XKR6 rs7014968 SNP Increases Serum Total Cholesterol Levels and the Risk of Coronary Heart Disease and Ischemic Stroke.

The X Kell blood group complex subunit-related family member 6 (XKR6) gene single-nucleotide polymorphisms (SNPs) have been associated with serum lipid profiles and the risk of coronary heart disease (CHD) and ischemic stroke (IS) in several previous studies, but the association between the XKR6 rs7014968 SNP and serum lipid levels and the risk of CHD and IS has not been detected previously. This study aims to explore the association between the XKR6 rs7014968 SNP and serum lipid traits and the susceptibility to CHD and IS in the Guangxi Han Chinese population. Snapshot technology was used to determine the genotypes of the XKR6 rs7014968 SNP in 624 controls, 588 patients with CHD, and 544 patients with IS. The XKR6 rs7014968C allele carriers in the control group had higher serum total cholesterol (TC) levels than the C allele noncarriers (P = .025). The XKR6 rs7014968C allele carriers also had an increased risk of CHD and IS (P < .05-.01). Stratified analysis showed that the patients with the rs7014968C allele in the female, age >60 years, body mass index (BMI) >24 kg/m2, and hypertension subgroups had a higher risk of CHD than those in the subgroup counterparts. The patients with the rs7014968C allele in the male, BMI > 24 kg/m2, smoker, and hypertension subgroups also had a higher risk of IS than those in the subgroup counterparts. These results suggest that the XKR6 rs7014968 SNP is likely to increase the risk of CHD and IS by increasing serum TC levels in our study 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 between the MVK rs2287218 SNP and the risk of coronary heart disease and ischemic stroke: A case-control study.

The association between the mevalonate kinase gene (MVK) single nucleotide polymorphism (SNP) and serum lipid levels has been detected in several previous genome-wide association studies, but the results are inconsistent. In addition, it is still unclear whether the loci indentified exert the similar effect on the susceptibility of coronary heart disease (CHD) or ischemic stroke (IS). Therefore, the present study was undertaken to detect the association between the MVK rs2287218 SNP and serum lipid levels, the susceptibility of CHD and IS in a Southern Chinese Han population. The genotypes of the SNP in 1764 unrelated subjects (CHD, 583; IS, 555; and healthy controls, 626) were determined by the Snapshot technology. The genotypic and allelic frequencies were different between CHD and control subjects (P ≤ 0.013 for each), or between IS and control groups (P < 0.01 for each). The T allele carriers had an increased risk of CHD and IS (CHD: OR = 1.674, 95%CI = 1.25-2.25, P = 0.001 for CT/TT vs. CC genotypes; OR = 1.595, 95%CI = 1.23-2.07, P < 0.001 for T vs. C alleles; IS: OR = 1.890, 95%CI = 1.36-2.47, P = 0.001 for CT/TT vs. CC genotypes; OR = 1.829, 95%CI = 1.38-2.42, P < 0.001 for T vs. C alleles). The T allele carriers in healthy controls had lower serum high-density lipoprotein cholesterol (HDL-C) levels than the T allele non-carriers (P = 0.013). These findings suggest that the MVK rs2287218 SNP is likely to increase the risk of CHD and IS by decreasing serum HDL-C levels in our study populations.

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.