Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride

Journal of Human Genetics

Volumn 61, Issue 5, 2016, Pages 427-433

  Kurano, Makoto ^a   Tsukamoto, Kazuhisa ^b   Kamitsuji, Shigeo ^c   Kamatani, Naoyuki ^c   Hara, Masumi ^d   Ishikawa, Toshio ^d   Kim, Bong Jo ^e   Moon, Sanghoon ^e   Kim, Young Jin ^e   Teramoto, Tamio ^d  

^a UNIVERSITY OF TOKYO   (Japan)

^b FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^c Kuramae Orashion Bldg 9F   (Japan)

^d TEIKYO UNIVERSITY   (Japan)

^e Korea National Institute of Health   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID; LOW DENSITY LIPOPROTEIN CHOLESTEROL; PHOSPHOLIPID; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 7; SERINE PROTEINASE; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; PCSK7 PROTEIN, HUMAN; SUBTILISIN;

ARTICLE; FEMALE; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC DATABASE; GENOME-WIDE ASSOCIATION STUDY; HUMAN; JAPANESE (PEOPLE); LIPID BLOOD LEVEL; MALE; NORMAL HUMAN; REPLICATION STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; BLOOD; GENETICS; GENOTYPE; HEALTH SURVEY; PHENOTYPE;

FEMALE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HEALTHY VOLUNTEERS; HUMANS; LIPIDS; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; POPULATION SURVEILLANCE; SUBTILISINS; TRIGLYCERIDES;

EID: 84971330664     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.170     Document Type: Article

References (36)

