Abstract
BackgroundThe serum lipid profile, including LDL-C level, is associated with hypertension which is the major cause of cerebrovascular disease (CVD) amounting 30% of global death rate. Previous work also demonstrated important roles of genetic variants of SLC12A3 gene on human CVD, hypertension and other diseases in Mongolian population. However, the relationship between SLC12A3 gene polymorphisms on individuals’ lipid profile is still unknown.MethodsA panel of 15 SNPs of SLC12A3 gene was genotyped within a 424 Mongolians pedigree cohort. The associations between SLC12A3 polymorphisms and four lipid profiles were analyzed by family-based association test (FBAT) and confirmed with haplotype analysis.ResultsFrom both single site and haplotype analyses, the results demonstrated a close relationship between SLC12A3 polymorphisms and LDL-C level. Two SNPs, rs5803 and rs711746 showed significant associations with individuals’ serum LDL-C level (z = − 2.08, P-e = 0.038; z = 2.09, P-e = 0.023, respectively), and distribution of haplotypes constructed by two SNPs also associated with participants’ serum LDL-C level, significantly (Global Chi2 = 9.06 df = 3, P = 0.028).ConclusionOur results demonstrated the importance of SLC12A3 polymorphisms in individuals’ difference about their serum lipid profiles, thereby providing evidence that the genetic variants may contribute to CVD development via modulating person’s LDL-C level and blood pressure, in certain contexts.
Highlights
The serum lipid profile, including low-density lipoprotein cholesterol (LDL-C) level, is associated with hypertension which is the major cause of cerebrovascular disease (CVD) amounting 30% of global death rate
Parameters to profile the lipid metabolism, which includes the level of total plasma cholesterol (TCHO), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C), and highdensity lipoprotein cholesterol (HDL-C), are of great importance, and often determined to estimate the risk of CVD [2]
Asselbergs et al, [9] confirms the association between SLC12A3 variants and individuals’ HDL-C levels, which may lead to CVD, in a large-scale meta-analysis related to 66,240 individuals of European ancestry
Summary
The serum lipid profile, including LDL-C level, is associated with hypertension which is the major cause of cerebrovascular disease (CVD) amounting 30% of global death rate. Previous work demonstrated important roles of genetic variants of SLC12A3 gene on human CVD, hypertension and other diseases in Mongolian population. Parameters to profile the lipid metabolism, which includes the level of total plasma cholesterol (TCHO), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C), and highdensity lipoprotein cholesterol (HDL-C), are of great importance, and often determined to estimate the risk of CVD [2]. Alteration of these parameters in serum, such as increased levels of TG, LDL-C, and decreased levels of HDL-C, have been identified to be crucial indicative factors to the. Our previous work demonstrated a close association between SLC12A3
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