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

Abstract

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.

Effect of genetic variations in drug transporters, metabolizing enzyme and regulatory genes on the development of HIV‐associated lipodystrophy

“…94 Polymorphism in LPL gene was associated with higher plasma triglyceride and cholesterol levels leading to cause CVD and acute myocardial infarction in Caucasian populations. 94 Moreover, LPL gene was reported to be associated with several disorders, such as obesity, dyslipidemia, hypertension (HTN) and T2DM. LPL S447X polymorphism was associated with higher LPL activity and it was linked to a less atherogenic phenotype in Singapore population.…”

“…LPL gene, present at chromosome 8p22, consists of 9 introns and 10 exons in wide range of ~35‐kb DNA 93 . Genetic variations in LPL gene are linked with impaired TG metabolism and worsen the course of the disease 94 . Polymorphism in LPL gene was associated with higher plasma triglyceride and cholesterol levels leading to cause CVD and acute myocardial infarction in Caucasian populations 94 .…”

“…Genetic variations in LPL gene are linked with impaired TG metabolism and worsen the course of the disease 94 . Polymorphism in LPL gene was associated with higher plasma triglyceride and cholesterol levels leading to cause CVD and acute myocardial infarction in Caucasian populations 94 . Moreover, LPL gene was reported to be associated with several disorders, such as obesity, dyslipidemia, hypertension (HTN) and T2DM.…”