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Literature record

Association between the lipoprotein lipase rs1534649 gene polymorphism in intron one with Body Mass Index and High Density Lipoprotein-Cholesterol.

PMID 34354459 | PMCID PMC8324958 | DOI 10.1016/j.sjbs.2021.04.085 · Saudi journal of biological sciences · 2021

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Lipoprotein lipase (LPL) is an enzyme involved in lipid metabolism and distribution of fatty acids hence its role in the initiation and development of dyslipidemia and adiposity. Single nucleotide polymorphisms (SNPs) across the LPL gene have been associated with dyslipidemia, however, the association with obesity has been limited towards specific populations. This study examined the association between LPL gene polymorphisms with plasma lipid levels and body mass index (BMI) in the Kuwaiti population. We examined a total of 486 adults (303 and 183 females and males respectively) with plasma lipid levels and BMI. DNA samples were genotyped for two LPL gene polymorphisms (rs1534649 and rs28645722) using TaqMan allelic discrimination. The relationship between the genotypes with both plasma lipid levels and BMI were assessed using linear regression using "SNPassoc" package from R statistical software. Using an additive genetic model, linear regression analysis showed the T-allele of rs1534649 to be associated with increased BMI in a dose-dependent trend β = 2.13 (95% CI 1.33-2.94); p = 1.7 × 10-7. In addition, a borderline significance was observed between the T-allele and low levels of high density lipoprotein-cholesterol β = -0.04 (95% CI -0.08, -0.006); p = 0.02. There were no associations between rs28645722 and plasma lipid levels (p > 0.05). However, a trend was observed between the A-allele and increased BMI β = 1.75 (95% CI 0.14-3.35); p = 0.03. Our study shows intron one polymorphism rs1534649 to increase the risk of obesity and dyslipidemia. Our findings warrant further investigation of the mechanism of LPL on the development of obesity along with the role of intron one and its impact on LPL gene activity.

Validated evidence

TypeEntitySource evidenceConfidenceExtractor
phenotypedyslipidemia“Lipoprotein lipase (LPL) is an enzyme involved in lipid metabolism and distribution of fatty acids hence its role in the initiation and development of dyslipidemia and adiposity.”0.98phenotype_alias_lexicon_v2
phenotypeobesity“Single nucleotide polymorphisms (SNPs) across the LPL gene have been associated with dyslipidemia, however, the association with obesity has been limited towards specific populations.”0.98phenotype_alias_lexicon_v2
populationPopulation“We examined a total of 486 adults (303 and 183 females and males respectively) with plasma lipid levels and BMI.”0.80saudi_context_rules_v1
variantrs1534649“Association between the lipoprotein lipase rs1534649 gene polymorphism in intron one with Body Mass Index and High Density Lipoprotein-Cholesterol.”0.90hgvs_regex_v1
variantrs28645722“DNA samples were genotyped for two LPL gene polymorphisms (rs1534649 and rs28645722) using TaqMan allelic discrimination.”0.90hgvs_regex_v1