Study of apolipoproteinc3 Sstl polymorphism in healthy volunteers from Northern India

Chhabra, S.; Agarwal, D. P.; Vasisht, Suman; Luthra, Kalpana; Narang, Rajiv; Manchanda, Smita; Lm, Srivastava; Das, Nibhriti

doi:10.1007/bf02867365

Cited by 2 publications

(1 citation statement)

References 29 publications

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“…However, our patients showed no correlation between this variant and lipid levels, with an S2 allele frequency of 13.7%. This is similar to findings reported for Chinese (29%), Japanese (25%), Korean (24%) and Arab (37%) individuals and higher than in British (2%), Finn (8%), American (8%) and Dutch (9%) patients [33]. These results suggest that the prevalence of the SstI polymorphism has ethnic specificity.…”

Section: Discussionsupporting

confidence: 79%

Association between Pro12Ala, Pvull, Avall, Sstl and ADIPOQ Single-Nucleotide Polymorphisms with Lipid and Glycemic Profiles of Patients with Berardinelli-Seip Syndrome

Baracho¹,

Nunes²,

Hirata³

et al. 2014

Ann Nutr Metab

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Background/Aims: Berardinelli-Seip syndrome (BSS) is a recessive autosomal genetic disorder characterized by the near loss of adipose tissue with disturbance in lipid metabolism. Methods: Biochemical and hormonal parameters and Pro12Ala, Pvull, Avall, Sstl and ADIPOQ polymorphisms in 22 patients with BSS were analyzed and examined for a possible association with lipid profiles. Results: Parental consanguinity, insulin resistance and diabetes mellitus were observed in 63.6, 81.8 and 59.1% of patients, respectively. All individuals presented high triglyceride levels, and 68.1% of patients showed high cholesterol levels. The Pro/Pro genotype of the Pro12Ala polymorphism of the PPARγ2 gene was found in 86.3% of patients; the Ala/Ala variant was not observed in any patient. The PvuII polymorphism of the LPL gene showed a frequency of 50% for the P1P2 variant. The AvaII polymorphism of the LDLR gene showed a similar frequency of 40.9% for both CT and TT variants. The S1S1 genotype of the Sstl polymorphism of the APOC3 gene had a frequency of 86.3%. The CC allele of the ADIPOQ polymorphism of the adiponectin gene was found in 54.6% of patients. Conclusions: No association was found between lipid parameters and the relevant Pvull, Avall and Sstl polymorphisms. However, we did observe an association of the Pro12Ala and ADIPOQ polymorphisms with higher lipid levels, suggesting a close relationship between these factors.

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Section: Discussionsupporting

confidence: 79%

Association between Pro12Ala, Pvull, Avall, Sstl and ADIPOQ Single-Nucleotide Polymorphisms with Lipid and Glycemic Profiles of Patients with Berardinelli-Seip Syndrome

Baracho¹,

Nunes²,

Hirata³

et al. 2014

Ann Nutr Metab

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Genetic variants on apolipoprotein gene cluster influence triglycerides with a risk of coronary artery disease among Indians

et al. 2009

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Apolipoprotein C3 and apolipoprotien A5 are proteins coded from the APOA1/C3/A4/A5 gene cluster. Sst I polymorphism on apolipoprotein C3 and -1131C polymorphism of apolipoprotien A5 are key variants involved in triglyceride metabolism and cause a significant cardio-metabolic risk. Here, we have evaluated these two variants for their roles in coronary artery disease in patients of the Indian population. The apolipoprotein gene cluster variants were analysed in 416 angiographically determined coronary artery disease patients and matched 416 controls using polymerase chain reaction-restriction fragment length polymorphism. The characteristics of the study subjects were analyzed statistically for their association with the polymorphisms. The alleles were combined as haplotypes and their combined risks were evaluated. The minor allele genotypes of both apolipoprotein C3 (S2) and apolipoprotien A5 (C) had a significant risk for coronary artery disease. The S2 allele genotyped patients had a significantly increased triglyceride level (P < 0.001) and increased triglycerides were observed among both patient and control CC genotype carriers. We identified the haplotype S2/C with a significant increased risk (P < 0.001) to coronary artery disease with increased levels of circulating triglycerides compared to other haplotypes in patients. We conclude that the variants on apolipoprotein C3 and apolipoprotien A5 modulate serum triglyceride levels and increase the risk of coronary artery disease.

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Study of apolipoproteinc3 Sstl polymorphism in healthy volunteers from Northern India

Cited by 2 publications

References 29 publications

Association between Pro12Ala, Pvull, Avall, Sstl and ADIPOQ Single-Nucleotide Polymorphisms with Lipid and Glycemic Profiles of Patients with Berardinelli-Seip Syndrome

Association between Pro12Ala, Pvull, Avall, Sstl and ADIPOQ Single-Nucleotide Polymorphisms with Lipid and Glycemic Profiles of Patients with Berardinelli-Seip Syndrome

Genetic variants on apolipoprotein gene cluster influence triglycerides with a risk of coronary artery disease among Indians

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