Altered renal lipid metabolism and renal lipid accumulation in human diabetic nephropathy

We studied 100 healthy monozygotic and 72 dizygotic twin pairs (mean age, 34±14 years) to test for genetic influences on blood lipids and to examine relevant gene loci. Total cholesterol (TC), LDL cholesterol (LDL-C), HDL cholesterol (HDL-C), and triglyceride (TG) levels were determined after a 12-hour fast. Zygosity was determined with the use of microsatellite markers. Heritability estimates were conducted by using the lisrel 8 program; a sib-pair analysis was conducted by using the sibpal program. Linear regression analyses were carried out between identical-by-descent status and squared within-pair differences of TC, LDL-C, HDL-C, and TG values. Heritability estimates of the lipid serum concentrations ranged from.58 to.66. A significant linkage relationship was found for HDL-C (P=.008) and TGs (P=.05) with D8S261 on chromosome 8p. However, no linkage was found between any of the lipid variables and the lipoprotein lipase gene locus (LPL GZ14/15 and D8S282). Because D8S261 is located approxima...

Heritability Analysis of Lipids and Three Gene Loci in Twins Link the Macrophage Scavenger Receptor to HDL Cholesterol Concentrations

Although the efficacy of fluvastatin (HMG-CoA reductase inhibitor) in the treatment of primary hypercholesterolemia is well documented, a wide interindividual variation treatment response has been observed. We have studied the possible role of the AvaII (exon 13), HincII (exon 12), and PvuII (intron 15) polymorphisms at the low-density lipoprotein receptor (LDLR) gene on lipid-lowering response in 55 patients (36 to 70 years old) with primary hypercholesterolemia treated with fluvastatin for 16 weeks. LDLR genotypes were determined by PCR-RFLP. The results indicate that the AvaII and PvuII polymorphisms influence the cholesterol-lowering response of the HMG-CoA reductase inhibitor Fluvastatin. Patients carrying A+A+ (AvaII) or P1P1 (PvuII) homozygous genotypes presented lower reduction in total cholesterol, LDL-C and apolipoprotein B levels after 16 weeks of treatment with fluvastatin, when compared to other genotypes (P <0.05). Our data also support the previous assumption that the AvaII, HincII, and PvuII polymorphisms of the LDLR gene are associated with variation of serum cholesterol levels. Therefore, the identification of the LDLR genetic profile may provide better prediction of a patient's clinical response to fluvastatin. J. Clin. Lab. Anal. 14:125–131, 2000. © 2000 Wiley-Liss, Inc.

/pdf/lipid-lowering-response-of-the-hmg-coa-reductase-inhibitor-5eo1u2jeqi.pdf

Lipid‐lowering response of the HMG‐CoA reductase inhibitor fluvastatin is influenced by polymorphisms in the low‐density lipoprotein receptor gene in Brazilian patients with primary hypercholesterolemia

Pvu II intron 15 polymorphism at the LDL receptor gene is associated with differences in serum lipid concentrations in subjects with low and high risk for coronary artery disease from Brazil.

Complex phenotypes such as serum lipid concentrations involve numerous genes and require the analysis of the combined effects of these gene products. We modeled the interactions of six key lipid metabolism genes by means of differential equations. We tested the model by inserting the effects of known mutations in the low-density lipoprotein receptor gene and the lipoprotein lipase gene, as well as the effects of a high-fat diet, and observed that the predictions corresponded very well to published measurements. Models such as the one that we present here will become indispensable for analyzing and understanding the effects of variation in multiple genes.

A pathway model of lipid metabolism to predict the effect of genetic variability on lipid levels

