The combination of ApoCIII, hepatic lipase and hormono sensitive lipase gene polymorphisms suggests an association with susceptibility to gestational hypertension.

Abstract:

:Dyslipidemia and insulin resistance contribute to the endothelial cell dysfunction in hypertensive disorders of pregnancy (HDP) and increase the long-term risk of cardiovascular disease (CVD). The genes linking susceptibility to gestational hypertension (GH) and/or preeclampsia (PE) to the long-term risk of CVD are still unknown. We evaluated the potential association between 14 polymorphisms from six genes involved in lipid metabolism and insulin action and the risk of HDP: namely the lipoprotein lipase (LPL), hepatic lipase (LIPC), hormone sensitive lipase (LIPE), cholesteryl ester transfer protein (CETP), ApoCIII and ApoE gene polymorphisms. Overall, 169 women with HDP [proteinuria (PE) and gestational hypertension without proteinuria (GH)] and 169 controls matched for age and year of delivery were genotyped. Homozygosity of the -514T allele of the -514C > T polymorphism (LIPC gene) decreased the risk of GH (OR = 0.17, CI(95): 0.02-0.76), while there were more -60G carriers of the -60C > G LIPE gene polymorphism (OR = 3.51, CI(95):1.02-12.10) among GH cases, but not in PE cases. The common ApoCIII two-locus -482CC/3238CC genotype was lower in women with GH compared with controls (OR = 0.53, CI(95): 0.3-0.9). The combined frequency of at-risk genotypes was higher in cases of GH compared with controls [one at-risk genotype: OR = 3.38 (95% CI: 0.48-41.8); two or more at-risk genotypes: OR = 7.14 (95% CI: 1.21-92.3, P = 0.01)], suggesting a gene-dose effect. We conclude that the combined effect of LIPC, LIPE and ApoCIII gene polymorphisms may increase the likelihood of GH, but seemingly not of PE.

journal_name

J Hum Genet

authors

Bernard N,Girouard J,Forest JC,Giguère Y

doi

10.1007/s10038-006-0106-1

subject

Has Abstract

pub_date

2007-01-01 00:00:00

pages

244-254

issue

3

eissn

1434-5161

issn

1435-232X

pii

10.1007/s10038-006-0106-1

journal_volume

52

pub_type

杂志文章
  • The pharmacogenomics of valproic acid.

    abstract::Valproic acid is an anticonvulsant and mood-stabilizing drug used primarily in the treatment of epilepsy and bipolar disorder. Adverse effects of valproic acid are rare, but hepatotoxicity is severe in particular in those younger than 2 years old and polytherapy. During valproic acid treatment, it is difficult for pre...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,评审

    doi:10.1038/jhg.2017.91

    authors: Zhu MM,Li HL,Shi LH,Chen XP,Luo J,Zhang ZL

    更新日期:2017-12-01 00:00:00

  • Genetic effects have a dominant role on poor responses to infant vaccination to hepatitis B virus.

    abstract::The objective of this study was to investigate the overall contribution of genetic and environmental effects on poor response to hepatitis B virus (HBV) vaccination in Chinese infants. One-year-old healthy twins were recruited from child-care settings. Parental factors, neonates' condition at birth, postnatal infant f...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2013.18

    authors: Yan K,Cai W,Cao F,Sun H,Chen S,Xu R,Wei X,Shi X,Yan W

    更新日期:2013-05-01 00:00:00

  • Tissue specificity of methylation and expression of human genes coding for neuropeptides and their receptors, and of a human endogenous retrovirus K family.

    abstract::The purpose of the present study was to understand the tissue specificity of DNA methylation and the relationship between methylation and expression of genes with essential roles in neurodevelopment and brain function. We chose dopamine receptor genes (DRD1 and DRD2), NCAM, and COMT as examples of genes with CpG islan...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-006-0382-9

    authors: Shen HM,Nakamura A,Sugimoto J,Sakumoto N,Oda T,Jinno Y,Okazaki Y

    更新日期:2006-01-01 00:00:00

  • Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia.

