Detection of an amino acid polymorphism in hormone-sensitive lipase in Japanese subjects

Shimada, Fumiyuki; Makino, Hideichi; Hashimoto, Naotake; Iwaoka, Hiroko; Taira, Masato; Nozaki, Osamu; Kanatsuka, Azuma; Holm, Cecilia; Langin, Dominique; Saitō, Yasushi

doi:10.1016/s0026-0495(96)90160-2

Cited by 24 publications

(25 citation statements)

References 11 publications

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“…Neither did we detect any mutations in the 30 abdominally obese subjects or in the 29 hypertriglyceridaemic subjects screened for exons 4, 6 and 8. A polymorphism described previously in exon 4 of the HSL gene (Arg309Cys), seen in 5.2 % of Japanese control subjects [26], could not be detected in 89 Scandinavian subjects.…”

Section: Resultscontrasting

confidence: 57%

“…It was present in 5.2 % of the control population, and there was no difference in the allele frequency between Type II diabetic patients and healthy subjects. Serum triglyceride and HDL-cholesterol concentrations were similar in subjects with either arginine or cysteine in this position, while total serum cholesterol concentration were higher in Type II diabetic subjects heterozygous for Arg309-Cys [26]. The polymorphism in codon 309 could not be identified in our study group.…”

Section: Discussioncontrasting

confidence: 60%

“…In a Japanese population, a polymorphism has been observed in the coding regions of the HSL gene [26], changing an arginine to a cysteine in codon 309 (exon 4). It was present in 5.2 % of the control population, and there was no difference in the allele frequency between Type II diabetic patients and healthy subjects.…”

Section: Discussionmentioning

confidence: 99%

“…In addition, 30 abdominally obese subjects with MSDR and 29 hypertriglyceridaemic subjects were screened for exons of putative functional importance: exon 6 encodes the serine of the catalytic triad and exon 8 encodes known phosphorylation sites [10,18,25]. In exon 4, a polymorphism (Arg309Cys) has been identified in a Japanese [26], and thus 89 subjects were screened seeking to identify subjects with this polymorphism.…”

Section: Methodsmentioning

confidence: 99%

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The putative role of the hormone-sensitive lipase gene in the pathogenesis of Type II diabetes mellitus and abdominal obesity

et al. 1998

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Section: Resultscontrasting

confidence: 57%

Section: Discussioncontrasting

confidence: 60%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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The putative role of the hormone-sensitive lipase gene in the pathogenesis of Type II diabetes mellitus and abdominal obesity

et al. 1998

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“…The Arg309Cys polymorphism was associated with fasting serum total cholesterol in Japanese subjects with type 2 diabetes, but not with type 2 diabetes status, obesity and serum triglyceride levels. 11 An association was also found between a dinucleotide repeat in intron 7 of the LIPE gene 12 and type 2 diabetes in subjects with abdominal obesity. 13 Results from two studies revealed no evidence of linkage between the same dinucleotide repeat and familial combined hyperlipidemia in Finnish families 14 or atherogenic lipoprotein phenotype in dizygotic female twins.…”

Section: Introductionmentioning

confidence: 94%

The hormone-sensitive lipase gene and body composition: the HERITAGE Family Study

et al. 2002

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OBJECTIVE:To investigate whether the C-60G polymorphism and other markers in the hormone-sensitive lipase (LIPE) gene are associated with baseline body composition and free-fatty acid (FFA) concentrations measured at rest and during low-intensity exercise in white and black subjects participating in the HERITAGE Family Study. SUBJECTS: Adult sedentary white (245 men and 258 women) and black (91 men and 185 women) subjects. MEASUREMENTS: body mass index (BMI); fat mass (FAT); percentage body fat (%FAT); fat-free mass (FATFR); sum of eight skinfolds (SF8); subcutaneous (ASF), visceral (AVF) and total (ATF) abdominal fat areas assessed by CT scan; plasma FFA concentrations measured at rest (FFAR), at a power output of 50 W (FFA50) and at a relative power output of 60% of VO 2max (FFA60%); and fasting insulin (INS). STATISTICAL ANALYSIS: Association between the C-60G polymorphism of the LIPE gene and each phenotype was tested separately in men and women using ANCOVA with the effects of age and race as covariates and with further adjustment for FAT for ASF, AVF, ATF, FFAR, FFA50 and FFA60%. Secondly, owing to significant gene-by-race interaction, associations were investigated separately in each of the two race groups. Linkage was tested with the C-60G polymorphism, a dinucleotide repeat polymorphism in the intron 7 of the LIPE gene and two microsatellites markers (D19S178 and D19S903) flanking the LIPE gene. RESULTS: There were no race differences in the allele frequencies of the C-60G polymorphism of the LIPE gene. No association or gene-by-race interaction was observed in men. However, in women, strong gene-by-race interactions were observed for BMI (P ¼ 0.0005), FAT (P ¼ 0.0007), %FAT (P ¼ 0.0003), SF8 (P ¼ 0.0001), ASF (P ¼ 0.03) and ATF (P ¼ 0.01). When the analysis was performed separately in each race, white women carriers of the -60G allele exhibited lower %FAT (P ¼ 0.005) and SF8 (P ¼ 0.01) than non-carriers, while in black women, the -60G allele was associated with higher BMI (P ¼ 0.004), FAT (P ¼ 0.009), %FAT (P ¼ 0.01) and SF8 (P ¼ 0.0009). These associations were no longer significant after adjusting for INS. Evidence of linkage was observed in whites with ATF, FFAR, FFA50 and FFA60%. CONCLUSION: These results suggest that the C-60G polymorphism in the LIPE gene plays a role in determining body composition and that its effect is sex-, race-and insulin-dependent.

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Physiological and Pharmacological Regulation of Triacylglycerol Storage and Mobilization

Müller¹,

Petry²

2004

Lipases and Phospholipases in Drug Development

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Detection of an amino acid polymorphism in hormone-sensitive lipase in Japanese subjects

Cited by 24 publications

References 11 publications

The putative role of the hormone-sensitive lipase gene in the pathogenesis of Type II diabetes mellitus and abdominal obesity

The putative role of the hormone-sensitive lipase gene in the pathogenesis of Type II diabetes mellitus and abdominal obesity

The hormone-sensitive lipase gene and body composition: the HERITAGE Family Study

Physiological and Pharmacological Regulation of Triacylglycerol Storage and Mobilization

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