Lipoprotein lipase variants associated with an endophenotype of hypertension: Hypertension combined with elevated triglycerides

Human Mutation

Volumn 30, Issue 1, 2009, Pages 49-55

  Chen, Pei ^a   Jou, Yuh Shan ^a   Fann, Cathy S J ^a   Chen, Jaw Wen ^b   Chung, Chia Min ^a   Lin, Chin Yu ^a   Wu, Sheng Yeu ^a   Kang, Mei Jyh ^a   Chen, Ying Chuang ^a   Jong, Yuh Shiun ^c   Lo, Huey Ming ^c   Kang, Chih Sen ^d   Chen, Chien Chung ^e   Chang, Huan Cheng ^e   Huang, Nai Kuei ^f   Wu, Yi Lin ^a   Pan, Wen Harn ^a  

^a INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c TAO YUAN GENERAL HOSPITAL   (Taiwan)

^d MIN SHENG GENERAL HOSPITAL   (Taiwan)

^e LI SHIN HOSPITAL   (Taiwan)

^f NATIONAL RESEARCH INSTITUTE OF CHINESE MEDICINE   (Taiwan)

Author keywords

Endophenotype; Haplotype; Linkage disequilibrium; LPL; Young onset hypertension

Indexed keywords

LIPOPROTEIN LIPASE; TRIACYLGLYCEROL;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HYPERTENSION; INTRON; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AGE OF ONSET; CASE-CONTROL STUDIES; FAMILY HEALTH; GENETIC VARIATION; GENOTYPE; HAPLOTYPES; HUMANS; HYPERTENSION; HYPERTRIGLYCERIDEMIA; INTRONS; LINKAGE DISEQUILIBRIUM; LIPOPROTEIN LIPASE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; TAIWAN; TRIGLYCERIDES;

EID: 58349103331     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20812     Document Type: Article

References (32)