We have used anchored PCR to amplify and sequence 1400 bp of the 15th intron of the Low Density Lipoprotein (LDL) receptor gene, and have determined oligonucleotides and conditions for the genotyping of the previously reported PvuII polymorphism. The cutting site (CAGCTG) is created by the transition of a CpG to a TpG within the sequence CAGCCG at a position roughly 600 bp 5' from the splice acceptor site of exon 16. Genotype was determined in three population-based samples of healthy individuals. In a group of 318 men and women from Iceland the frequencies of the Intron-15 T (cutting) allele was 0.23 (95% CI, 0.19-0.28) and was similar in men and women. In two groups of men from England (n = 385) and Scotland (n = 320), the frequency was similar, being 0.23 (0.19-0.27) and 0.25 (0.22-0.28) respectively. Individuals who were homozygous for the T allele had lower levels of total-cholesterol triglycerides and apolipoprotein B, than those with other genotypes, and in the combined group of UK men this effect reached statistical significance; compared to the C/C group, the T/T group had 6% lower cholesterol (p = 0.02) and 15% lower triglycerides (p = 0.03). The lowering effect associated with the T/T genotype was greater in men who were in the lowest tertile of body mass index (< 25 kg/m2) and for the trait of apoB levels, this genotype x obesity interaction was statistically significant (p = 0.01). We thus confirm the association between this allele and lower levels of plasma lipid levels previously reported. The availability of a PCR-based method to detect this polymorphism will facilitate further investigation of the impact of LDL-receptor gene variation in determining lipid levels.

/pdf/detection-of-the-low-density-lipoprotein-receptor-gene-pvuii-3lddeennc1.pdf

Detection of the low density lipoprotein receptor gene PvuII intron 15 polymorphism using the polymerase chain reaction: association with plasma lipid traits in healthy men and women.

Background Observational studies suggest that inflammatory markers may increase the risk of idiopathic sudden sensorineural hearing loss (ISSHL). However, the causal relationship between the two has not been established. We sought to assess the possible causal effect between several genetically predicted inflammatory markers and ISSHL by Mendelian random (MR) analysis. Methods We extracted single nucleotide polymorphisms (SNPs) associated with C-reactive protein (CRP), Tumor necrosis factor-α (TNF-α), and fibrinogen from abstract data from the European Individual Large genome-wide association studies (GWAS). Genetic data for ISSHL were obtained from the FinnGen study (n = 196,592). Effect estimates were assessed using inverse variance weighting (IVW) as the primary method. Sensitivity analyses were performed using weighted median, MR-Egger, and MR-PRESSO to evaluate heterogeneity and pleiotropy. Results In the random-effects IVW approach, there was a significant causal relationship between genetic susceptibility to CRP levels and ISSHL (OR = 1.23, 95% CI = 1.02–1.49, P = 0.03). In contrast, genetic TNF-α and fibrinogen were not risked factors for ISSHL (OR = 1.14, 95% CI = 0.88–1.49, P = 0.30; OR = 0.74, 95% CI = 0.07–7.96, P = 0.30; OR = 1.05, 95% CI = 0.88–1.25, P = 0.59). All the above results were consistent after validation by different Mendelian randomization methods and sensitivity analyses. Conclusion This Mendelian randomization study provides causal evidence that CRP is a risk factor for ISSHL, while TNF-α and fibrinogen do not increase the risk for ISSHL Introduction.

/pdf/inflammatory-markers-and-the-risk-of-idiopathic-sudden-hhqomm5z.pdf

Inflammatory markers and the risk of idiopathic sudden sensorineural hearing loss: A Mendelian randomization study


 Background: Examine the association of serum Lp(a) with sarcopenia in Chinese elderly.Methods: We conducted this study using 2015–2020 data from hospitalized Chinese people 60 years old and older. Total body fat percentage and appendicular skeletal muscle mass were assessed with a dual-energy X-ray absorptiometry scan. We classified the participants into four sarcopenia/obesity groups based on both total body fat percentage and appendicular skeletal muscle mass.Results: The analysis included data of 528 participants. the LP(a) level of sarcopenia was significantly higher than no sarcopenia, compared with obese or no obese groups. Furthermore, In the sarcopenic obesity group, the LP(a) level was highest. Correlation analysis showed that ASM/height2 was negatively correlated with LP(a). Logistic regression analysis showed that sarcopenia was positively associated with LP(a).Conclusions: Our study shows that sarcopenia appeared to be significantly associated with Lp(a) no matter the subjects had obesity or not.

/pdf/relationships-between-serum-lipoprotein-a-and-sarcopenia-in-3upp26h7.pdf

Relationships Between Serum Lipoprotein (a) And Sarcopenia In Elderly

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Detection of the low density lipoprotein receptor gene PvuII intron 15 polymorphism using the polymerase chain reaction: association with plasma lipid traits in healthy men and women.

Inflammatory markers and the risk of idiopathic sudden sensorineural hearing loss: A Mendelian randomization study

Relationships Between Serum Lipoprotein (a) And Sarcopenia In Elderly