BackgroundMaonan nationality belongs to a mountain ethnic minority in China. Little is known about the association of apolipoprotein A1 gene (APOA1) rs964184 single nucleotide polymorphism (SNP) and serum lipid levels in this population. The aim of this study was to detect the association of the APOA1 rs964184 SNP and several environmental factors with serum lipid profiles in the Chinese Maonan and Han populations.MethodsGenotypes of the APOA1 rs964184 SNP in 867 individuals of Maonan nationality and 820 participants of Han nationality were determined by polymerase chain reaction and restriction fragment length polymorphism, combined with gel electrophoresis, and confirmed by direct sequencing.ResultsThe frequencies of CC, CG and GG genotypes of the APOA1 rs964184 SNP were 68.86, 29.18 and 1.96% in the Maonan population, and 63.78, 30.85 and 5.37% in the Han population (P < 0.001). The frequency of the G allele was 16.55% in Maonan and 20.79% in Han (P < 0.001). The G allele carriers had lower high-density lipoprotein cholesterol (HDL-C) levels in Maonan and higher triglyceride (TG) levels in Han peoples than the G allele non-carriers. Subgroup analyses showed that the G allele carriers had lower HDL-C levels in both Maonan males and females; and lower apolipoprotein (Apo) A1 levels and the ApoA1/ApoB ratio in Han males than the G allele non-carriers. Serum lipid parameters in the two ethnic groups were also associated with several environmental factors.ConclusionsThe present study reveals that there may be a racial/ethnic- and/or gender-specific association between the APOA1 rs964184 SNP and serum lipid parameters in our study populations.Trial registrationRetrospectively registered.

Background : The T-cell immunoglobulin and mucin domain 4 gene ( TIMD4 ) rs6882076 single nucleotide polymorphism (SNP) has been associated with serum total cholesterol, low-density lipoprotein cholesterol and triglycerides (TG) levels, but the results are inconsistent. Moreover, little is known about such association in Chinese populations. The aim of this study was to detect the association of the TIMD4 rs6882076 SNP and serum lipid levels and the risk of coronary heart disease (CHD) and ischemic stroke (IS) in a Southern Chinese Han population. Methods : Genotypes of the TIMD4 rs6882076 SNP in 1765 unrelated subjects (CHD, 581; IS, 559 and healthy controls, 625) were determined by the Snapshot Technology. Results : The genotypic and allelic frequencies of the TIMD4 rs6882076 SNP were different between the CHD/IS patients and controls ( P < 0.05 for all). The subjects with CT/TT genotypes were associated with decreased risk of CHD ( P = 0.014 for CT/TT vs . CC genotypes, P = 0.010 for T vs . C alleles) and IS ( P = 0.003 for CT/TT vs . CC genotypes; P = 0.016 for T vs . C alleles). The T allele carriers in healthy controls were also associated with decreased levels of serum TG. Conclusions : The results of the present study suggest that the TIMD4 rs6882076 SNP is associated with decreased risk of CHD and IS in our study population. It is likely to decrease the CHD and IS risk by reducing serum TG levels.

the relationship among the single nucleotide polymorphisms (Snps) of the c-X-c motif chemokine ligand 12 gene (CXCL12) and the serum lipid profiles in the Chinese population has rarely been described, especially in somewhat old-fashioned and isolated Maonan minority. The goal of the current study was to elucidate the connection among the CXCL12 rs501120 and rs1746048 SNPs, haplotypes, several environmental factors and serum lipid traits in the Maonan as well as Han populations. Genotyping of the two SNPs, gel electrophoresis and direct sequencing were accomplished in 1,494 distinct subjects (Maonan, 750 and Han, 744) using polymerase chain reaction and restriction fragment length polymorphism. The frequencies of genotypes as well as alleles of the two SNPs were not similar between the two ethnic groups. The rs501120 SNP was related with serum total cholesterol levels, while the rs1746048 SNP was related with serum apolipoprotein (Apo) B levels. Four haplotypes were identified, of which the rs501120A-rs1746048C haplotype was the most common. The haplotypes of rs501120A-rs1746048T increased and rs501120G-rs1746048C decreased the risk of hyperlipidemia (P < 0.001 for each), showing consistent association with the levels of serum triglyceride, ApoA1 and ApoB. These outcomes specify that the CXCL12 Snps as well as their haplotypes are related to serum lipid levels. Different serum lipid levels between both populations may partially be related to the CXCL12 SNPs, their haplotypes along with several environmental factors. Recent reports have found that cardiovascular disease (CVD) gives rise to high morbidity, disability and mortality around the world 1. The death from coronary artery disease (CAD) has increased about 35% over the 20 years from 1990 to 2010, and CAD has become one of the primary causes to mortality 2. It is extensively accepted that dyslipidemia is strongly related to the risk of CAD 3. To acquire the risk evaluation of CAD, we conducted a survey about standard lipid profiles, involving serum levels of total cholesterol (TC) 4 , triglyceride (TG) 5 , high-density lipoprotein cholesterol (HDL-C) 6 , low-density lipoprotein cholesterol (LDL-C) 7 , and apolipoprotein (Apo) A1, ApoB and the ratio of ApoA1 to ApoB 6 in the Maonan and Han populations. Until now, genome-wide association studies (GWASes) have recognized abundant genetic mutations related to the risk of CAD 8 , and various environmental factors with their interactions could have an impact on serum lipid levels 9 , such as gender, age, obesity, cigarette smoking, physical inactivity, diabetes, and hypertension 10-14. When it comes to genetic factor, we found one gene and two novel single nucleotide polymorphisms (SNPs) which were reported from previous GWASes and other genetic studies 8,15-17. The C-X-C motif chemokine ligand 12 (CXCL12, or called stromal cell-derived factor 1, SDF1) is encoded by the CXCL12 on chromosome 10. This gene is an important member of the CXC subfamily of chemokines that is generally expressed in several human tissues a...