Lipoprotein Lipase Variants Associated With an Endophenotype of Hypertension: Hypertension Combined With Elevated Triglycerides

被引：11

作者：

Chen, Pei ^{[1
]}

Jou, Yuh-Shan ^{[1
]}

Fann, Cathy S. J. ^{[1
]}

Chen, Jaw-Wen ^{[2
,3
]}

Chung, Chia-Min ^{[1
]}

Lin, Chin-Yu ^{[1
]}

Wu, Sheng-Yeu ^{[1
]}

Kang, Mei-Jyh ^{[1
]}

Chen, Ying-Chuang ^{[1
]}

Jong, Yuh-Shiun ^{[4
]}

Lo, Huey-Ming ^{[4
]}

Kang, Chih-Sen ^{[5
]}

Chen, Chien-Chung ^{[6
]}

Chan, Huan-Cheng ^{[6
]}

Huang, Nai-Kuei ^{[7
]}

Wu, Yi-Lin ^{[1
]}

Pan, Wen-Harn ^{[1
]}

机构：

[1] Acad Sinica, Inst Biomed Sci, Taipei 11529, Taiwan

[2] Natl Yang Ming Univ, Taipei Vet Gen Hosp, Dept Cardiol, Taipei 112, Taiwan

[3] Natl Yang Ming Univ, Cardiovasc Res Ctr, Taipei 112, Taiwan

[4] Tao Yuan Gen Hosp, Dept Hlth, Dept Cardiol, Tao Yuan, Taiwan

[5] Min Sheng Hosp, Dept Cardiol, Tao Yuan, Taiwan

[6] Li Shin Hosp, Dept Cardiol, Tao Yuan, Taiwan

[7] Natl Res Inst Chinese Med, Taipei, Taiwan

来源：

HUMAN MUTATION | 2009年 / 30卷 / 01期

关键词：

young-onset hypertension; endophenotype; LPL; linkage disequilibrium; haplotype; CORONARY-ARTERY-DISEASE; BLOOD-PRESSURE; GENE; LINKAGE; TAIWAN; FAMILIES; INTRONS; REGION;

D O I：

10.1002/humu.20812

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Previously, we observed that young onset hypertension was independently associated with elevated plasma triglyceride(s) (TG) levels to a greater extent than other metabolic risk factors. Thus, focusing on the endophenotype-hypertension combined with elevated TG-we designed a family-based haplotype association study to explore its genetic connection with novel genetic variants of lipoprotein lipase gene (LPL), which encodes a major lipid metabolizing enzyme. Young onset hypertension probands and their families were recruited, numbering 1,002 individuals from 345 families. Single-nucleotide polymorphism discovery for LPL, linkage disequilibrium (LD) analysis, transmission disequilibrium tests (TDT), bin construction, haplotype TDT association and logistic regression analysis were per. formed. We found that the CC- haplotype (i) spanning from intron 2 to intron 4 and the ACATT haplotype (ii) spanning from intron 5 to intron 6 were significantly associated with hypertension-related phenotypes: hypertension (ii, P = 0.05), elevated TG (i, P = 0.01), and hypertension combined with elevated TG 6, P = 0.001; ii, P < 0.0001), according to TDT. The risk of this hypertension subtype increased with the number of risk haplotypes in the two loci, using logistic regression model after adjusting within-family correlation. The relationships between LPL variants and hypertension-related disorders were also confirmed by an independent association study. Finally, we showed it trend that individuals with homozygous risk haplotypes had de. creased LPL expression after a fatty meal, as opposed to

引用

页码：49 / 55

页数：7

共 32 条

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