    abstract::The importance of epigenetic control in the development of the central nervous system has recently been attracting attention. Methylation patterns of lysine 4 and lysine 36 in histone H3 (H3K4 and H3K36) in the central nervous system are highly conserved among species. Numerous complications of body malformations and ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/s10038-020-00889-4

    authors: Yokotsuka-Ishida S,Nakamura M,Tomiyasu Y,Nagai M,Kato Y,Tomiyasu A,Umehara H,Hayashi T,Sasaki N,Ueno SI,Sano A

    更新日期:2021-01-06 00:00:00

  • The SCARB1 gene is associated with lipid response to dietary and pharmacological interventions.

    abstract::The scavenger receptor class B type 1 (SCARB1) gene is a key component in the reverse cholesterol transport pathway and thus plays an important role in lipid metabolism. Studies suggest that the SCARB1 gene may contribute to variation in plasma lipid levels at fasting; however, the results have been inconsistent, and ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-008-0302-2

    authors: Liu Y,Ordovas JM,Gao G,Province M,Straka RJ,Tsai MY,Lai CQ,Zhang K,Borecki I,Hixson JE,Allison DB,Arnett DK

    更新日期:2008-01-01 00:00:00

  • The medaka fish Tol2 transposable element can undergo excision in human and mouse cells.

    abstract::Tol2 is an active DNA-based transposable element identified in the medaka fish, Oryzias latipes. Originating from a vertebrate and belonging to the hAT ( hobo/ Activator/ Tam3) transposable element family, featuring a wide distribution among organisms, Tol2 would be expected to be active if introduced into mammals. We...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-003-0016-4

    authors: Koga A,Iida A,Kamiya M,Hayashi R,Hori H,Ishikawa Y,Tachibana A

    更新日期:2003-01-01 00:00:00

  • In vivo genome editing via the HITI method as a tool for gene therapy.

    abstract::Using genome-editing technologies to correct specific mutations represents a potentially transformative new approach for treating genetic disorders. Despite rapid advances in the field of genome editing, it is still unclear whether the long-standing goal of in vivo targeted transgene integration is feasible. This is p...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,评审

    doi:10.1038/s10038-017-0352-4

    authors: Suzuki K,Izpisua Belmonte JC

    更新日期:2018-02-01 00:00:00

  • Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese.

    abstract::Most studies on the genetic basis of human skin pigmentation have focused on people of European ancestry and only a few studies have focused on Asian populations. We investigated the association of skin reflectance and freckling with genetic variants of melanocortin 1 receptor (MC1R) gene in Japanese. DNA samples were...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2012.96

    authors: Yamaguchi K,Watanabe C,Kawaguchi A,Sato T,Naka I,Shindo M,Moromizato K,Aoki K,Ishida H,Kimura R

    更新日期:2012-11-26 00:00:00

  • Polymorphisms in NRXN3, TFAP2B, MSRA, LYPLAL1, FTO and MC4R and their effect on visceral fat area in the Japanese population.

    abstract::The predominant risk factor of metabolic syndrome is intra-abdominal fat accumulation, which is determined by waist circumference and waist-hip ratio measurements and visceral fat area (VFA) that is measured by computed tomography (CT). There is evidence that waist circumference and waist-hip ratio in the Caucasian po...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2010.99

    authors: Hotta K,Nakamura M,Nakamura T,Matsuo T,Nakata Y,Kamohara S,Miyatake N,Kotani K,Komatsu R,Itoh N,Mineo I,Wada J,Yoneda M,Nakajima A,Funahashi T,Miyazaki S,Tokunaga K,Kawamoto M,Masuzaki H,Ueno T,Hamaguchi K,Tanak

    更新日期:2010-11-01 00:00:00

  • A grid-search algorithm for optimal allocation of sample size in two-stage association studies.

    abstract::Multiple testing occurs commonly in genome-wide association studies with dense SNPs map. With numerous SNPs, not only the genotyping cost and time increase dramatically, many family wise error rate (FWER) controlling methods may fail for being too conservative and of less power when detecting SNPs associated with dise...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-007-0159-9

    authors: Wen SH,Hsiao CK

    更新日期:2007-01-01 00:00:00

  • Strategies for genome-wide association studies: optimization of study designs by the stepwise focusing method.

