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Article

Polymorphisms of the Niemann-Pick C1‑like 1 gene in a Japanese population

  • Authors:
    • Rie Osaki
    • Hirotsugu Imaeda
    • Kenichiro Takahashi
    • Takehide Fujimoto
    • Takayuki Takeuchi
    • Yoshihide Fujiyama
    • Akira Andoh
  • View Affiliations / Copyright

    Affiliations: Department of Medicine, Shiga University of Medical Science, Seta Tukinowa, Otsu, Japan, Division of Mucosal Immunology, Graduate School, Shiga University of Medical Science, Seta Tukinowa, Otsu, Japan, Department of Medicine, Notogawa Hospital, Higashioumi, Japan
  • Pages: 156-160
    |
    Published online on: October 17, 2012
       https://doi.org/10.3892/br.2012.24
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Abstract

The Niemann-Pick C1 like 1 (NPC1L1) protein is a polytopic transmembrane protein responsible for dietary cholesterol absorption. Genetic variation in the NPC1L1 gene affects cholesterol absorption and serum cholesterol levels. However, NCP1L1 genotypes have not previously been invesigated. In this study, genotyping of the NPC1L1 gene was examined in healthy individuals as well as patients with hepatitis C virus (HCV) and inflammatory bowel disease (IBD). A total of 541 individuals were enrolled in the study, including 80 patients with HCV hepatitis, 205 with ulcerative colitis (UC) and 127 with Crohn's disease (CD). Genotyping was performed using TaqMan® SNP assays. Minor allelic frequencies of the 17345C>G (rs2072183) and 19031G>A (rs4720470) SNPs were found to be 0.40 and 0.30, respectively. No significant differences were detected in serum HCV levels in the 1735C>G or 19031G>A SNPs. The 1735C>G SNPs were not associated with total cholesterol (TC) levels in the healthy controls and/or HCV patients. However, statistically significant associations between the 1735GG variant and TC levels were detected in CD patients, with 1735GG carriers having the highest TC levels compared to the 1735CC and 1735CG carriers (P=0.048). Similar trends were noted in UC patients, but did not reach statistical significance (P=0.19). The 19031G>A SNPs were not associated with TC levels in the healthy controls or patients. This study showed the allelic and genotypic distribution of 1735C>G and 19031G>ASNPs of the NPC1L1 gene in a large number of subjects. The NPC1L1 1735GG variant may therefore be favorable for CD accompanied with malnutrition.
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1. 

Roger VL, Go AS, Lloyd-Jones DM, et al: Heart disease and stroke statistics - 2011 update: a report from the American Heart Association. Circulation. 123:e18–e209. 2011. View Article : Google Scholar : PubMed/NCBI

2. 

Roger VL, Go AS, Lloyd-Jones DM, et al: Heart disease and stroke statistics - 2012 update: a report from the American Heart Association. Circulation. 125:e2–e220. 2012. View Article : Google Scholar : PubMed/NCBI

3. 

Goldstein JL and Brown MS: Regulation of the mevalonate pathway. Nature. 343:425–430. 1990. View Article : Google Scholar : PubMed/NCBI

4. 

Wang LJ and Song BL: Niemann-Pick C1-Like 1 and cholesterol uptake. Biochim Biophys Acta. 1821:964–972. 2012. View Article : Google Scholar : PubMed/NCBI

5. 

Altmann SW, Davis HR Jr, Zhu LJ, et al: Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption. Science. 303:1201–1204. 2004. View Article : Google Scholar : PubMed/NCBI

6. 

Betters JL and Yu L: NPC1L1 and cholesterol transport. FEBS Lett. 584:2740–2747. 2010. View Article : Google Scholar : PubMed/NCBI

7. 

Jia L, Betters JL and Yu L: Niemann-pick C1-like 1 (NPC1L1) protein in intestinal and hepatic cholesterol transport. Annu Rev Physiol. 73:239–259. 2011. View Article : Google Scholar : PubMed/NCBI

8. 

Suchy D, Labuzek K, Stadnicki A and Okopien B: Ezetimibe - a new approach in hypercholesterolemia management. Pharmacol Rep. 63:1335–1348. 2011. View Article : Google Scholar : PubMed/NCBI

9. 

Xie C, Zhou ZS, Li N, et al: Ezetimibe blocks the internalization of NPC1L1 and cholesterol in mouse small intestine. J Lipid Res. 2092–2101. 2012. View Article : Google Scholar : PubMed/NCBI

10. 

Yu L, Bharadwaj S, Brown JM, et al: Cholesterol-regulated translocation of NPC1L1 to the cell surface facilitates free cholesterol uptake. J Biol Chem. 281:6616–6624. 2006. View Article : Google Scholar : PubMed/NCBI

11. 

Sainz B Jr, Barretto N, Martin DN, et al: Identification of the Niemann-Pick C1-like 1 cholesterol absorption receptor as a new hepatitis C virus entry factor. Nat Med. 18:281–285. 2012. View Article : Google Scholar : PubMed/NCBI

12. 

Simon JS, Karnoub MC, Devlin DJ, et al: Sequence variation in NPC1L1 and association with improved LDL-cholesterol lowering in response to ezetimibe treatment. Genomics. 86:648–656. 2005. View Article : Google Scholar : PubMed/NCBI

13. 

