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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

Frequencies of the main LDLR mutations in different regions of China.
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f3: Frequencies of the main LDLR mutations in different regions of China.

Mentions: Among all of the 131 mutations, three mutations were reported more frequently: C308Y (c.986G > A, p.Cys329Tyr), H562Y (c.1747C > T, His583Tyr) and A606T (c.1879G > A, p.Ala627Thr) (Table 1), which accounted for 23% of the probands. Furthermore, three groups were identified based on their different geographical locations in China to determine whether there were characteristic mutations in each region: the North of China group, the South of China group, and the Taiwan Province group. Because of the special historical background of Taiwan Province, it was classified as an independent group. The three most common mutations in the North of China group were A606T (c.1879G > A, p.Ala627Thr), D601Y (c.1864G > T, p.Asp622Tyr) and 313 + 1G > A, and their frequencies represented 18.5%, 14.8%, and 7.4% of the probands in the North, respectively. The main mutations in the South of China group were not the same as in the North; they were W462X (c.1448G > A, p.Trp483X), A606T (c.1879G > A, p.Ala627Thr), and L393R (c.1241T > G, p.Leu414Arg), accounting for 10.7%, 7.5%, and 5.4%, respectively, of the probands in the South. However, there was a large difference between Taiwan Province and the other groups. The three most common mutations in Taiwan Province were C308Y (c.986G > A, p.Cys329Tyr), H562Y (c.1747C > T, His583Tyr), and D69N (c.268G > A, p.Asp90Asn), which accounted for 12%, 11.4%, and 7.4% of the Taiwanese probands, respectively (Fig. 3).


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)

Frequencies of the main LDLR mutations in different regions of China.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f3: Frequencies of the main LDLR mutations in different regions of China.
Mentions: Among all of the 131 mutations, three mutations were reported more frequently: C308Y (c.986G > A, p.Cys329Tyr), H562Y (c.1747C > T, His583Tyr) and A606T (c.1879G > A, p.Ala627Thr) (Table 1), which accounted for 23% of the probands. Furthermore, three groups were identified based on their different geographical locations in China to determine whether there were characteristic mutations in each region: the North of China group, the South of China group, and the Taiwan Province group. Because of the special historical background of Taiwan Province, it was classified as an independent group. The three most common mutations in the North of China group were A606T (c.1879G > A, p.Ala627Thr), D601Y (c.1864G > T, p.Asp622Tyr) and 313 + 1G > A, and their frequencies represented 18.5%, 14.8%, and 7.4% of the probands in the North, respectively. The main mutations in the South of China group were not the same as in the North; they were W462X (c.1448G > A, p.Trp483X), A606T (c.1879G > A, p.Ala627Thr), and L393R (c.1241T > G, p.Leu414Arg), accounting for 10.7%, 7.5%, and 5.4%, respectively, of the probands in the South. However, there was a large difference between Taiwan Province and the other groups. The three most common mutations in Taiwan Province were C308Y (c.986G > A, p.Cys329Tyr), H562Y (c.1747C > T, His583Tyr), and D69N (c.268G > A, p.Asp90Asn), which accounted for 12%, 11.4%, and 7.4% of the Taiwanese probands, respectively (Fig. 3).

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