1. Pilia, G., Chen, W. M., Scuteri, A., Orru, M., Albai, G., Dei, M., et al. Heritability of cardiovascular and personality traits in 6, 148 Sardinians. PLoS Genet. 2, e132 (2006
2. Brown, M. S., & Goldstein, J. L. Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man. Science 185, 61-63 (1974
3. Inazu, A., Jiang, X. C., Haraki, T., Yagi, K., Kamon, N., Koizumi, J., et al. Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol. J. Clin. Invest. 94, 1872-1882 (1994
4. Willer, C. J., Sanna, S., Jackson, A. U., Scuteri, A., Bonnycastle, L. L., Clarke, R., et al. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat. Genet. 40, 161-169 (2008
5. Kathiresan, S., Melander, O., Guiducci, C., Surti, A., Burtt, N. P., Rieder, M. J., et al. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat. Genet. 40, 189-197 (2008
6. Sandhu, M. S., Waterworth, D. M., Debenham, S. L., Wheeler, E., Papadakis, K., Zhao, J. H., et al. LDL-cholesterol concentrations: a genome-wide association study. Lancet 371, 483-491 (2008
7. Chasman, D. I., Pare, G., Zee, R. Y., Parker, A. N., Cook, N. R., Buring, J. E., et al. Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication. Circ. Cardiovasc. Genet. 1, 21-30 (2008
8. Aulchenko, Y. S., Ripatti, S., Lindqvist, I., Boomsma, D., Heid, I. M., Pramstaller, P. P., et al. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat. Genet. 41, 47-55 (2009
9. Hicks, A. A., Pramstaller, P. P., Johansson, A., Vitart, V., Rudan, I., Ugocsai, P., et al. Genetic determinants of circulating sphingolipid concentrations in European populations. PLoS Genet. 5, e1000672 (2009
10. Chasman, D. I., Pare, G., Mora, S., Hopewell, J. C., Peloso, G., Clarke, R., et al. Fortythree loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. PLoS Genet. 5, e1000730 (2009
11. Kathiresan, S., Willer, C. J., Peloso, G. M., Demissie, S., Musunuru, K., Schadt, E. E., et al. Common variants at 30 loci contribute to polygenic dyslipidemia. Nat. Genet. 41, 56-65 (2009
12. Teslovich, T. M., Musunuru, K., Smith, A. V., Edmondson, A. C., Stylianou, I. M., Koseki, M., et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466, 707-713 (2010
13. Lemaitre, R. N., Tanaka, T., Tang, W., Manichaikul, A., Foy, M., Kabagambe, E. K., et al. Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. PLoS Genet. 7, e1002193 (2011
14. Kim, Y. J., Go, M. J., Hu, C., Hong, C. B., Kim, Y. K., Lee, J. Y., et al. Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. Nat. Genet. 43, 990-995 (2011
15. Willer, C. J., Schmidt, E. M., Sengupta, S., Peloso, G. M., Gustafsson, S., Kanoni, S., et al. Discovery and refinement of loci associated with lipid levels. Nat. Genet. 45, 1274-1283 (2013
16. Burkhardt, R., Toh, S. A., Lagor, W. R., Birkeland, A., Levin, M., Li, X., et al. Trib1 is a lipid-and myocardial infarction-associated gene that regulates hepatic lipogenesis and VLDL production in mice. J. Clin. Invest. 120, 4410-4414 (2010
17. Braun, T. R., Been, L. F., Singhal, A., Worsham, J., Ralhan, S., Wander, G. S., et al. A replication study of GWAS-derived lipid genes in Asian Indians: the chromosomal region 11q23.3 harbors loci contributing to triglycerides. PLoS ONE. 7, e37056 (2012
18. Chung, S. K., Yu, H., Park, A. Y., Kim, J. Y., & Cha, S. Genetic loci associated with changes in lipid levels leading to constitution-based discrepancy in Koreans. BMC Complement. Altern. Med. 14, 230 (2014
19. Kamitsuji, S., Matsuda, T., Nishimura, K., Endo, S., Wada, C., Watanabe, K., et al. Japan PGx Data Science Consortium Database: SNPs and HLA genotype data from 2994 Japanese healthy individuals for pharmacogenomics studies. J. Hum. Genet. 60, 319-326 (2015
20. Tohkin, M., Kaniwa, N., Saito, Y., Sugiyama, E., Kurose, K., Nishikawa, J., et al. A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients. Pharmacogenomics J. 13, 60-69 (2013
21. Kaniwa, N., Sugiyama, E., Saito, Y., Kurose, K., Maekawa, K., Hasegawa, R., et al. Specific HLA types are associated with antiepileptic drug-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese subjects. Pharmacogenomics 14, 1821-1831 (2013
22. Chung, W. H., Chang, W. C., Lee, Y. S., Wu, Y. Y., Yang, C. H., Ho, H. C., et al. Genetic variants associated with phenytoin-related severe cutaneous adverse reactions. JAMA 312, 525-534 (2014
23. Khor, S. S., Yang, W., Kawashima, M., Kamitsuji, S., Zheng, X., Nishida, N., et al. High-accuracy imputation for HLA class I and II genes based on high-resolution SNP data of population-specific references. Pharmacogenomics J. 15, 530-537 (2015
24. Sano, M., Kamitsuji, S., Kamatani, N., Hong, K. W., Han, B. G., Kim, Y., et al. Genomewide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations. Hum. Mol. Genet. 23, 6668-6676 (2014
25. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A., Bender, D., et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007
26. Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet. 38, 904-909 (2006
27. Kettunen, J., Tukiainen, T., Sarin, A. P., Ortega-Alonso, A., Tikkanen, E., Lyytikainen, L. P., et al. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. Nat. Genet. 44, 269-276 (2012
28. Peloso, G. M., Auer, P. L., Bis, J. C., Voorman, A., Morrison, A. C., Stitziel, N. O., et al. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56, 000 whites and blacks. Am. J. Hum. Genet. 94, 223-232 (2014
29. Willer, C. J., & Mohlke, K. L. Finding genes and variants for lipid levels after genomewide association analysis. Curr. Opin. Lipidol. 23, 98-103 (2012
30. Abifadel, M., Varret, M., Rabes, J. P., Allard, D., Ouguerram, K., Devillers, M., et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat. Genet. 34, 154-156 (2003
31. Timms, K. M., Wagner, S., Samuels, M. E., Forbey, K., Goldfine, H., Jammulapati, S., et al. A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum. Genet. 114, 349-353 (2004
32. Shioji, K., Mannami, T., Kokubo, Y., Inamoto, N., Takagi, S., Goto, Y., et al. Genetic variants in PCSK9 affect the cholesterol level in Japanese. J. Hum. Genet. 49, 109-114 (2004
33. Seidah, N. G., Hamelin, J., Mamarbachi, M., Dong, W., Tardos, H., Mbikay, M., et al. cDNA structure, tissue distribution, and chromosomal localization of rat PC7, a novel mammalian proprotein convertase closest to yeast kexin-like proteinases. Proc. Natl Acad. Sci. USA 93, 3388-3393 (1996
34. Scamuffa, N., Calvo, F., Chretien, M., Seidah, N. G., & Khatib, A. M. Proprotein convertases: lessons from knockouts. FASEB J. 20, 1954-1963 (2006
35. Wetsel, W. C., Rodriguiz, R. M., Guillemot, J., Rousselet, E., Essalmani, R., Kim, I. H., et al. Disruption of the expression of the proprotein convertase PC7 reduces BDNF production and affects learning and memory in mice. Proc. Natl Acad. Sci. USA 110, 17362-17367 (2013
36. Oexle, K., Ried, J. S., Hicks, A. A., Tanaka, T., Hayward, C., Bruegel, M., et al. Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. Hum. Mol. Genet. 20, 1042-1047 (2011