Dataset Information

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

ABSTRACT: 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.

SUBMITTER: Gao H

PROVIDER: S-EPMC6962873 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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

Gao Hui H Yin Rui-Xing RX Zhang Qing-Hui QH Qiu Ling L Khounphinith Eksavang E Wang Duo-Shun DS Li Kai-Guang KG

International journal of clinical and experimental pathology 20180701 7

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 restri ...[more]

PMID: 31949728

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Project description:African American (AA) smokers are at a higher risk of developing lung cancer compared to whites. The variations in the metabolism of nicotine and tobacco-derived carcinogens in these groups were reported previously with the levels of nicotine metabolites and carcinogen-derived metabolites measured using targeted approaches. While useful, these targeted strategies are not able to detect global metabolic changes for use in predicting the detrimental effects of tobacco use and ultimately lung cancer susceptibility among smokers. To address this limitation, we have performed global untargeted metabolomics profiling in urine of AA and white smokers to characterize the pattern of metabolites, identify differentially regulated pathways, and correlate these profiles with the observed variations in lung cancer risk between these two populations. Urine samples from AA (n = 30) and white (n = 30) smokers were used for metabolomics analysis acquired in both positive and negative electrospray ionization modes. LC-MS data were uploaded onto the cloud-based XCMS online (http://xcmsonline.scripps.edu) platform for retention time correction, alignment, feature detection, annotation, statistical analysis, data visualization, and automated systems biology pathway analysis. The latter identified global differences in the metabolic pathways in the two groups including the metabolism of carbohydrates, amino acids, nucleotides, fatty acids, and nicotine. Significant differences in the nicotine degradation pathway (cotinine glucuronidation) in the two groups were observed and confirmed using a targeted LC-MS/MS approach. These results are consistent with previous studies demonstrating AA smokers with lower glucuronidation capacity compared to whites. Furthermore, the d-glucuronate degradation pathway was found to be significantly different between the two populations, with lower amounts of the putative metabolites detected in AA compared to whites. We hypothesize that the differential regulation of the d-glucuronate degradation pathway is a consequence of the variations in the glucuronidation capacity observed in the two groups. Other pathways including the metabolism of amino acids, nucleic acids, and fatty acids were also identified, however, the biological relevance and implications of these differences across ethnic groups need further investigation. Overall, the applied metabolomics approach revealed global differences in the metabolic networks and endogenous metabolites in AA and whites, which could be used and validated as a new potential panel of biomarkers that could be used to predict lung cancer susceptibility among smokers in population-based studies.

Dataset Information

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

Publications

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

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