: PubMed Central - PubMed

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.

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.

No MeSH data available.


Related in: MedlinePlus