Wang J, Williams CM and Hegele RA: Compound heterozygosity for two non-synonymous polymorphisms in NPC1L1 in a non-responder to ezetimibe. Clin Genet. 67:175–177. 2005. View Article : Google Scholar : PubMed/NCBI

14. 

Livak KJ: Allelic discrimination using fluorogenic probes and the 5′ nuclease assay. Genet Anal. 14:143–149. 1999.

15. 

Ray K: Hepatitis: NPC1L1 identified as a novel HCV entry factor. Nat Rev Gastroenterol Hepatol. 9:1242012. View Article : Google Scholar : PubMed/NCBI

16. 

Wang LJ, Wang J, Li N, Ge L, Li BL and Song BL: Molecular characterization of the NPC1L1 variants identified from cholesterol low absorbers. J Biol Chem. 286:7397–7408. 2011. View Article : Google Scholar : PubMed/NCBI

17. 

Polisecki E, Peter I, Simon JS, et al: Genetic variation at the NPC1L1 gene locus, plasma lipoproteins, and heart disease risk in the elderly. J Lipid Res. 51:1201–1207. 2010. View Article : Google Scholar : PubMed/NCBI

18. 

Cohen JC, Pertsemlidis A, Fahmi S, et al: Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci USA. 103:1810–1815. 2006. View Article : Google Scholar : PubMed/NCBI

19. 

Fahmi S, Yang C, Esmail S, Hobbs HH and Cohen JC: Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes. Hum Mol Genet. 17:2101–2107. 2008. View Article : Google Scholar : PubMed/NCBI

20. 

Maeda T, Honda A, Ishikawa T, et al: A SNP of NPC1L1 affects cholesterol absorption in Japanese. J Atheroscler Thromb. 17:356–360. 2010. View Article : Google Scholar : PubMed/NCBI

21. 

Hegele RA, Guy J, Ban MR and Wang J: NPC1L1 haplotype is associated with inter-individual variation in plasma low-density lipoprotein response to ezetimibe. Lipids Health Dis. 4:162005. View Article : Google Scholar : PubMed/NCBI

22. 

Chen CW, Hwang JJ, Tsai CT, et al: The g.-762T>C polymorphism of the NPC1L1 gene is common in Chinese and contributes to a higher promoter activity and higher serum cholesterol levels. J Hum Genet. 54:242–247. 2009.

23. 

Teslovich TM, Musunuru K, Smith AV, et al: Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 466:707–713. 2010. View Article : Google Scholar : PubMed/NCBI

24. 

Zhao HL, Houweling AH, Vanstone CA, et al: Genetic variation in ABC G5/G8 and NPC1L1 impact cholesterol response to plant sterols in hypercholesterolemic men. Lipids. 43:1155–1164. 2008. View Article : Google Scholar : PubMed/NCBI

25. 

Lomer MC: Dietary and nutritional considerations for inflammatory bowel disease. Proc Nutr Soc. 70:329–335. 2011. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Osaki R, Imaeda H, Takahashi K, Fujimoto T, Takeuchi T, Fujiyama Y and Andoh A: Polymorphisms of the Niemann-Pick C1‑like 1 gene in a Japanese population. Biomed Rep 1: 156-160, 2013.
APA
Osaki, R., Imaeda, H., Takahashi, K., Fujimoto, T., Takeuchi, T., Fujiyama, Y., & Andoh, A. (2013). Polymorphisms of the Niemann-Pick C1‑like 1 gene in a Japanese population. Biomedical Reports, 1, 156-160. https://doi.org/10.3892/br.2012.24
MLA
Osaki, R., Imaeda, H., Takahashi, K., Fujimoto, T., Takeuchi, T., Fujiyama, Y., Andoh, A."Polymorphisms of the Niemann-Pick C1‑like 1 gene in a Japanese population". Biomedical Reports 1.1 (2013): 156-160.
Chicago
Osaki, R., Imaeda, H., Takahashi, K., Fujimoto, T., Takeuchi, T., Fujiyama, Y., Andoh, A."Polymorphisms of the Niemann-Pick C1‑like 1 gene in a Japanese population". Biomedical Reports 1, no. 1 (2013): 156-160. https://doi.org/10.3892/br.2012.24
Copy and paste a formatted citation
x
Spandidos Publications style
Osaki R, Imaeda H, Takahashi K, Fujimoto T, Takeuchi T, Fujiyama Y and Andoh A: Polymorphisms of the Niemann-Pick C1‑like 1 gene in a Japanese population. Biomed Rep 1: 156-160, 2013.
APA
Osaki, R., Imaeda, H., Takahashi, K., Fujimoto, T., Takeuchi, T., Fujiyama, Y., & Andoh, A. (2013). Polymorphisms of the Niemann-Pick C1‑like 1 gene in a Japanese population. Biomedical Reports, 1, 156-160. https://doi.org/10.3892/br.2012.24
MLA
Osaki, R., Imaeda, H., Takahashi, K., Fujimoto, T., Takeuchi, T., Fujiyama, Y., Andoh, A."Polymorphisms of the Niemann-Pick C1‑like 1 gene in a Japanese population". Biomedical Reports 1.1 (2013): 156-160.
Chicago
Osaki, R., Imaeda, H., Takahashi, K., Fujimoto, T., Takeuchi, T., Fujiyama, Y., Andoh, A."Polymorphisms of the Niemann-Pick C1‑like 1 gene in a Japanese population". Biomedical Reports 1, no. 1 (2013): 156-160. https://doi.org/10.3892/br.2012.24
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