The CXCL12 SNPs and their haplotypes are associated with serum lipid traits.

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.

TIMD4 rs6882076 SNP Is Associated with Decreased Levels of Triglycerides and the Risk of Coronary Heart Disease and Ischemic Stroke.

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.

Association of the APOA1 rs964184 SNP and serum lipid traits in the Chinese Maonan and Han populations.

BACKGROUND: Maonan 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. METHODS: Genotypes 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. RESULTS: The 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. CONCLUSIONS: The 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 REGISTRATION: Retrospectively registered.

Association of the LIPC rs1532085 SNP and serum lipid traits in the Chinese Maonan and Han populations.

The hepatic lipase gene (LIPC) is known to play an important role in lipid and lipoprotein metabolism pathways, but the association of the LIPC rs1532085 single nucleotide polymorphism (SNP) and serum lipid profiles has not been previously reported in different racial/ethnic groups. The present study was to detect the association of the LIPC rs1532085 SNP and several environmental factors with serum lipid levels in the Maonan and Han populations. Genotypes of the LIPC rs1532085 SNP in 833 individuals of Maonan nationality and 801 participants of Han nationality were determined by polymerase chain reaction and restriction fragment length polymorphism. The frequencies of AA, AG, and GG genotypes were 22.34%, 47.70%, and 29.96% in Han, and 24.96%, 51.38%, and 23.64% in Maonan populations (P < 0.05). The frequency of the G allele was 53.80% in Han and 49.33% in Maonan individuals (P < 0.05). The G allele carriers had lower total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C), Apolipoprotein (Apo) A1 and ApoB levels in Han than the G allele non-carriers, but not in Maonan. Subgroup analyses indicated that the G allele carriers had lower TC, TG, LDL-C and ApoA1 levels in Han females than the G allele non-carriers (P < 0.05-0.001). Serum lipid parameters in the two ethnic groups were also associated with several environmental factors. These findings revealed that there might be a racial/ethnic- and/or sex-specific association between the LIPC rs1532085 SNP and serum lipid parameters in some populations.

Association of the FRMD5 rs2929282 polymorphism and serum lipid profiles in two Chinese ethnic groups.

Little is known about the association of the single nucleotide polymorphism (SNP) of rs2929282 near the FERM domain containing 5 (FRMD5) and serum lipid profiles. The present study detected the association of the FRMD5 rs2929282 SNP and several environmental factors with serum lipid profiles in the Han and Jing populations. Genotyping of the FRMD5 rs2929282 SNP in 1065 subjects of Jing and 1061 participants of Han peoples was performed by polymerase chain reaction and restriction fragment length polymorphism, and then confirmed by direct sequencing. The genotypic and allelic frequencies of the SNP were different between Han and Jing (P < 0.05). The frequency of the T allele was higher in Han than in Jing (8.2% vs. 6.1%). The genotypic and allelic frequencies of the FRMD5 rs2929282 SNP were significantly different between Han males and females (P < 0.05 for each), but not between Jing males and females. The frequency of the T allele was higher in Han females than in Han males (9.3% vs. 6.5%). The FRMD5 rs2929282 T allele carriers had lower serum high-density lipoprotein cholesterol (HDL-C), apolipoprotein (Apo) A1, and ApoB levels, and higher triglyceride (TG) levels in Jing but not in Han than the T allele non-carriers. Subgroup analysis according to sex showed that the T allele carriers had higher serum TG levels in Jing females but not in males than the T allele non-carriers (P < 0.05). The T allele carriers had higher HDL-C levels in Han males but not in Han females, and lower HDL-C levels in Jing females but not in Jing males compared to the T allele non-carriers (P < 0.05). The T allele carriers had lower ApoA1 levels in Jing females but not in Jing males and lower ApoB levels in Jing males but not in Jing females than the T allele non-carriers (P < 0.05). Serum lipid traits were also associated with several environmental factors in the Han and Jing populations, and in males and females of the both ethnic groups. These findings indicated that there may be a racial/ethnic- and/or sex-specific association of the FRMD5 rs2929282 SNP and serum lipid levels.

Association of the CYP26A1 rs2068888 polymorphism and serum lipid traits in the Chinese Maonan and Han populations.

The cytochrome P450 protein plays an important role in the synthesis of cholesterol and other lipid parameters. But little is known about the association of the single nucleotide polymorphism (SNP) of rs2068888 near cytochrome P450 26A1 gene (CYP26A1) and serum lipid profiles in the Chinese Maonan and Han populations. This study explored such association in the two populations. Genotyping of the CYP26A1 rs2068888 SNP was performed in 833 unrelated individuals of Maonan and 701 participants of Han by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and confirmed by direct sequencing. The genotypic and allelic frequencies of the CYP26A1 rs2068888 SNP were significantly different between the Maonan and Han. The frequencies of AA, AG and GG genotypes were 75.51%, 23.41% and 1.08% in the Maonan population, and 64.62%, 33.10% and 2.28% in the Han population (P < 0.001). The frequency of the G allele was 12.78% in Maonan and 18.83% in Han (P < 0.001). The level of serum total cholesterol (TC) was lower in Maonan than in Han. The G allele carriers had higher serum TC level in Maonan than the G allele non-carriers. Subgroup analyses indicated that the G allele carriers had higher serum TC level in Maonan females. Serum lipid parameters in the two ethnic groups were also associated with several environmental factors. These findings revealed that there may be a racial/ethnic- and/or sex-specific association between the CYP26A1 rs2068888 SNP and serum lipid parameters in some populations.