Abstract
BackgroundAbnormalities in lipid metabolism are crucial factors in the pathogenesis of cardiovascular disease (CVD). Variants of many genes have been verified to confer risk for lipid metabolism abnormalities. However, the relationship between genetic variants of the NCC-encoding SLC12A3 gene and lipid metabolism in the Mongolian population remains unclear. In the present study, we aimed to elucidate the effects of SLC12A3 variants on Mongolian lipid metabolism, including total cholesterol (TCHO), triglycerides (TG), low-density lipoprotein cholesterol (LDL-c), and high-density lipoprotein cholesterol (HDL-c).MethodsA randomly selected population of Mongolians (n = 331) from China underwent clinical testing. An ANOVA test, Kruskal-Wallis H test (K-W test) and haplotype analysis were used to evaluate the association between the levels of lipids (TCHO, TG, LDL-c, and HDL-c) and polymorphisms in SLC12A3 loci.ResultsWe identified three single nucleotide polymorphisms (SNPs) rs5803, rs2010501 and rs711746 in the SLC12A3 gene that were significantly associated with an individual’s serum LDL-c level. Haplotypes combining these SNPs also showed the same trend (all p values < 0.01). Furthermore, the influence of SLC12A3 genetic polymorphisms on differences in individual serum LDL-c levels remained significant, even after we controlled gender, and demographic and other non-genetic factors.ConclusionThese results suggest that variants of the SLC12A3 gene confer susceptibility to the abnormal serum LDL-c level in the Mongolian population.
Highlights
Abnormalities in lipid metabolism are crucial factors in the pathogenesis of cardiovascular disease (CVD)
Our previous studies demonstrated the association of SLC12A3 gene variants with Mongolian hypertension [21,22,23] and we found that the levels of TC [21], TG [21,22,23] and low-density lipoprotein cholesterol (LDL-c) [21, 23] are significantly increased, whereas that of high-density lipoprotein cholesterol (HDL-c) [21] is slightly decreased in Mongolian hypertension when compared with Mongolian normotensives
In this study, we investigated the influence of genetic polymorphisms in the SLC12A3 gene on human serum lipid levels (TCHO, TG, HDL-c and LDL-c), within a randomly selected Mongolian cohort in China
Summary
Abnormalities in lipid metabolism are crucial factors in the pathogenesis of cardiovascular disease (CVD). We aimed to elucidate the effects of SLC12A3 variants on Mongolian lipid metabolism, including total cholesterol (TCHO), triglycerides (TG), low-density lipoprotein cholesterol (LDL-c), and high-density lipoprotein cholesterol (HDL-c). Abnormalities in lipid metabolism, such as increased levels of triglycerides (TG) and low-density lipoprotein cholesterol(LDL-c), and decreased levels of high-density lipoprotein cholesterol(HDL-c), have been identified to be crucial factors to the pathogenesis of CVD [2, 3]. In addition to genetic predisposition, epidemiological risk factors play crucial roles in the abnormalities of lipid profiles, including, 1) gender differences, a common feature in an individual’s serum lipid levels, and 2) body mass index Rimm et al [19] documented that consuming 30 g of ethanol per day increased the concentrations of HDL-c by 3.99 mg/dL, and TG by 5.69 mg/dL; Yin et al [11, 20] showed that BMI, cigarette smoking and alcohol consumption could interact with certain lipid-related gene variants to modify the serum lipid levels in BaiKu Yao and Han Chinese ethnic groups
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