Incidence of lipoprotein lipase genotype for premature termination codon (Ser447-Ter) in Japanese, and association with dyslipoproteinemia

Murano, Takeyoshi; Miyashita, Yoh; Itoh, Yoshiaki; Tsuzuki, Satoko; Yamamori, Syunji; Watanabe, Hitoshi; Shirai, Kohji

doi:10.1016/s0009-8981(98)00084-9

Cited by 8 publications

(3 citation statements)

References 22 publications

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“…The frequency of the G allele of LPL Ser447Stop polymorphism was similar to that reported in other countries. 18,22,23,27 In fact, Murano et al 36 suggested that the Ser447Stop mutation might be distributed worldwide. In some studies, 14,17-19 a strong linkage disequi- librium among the 3 polymorphisms of LPL was found.…”

Section: Discussionmentioning

confidence: 99%

Polymorphism of the Lipoprotein Lipase Gene and Risk of Atherothrombotic Cerebral Infarction in the Japanese

Shimo-Nakanishi

Urabe

Hattori

et al. 2001

Stroke

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Section: Discussionmentioning

confidence: 99%

Polymorphism of the Lipoprotein Lipase Gene and Risk of Atherothrombotic Cerebral Infarction in the Japanese

Shimo-Nakanishi

Urabe

Hattori

et al. 2001

Stroke

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“…LPL has two structurally distinct regions consisting of an amino-terminal domain (residues 1-312) and carboxyl-terminal end (residues 313-448). The incidence of exon 9 (Ser447Ter) mutation in the healthy Japanese subjects was 21.0% (30). The carboxyl-terminus of LPL appears to play a major role in the initial interaction of LPL with lipoproteins, which is necessary for subsequent hydrolysis of circulating plasma TG (28).…”

Section: Discussionmentioning

confidence: 99%

Hypertriglyceridemia Characterized by Low-Density Lipoprotein Phenotype and Lipoprotein Lipase Gene Mutation

Li¹,

Kondo²,

Maekawa³

et al. 2000

Clinical Chemistry and Laboratory Medicine

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A high serum triglyceride (TG) concentration is associated with an increased serum concentration of small, dense low-density lipoprotein (LDL). To further characterize the hypertriglyceridemic condition, we examined sera from 240 subjects for small, dense LDL using non-denaturing polyacrylamide gradient gel electrophoresis. We focused on determining the frequency of the pattern B, which is characterized by a higher proportion of small, dense LDL, among hypertriglyceridemic individuals. The subjects were divided into four groups: a control group (TG < or = 1.65 mmol/l, high-density lipoprotein cholesterol (HDL-C) > or =1.17 mmol/l; n = 71), a high TG group (TG > 1.65 mmol/l, HDL-C > or = 1.17 mmol/l; n = 36), a group with high TG and low HDL-C (TG > 1.65 mmol/l, HDL-C < or = 0.91 mmol/l; n = 106), and a low HDL-C group (TG < or = 1.65 mmol/l, HDL-C < or = 0.91 mmol/l; n = 27). We found that pattern B occurs at a high frequency mainly in individuals with high TG and low HDL-C levels. We also observed an increased percentage of LDL within the 20.0 nm to 25.5 nm particle diameter range in this group. Analysis of the lipoprotein lipase gene in this group showed that some mutations seem to be associated with small, dense LDL, resulting in LDL pattern B.

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“…The first investigation in Europeans revealed an association of the X447 allele with beneficially low TG and high HDL cholesterol levels [58], today called "a good gene," which was confirmed in further investigations [30••,60]. In contrast to that, in Japanese people the Ser447X mutation is associated with atherogenic dyslipoproteinemia [61]; the reason remains unclear. Simil a r t o t h e a b ove -m e n t i o n e d l i n k e d a l l e l e ( -281T>G;106G>A) for the -93G>T polymorphism and the Asp9Asn mutation, a very high linkage disequilibrium between these three polymorphisms was noticed quite early [62].…”

Section: Lipoprotein Lipase Intron Polymorphisms Pvuii and Hindiii Anmentioning

confidence: 96%

Common mutations of the lipoprotein lipase gene and their clinical significance

Gehrisch

1999

Curr Atheroscler Rep

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The accumulation of triglyceride-rich lipoproteins is an independent factor for an increased risk for premature arteriosclerosis. Common mutations in the lipoprotein lipase (LPL) gene are at least in part inherited susceptibility factors involved in the age- and sex-dependent phenotypic expression of hypertriglyceridemia. It can be estimated that about 20% of patients with hypertriglyceridemia are carriers of common LPL gene mutations (Asp9Asn, Asn291Ser, Trp86Arg, Gly188Glu, Pro207Leu, Asp250Asn) associated with the HLP. Genotyping of these LPL gene mutations is recommended especially in patients with high risk for premature arteriosclerosis. A comparably high number of individuals are carriers of common mutations (Ser447X) or silent mutations (Thr361) associated with low favorable lipids.

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Incidence of lipoprotein lipase genotype for premature termination codon (Ser447-Ter) in Japanese, and association with dyslipoproteinemia

Cited by 8 publications

References 22 publications

Polymorphism of the Lipoprotein Lipase Gene and Risk of Atherothrombotic Cerebral Infarction in the Japanese

Polymorphism of the Lipoprotein Lipase Gene and Risk of Atherothrombotic Cerebral Infarction in the Japanese

Hypertriglyceridemia Characterized by Low-Density Lipoprotein Phenotype and Lipoprotein Lipase Gene Mutation

Common mutations of the lipoprotein lipase gene and their clinical significance

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