Dataset Information

Association of CPS1 rs1047891 SNP and serum lipid levels in two Chinese ethnic groups.

ABSTRACT: Carbamoyl-phosphate synthase 1 gene (CPS1) rs1047891 single nucleotide polymorphism (SNP) has been associated with a number of metabolic disorders including obesity, insulin resistance, and hyperhomocysteine (HCY). Studies on association between this SNP and prevalence of dyslipidemia have been few, with no report from Chinese subjects. This study was to investigate association of rs1047891 SNP and several environment factors with serum lipid levels in Chinese Han and Maonan populations. Genotypes of rs1047891 SNP in 810 individuals of Maonan and 795 participants of Han nationality were determined by polymerase chain reaction-restriction fragment length polymorphism and then confirmed by direct sequencing. Frequencies of CC, CA, and AA genotypes were 71.32%, 25.16%, and 3.52% in Han and 61.36%, 31.85%, and 6.79% in Maonan populations (P < 0.01), respectively. The frequency of A allele was 16.10% in Han and 22.72% in Maonan individuals (P < 0.001), respectively. Subjects with CA/AA genotypes had lower high-density lipoprotein cholesterol (HDL-C) and apolipoprotein (Apo) A1 levels in Han. They had higher low-density lipoprotein cholesterol (LDL-C) levels and lower HDL-C levels in Maonan than subjects with CC genotype (P < 0.05-0.01). Subgroup analyses revealed that subjects with CA/AA genotypes had lower HDL-C and ApoA1 levels in Han females, higher LDL-C levels in Maonan males, and lower HDL-C levels in both Maonan males and females than subjects with CC genotype (P < 0.05-0.01). Serum lipid parameters were also correlated with several environmental factors in both ethnic groups. The difference in serum lipid profiles between Han and Maonan populations may partly result from different polymorphisms of CPS1 rs1047891 and SNP-enviromental interactions.

SUBMITTER: Yang S

PROVIDER: S-EPMC6958253 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Association of <i>CPS1</i> rs1047891 SNP and serum lipid levels in two Chinese ethnic groups.

Yang Shuo S Yin Rui-Xing RX Miao Liu L Zhang Qing-Hui QH Zhou Yong-Gang YG Wu Jie J

International journal of clinical and experimental pathology 20180501 5

Carbamoyl-phosphate synthase 1 gene (<i>CPS1</i>) rs1047891 single nucleotide polymorphism (SNP) has been associated with a number of metabolic disorders including obesity, insulin resistance, and hyperhomocysteine (HCY). Studies on association between this SNP and prevalence of dyslipidemia have been few, with no report from Chinese subjects. This study was to investigate association of rs1047891 SNP and several environment factors with serum lipid levels in Chinese Han and Maonan populations. ...[more]

PMID: 31938413

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Project description: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.

Project description:BACKGROUND: Niemann-pick C1-like 1 (NPC1L1) is a key protein for intestinal cholesterol transportation. Common single nucleotide polymorphisms (SNPs) in the NPC1L1 gene have been associated with cholesterol absorption and serum lipid levels. The present study was undertaken to explore the possible association of NPC1L1 rs2072183 1735?C?>?G SNP and several environmental factors with serum lipid levels in the Mulao and Han populations. METHODS: Genotyping of the rs2072183 SNP was performed in 688 subjects of Mulao and 738 participants of Han Chinese. The interactions between NPC1L1 1735?C?>?G polymorphism and several environmental factors on serum lipid phenotypes were tested using the factorial design covariance analysis after controlling for potential confounders. RESULTS: The frequency of G allele was lower in Mulao than in Han (29.72% vs. 37.26%, P?<?0.001). The frequency of CC, CG and GG genotypes was 49.85%, 40.84% and 9.31% in Mulao, and 39.30%, 46.88% and 13.82% in Han (P?<?0.001); respectively. The levels of low-density lipoprotein cholesterol (LDL-C), apolipoprotein (Apo) B and the ratio of ApoAI/ApoB in Han but not in Mulao were different among the three genotypes (P?<?0.05 for all), the subjects with GG and CG genotypes had higher LDL-C, ApoB levels and lower ApoAI/ApoB ratio than the subjects with CC genotype. Subgroup analysis showed that the G allele carriers in Han had higher total cholesterol (TC), LDL-C and ApoB levels in males (P?<?0.05) and lower ApoAI/ApoB ratio in both sexes (P?<?0.05) than the G allele noncarriers. The G allele carriers in Mulao had higher TC and LDL-C levels in males (P?<?0.05) and lower high-density lipoprotein cholesterol (HDL-C) levels in both sexes (P?<?0.05) than the G allele noncarriers. Serum TC, LDL-C, ApoB levels and ApoAI/ApoB ratio were correlated with genotypes in Han males (P?<?0.05) but not in females. Serum lipid parameters were also correlated with several environmental factors. The genotypes of rs2072183 SNP were interacted with gender or cigarette smoking to influence serum TC and HDL-C levels in Mulao, whereas the genotypes of rs2072183 SNP were interacted with several environmental factors to influence all seven lipid traits in Han (P?<?0.05-0.01). CONCLUSIONS: The present study suggests that the rs2072183 SNP in NPC1L1 gene and its association with serum lipid profiles are different between the Mulao and Han populations. The difference in serum lipid profiles between the two ethnic groups might partly result from different rs2072183 SNP or NPC1L1 gene-environmental interactions.

Dataset Information

Association of CPS1 rs1047891 SNP and serum lipid levels in two Chinese ethnic groups.

Publications

Association of <i>CPS1</i> rs1047891 SNP and serum lipid levels in two Chinese ethnic groups.

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