1. Barrett JC, Fry B, Maller J, Daly MJ. 2005. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265.
2. Chen JW, Wu SY, Pan WH. 2004. Clinical characteristics of young-onset hypertension - implications for different genders. Int J Cardiol 96:65-71.
3. Chen P, Jou YS, Fann CSJ, Chen JW, Wu SY, Pan WH. 2005. Lipoprotein lipase gene is linked and associated with hypertension in Taiwan young-onset hypertension genetic study. J Biomed Sci 12:651-658.
4. Clark AG, Weiss KM, Nickerson DA, Taylor SL, Buchanan A, Stengård J, Salomaa V, Vartiainen E, Perola M, Boerwinkle E, Sing CF. 1998. Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am J Hum Genet 63:595-612.
5. Clayton D, Jones H. 1999. Transmission/disequilibrium test for extended marker haplotypes. Am J Hum Genet 65:1161-1169.
6. den Boer M, Voshol PJ, Kuipers F, Havekes LM, Romijn JA. 2004. Hepatic steatosis: a mediator of the metabolic syndrome. Lessons from animal models. Arterioscler Thromb Vasc Biol 24:644-649.
7. Fedorova L, Fedorov A. 2003. Introns in gene evolution. Genetica 118:123-131.
8. Grundy SM. 2004. Obesity, metabolic syndrome, and cardiovascular disease. J Clin Endocrinol Metab 89:2595-2600.
9. Hopkins PN, Heiss G, Ellison RC, Province MA, Pankow JS, Eckfeldt JH, Hunt SC. 2003. Coronary artery disease risk in familial combined hyperlipidemia and familial hypertriglyceridemia: a case-control comparison from the National Heart, Lung, and Blood Institute Family Heart Study. Circulation 108:519-523.
10. Hwu CM, Kwok CF, Kuo CS, Hsiao LC, Lee YS, Wei MJ, Kao WY, Lee SH, Ho LT. 2002. Exacerbation of insulin resistance and postprandial triglyceride response in newly diagnosed hypertensive patients with hypertriglyceridaemia. J Hum Hypertens 16:487-493.
11. Lalouel JM. 2003. Large-scale search for genes predisposing to essential hypertension. Am J Hypertens 16:163-166.
12. Lee WK, Padmanabhan S, Dominiczak AF. 2000. Genetics of hypertension: from experimental models to clinical applications. J Hum Hypertens 14:631-647.
13. Mead JR, Irvine SA, Ramji DP. 2002. Lipoprotein lipase: structure function, regulation, and role in disease. J Mol Med 80:753-769.
14. Merkel M, Eckel RH, Goldberg IJ. 2002. Lipoprotein lipase: genetics, lipid uptake, and regulation. J Lipid Res 43:1997-2006.
15. NCEP Expert. 2002. Third Report of National Cholesterol Education Program (NCEP) expert panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III). Final report. Circulation 106:3143-3421.
16. Nickerson DA, Taylor SL, Weiss KM, Clark AG, Hutchinson RG, Stengård J, Salomaa V, Vartiainen E, Boerwinkle E, Sing CF. 1998. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nat Genet 19:233-240.
17. Pagani F, Baralle FE. 2004. Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet 5:389-396.
18. Pan WH, Chen YC, Yu SL, Sun JA, Chang YS, Chen CJ. 1994. Correlates and predictive models for blood pressure values in residents of two communities in Taiwan. J Formos Med Assoc 93:582-591.
19. Pan WH, Chen JW, Fann C, Jou YS, Wu SY. 2000. Linkage analysis with candidate genes: the Taiwan young-onset hypertension genetic study. Hum Genet 107:210-215.
20. Pan WH, Fann CJS, Wu JY, Hung YT, Ho MS, Ta TH, Chen YJ, Liao CJ, Yang ML, Cheng ATA, Chen YT. 2006a. Han Chinese Cell and Genome bank in Taiwan: purpose, design and ethical considerations. Hum Hered 61:27-30.
21. Pan WH, Lynn KS, Chen CH, Wu YL, Lin CY, Chang HY. 2006b. Using endophenotypes for pathway clusters to map complex disease genes. Genet Epidemiol 30:143-154.
22. Reaven GM, Lithell H, Landsberg L. 1996. Hypertension and associated metabolic abnormalities - the role of insulin resistance and the sympathoandernal system. N Engl J Med 334:374-381.
23. Shieh SM, Shen M, Fuh MM, Chen YD, Reaven GM. 1987. Plasma lipid and lipoprotein concentration in Chinese males with coronary artery disease, with and without hypertension. Atherosclerosis 67:49-55.
24. Sillanpaa MJ, Auranen K. 2004. Replication in genetic studies of complex traits. Ann Hum Genet 68:646-657.
25. Sobel E, Lange K. 1996. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker sharing statistics. Am J Hum Genet 58:1323-1337.
26. Templeton AR, Clark AG, Weiss KM, Nickerson DA, Boerwinkle E, Sing CF. 2000. Recombinational and mutational hotspots within the human lipoprotein lipase gene. Am J Hum Genet 66:69-83.
27. Williams RR, Hunt SC, Hopkins PN, Stults BM, Wu LL, Hasstedt SJ, Barlow GK, Stephenson SH, Laiouel JM, Kuida H. 1988. Familial dyslipidemic hypertension: evidence from 58 Utah families for a syndrome present in approximately 12% of patients with essential hypertension. JAMA 259:3579-3586.
28. Wu DA, Bu X, Warden CH, Shen DDC, Jeng CY, Sheu WHH, Fuh MMT, Katsuya T, Dzau VJ, Reaven GM, Lusis AJ, Rotter JI, Chen YDI. 1996. Quantitative trait locus mapping of human blood pressure to a genetic region at or near the lipoprotein lipase gene locus on chromosome 8p22. J Clin Invest 97:2111-2118.
29. Yang WJ, Huang JF, Yao CL, Fan ZJ, Ge DL, Gan WQ, Huang GY, Hui RT, Shen Y, Qiang BQ, Gu DF. 2003. Evidence for linkage and association of the markers near the LPL gene with hypertension in Chinese families. J Med Genet 40:e57.
30. Yang WJ, Huang JF, Ge DL, Yao CL, Duan X, Shen Y, Qiang B, Gu DF. 2004. Lipoprotein lipase gene is in linkage with blood pressure phenotypes in Chinese pedigrees. Hum Genet 115:8-12.
31. Yang WJ, Huang JF, Yao CL, Su S, Liu D, Ge DL, Gu DF. 2005. Linkage and linkage disequilibrium analysis of the lipoprotein lipase gene with lipids profile in Chinese hypertensive families. Clin Sci 108:137-142.
32. Zeger SL, Liang KY. 1986. Longitudinal data analysis for discrete and continuous outcomes. Biometrics 42:121-130.