    abstract::Recently, the use of genome-wide linkage disequilibrium (LD) analysis to localize traits has attracted much attention because of the introduction of high-throughput genotyping systems. However, a limitation of such studies is often the total cost of genotyping in addition to sample size. Therefore, it is important to ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s100380200050

    authors: Saito A,Kamatani N

    更新日期:2002-01-01 00:00:00

  • Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene.

    abstract::Deletion of exons 45-55 (del45-55) in the Duchenne muscular dystrophy gene (DMD) has gained particular interest in the field of molecular therapy, because it causes a milder phenotype than DMD, and therefore, may represent a good candidate for the goal of a multiple exon-skipping strategy. We have precisely characteri...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2008.8

    authors: Miyazaki D,Yoshida K,Fukushima K,Nakamura A,Suzuki K,Sato T,Takeda S,Ikeda S

    更新日期:2009-02-01 00:00:00

  • Genomic structure of the gene encoding human 3-hydroxy-3-methyl-glutaryl coenzyme A reductase: comparison of exon/intron organization of sterol-sensing domains among four related genes.

    abstract::We determined the genomic structure of the human gene encoding 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, which catalyzes the conversion of HMG-CoA to mevalonate and is the rate-limiting and major regulatory enzyme in sterol biosynthesis. The gene is more than 21 kb long, about five times the size of i...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s100380070017

    authors: Nakajima T,Iwaki K,Hamakubo T,Kodama T,Emi M

    更新日期:2000-01-01 00:00:00

  • Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.

    abstract::Genetic testing for BRCA1/2 mutations has become the standard clinical practice. Recent findings suggest the clinical significance of multigene panel testing of BRCA1/2 and other cancer-related genes. However, the clinical features of patients with breast cancer with germline mutations identified using multigene panel...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/s10038-020-0729-7

    authors: Hata C,Nakaoka H,Xiang Y,Wang D,Yang A,Liu D,Liu F,Zou Q,Wei L,Zheng K,Inoue I,You H

    更新日期:2020-07-01 00:00:00

  • A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.

    abstract::Leigh syndrome is one of the most common subtypes of mitochondrial disease. Mutations in encoding genes of oxidative phosphorylation complexes have been frequently reported, of which, MTATP6 was one of the most frequently reported genes for Leigh syndrome. In this study, by using next-generation sequencing targeted to...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/s10038-018-0505-0

    authors: Lou X,Shi H,Wen S,Li Y,Wei X,Xie J,Ma L,Yang Y,Fang H,Lyu J

    更新日期:2018-12-01 00:00:00

  • INPPL1 gene mutations in opsismodysplasia.

    abstract::The INPPL1 (inositol polyphosphate phosphatase-like 1) gene encodes the inositol phosphatase, SHIP2 (for src homology 2 domain-containing inositol phosphatase 2). SHIP2 functions to dephosphorylate, and negatively regulate, the lipid second messenger phosphatidylinositol (3,4,5)P3. SHIP2 has been well studied in the a...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,评审

    doi:10.1038/jhg.2016.119

    authors: Fradet A,Fitzgerald J

    更新日期:2017-02-01 00:00:00

  • A combined linkage and association strategy identifies a variant near the GSTP1 gene associated with BMI in the Mexican population.

    abstract::Obesity is a major public health concern in Mexico and worldwide. Although the estimated heritability is high, common variants identified by genome-wide association studies explain only a small proportion of this heritability. A combination of linkage and association strategies could be a more robust and powerful appr...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2016.145

    authors: Villamil-Ramírez H,León-Mimila P,Macias-Kauffer LR,Canizalez-Román A,Villalobos-Comparán M,León-Sicairos N,Vega-Badillo J,Sánchez-Muñoz F,López-Contreras B,Morán-Ramos S,Villarreal-Molina T,Zurita LC,Campos-Pérez F,Huertas-Vazq

    更新日期:2017-03-01 00:00:00

  • CRISPR/Cas9 library screening for drug target discovery.

    abstract::CRISPR/Cas9-based tools have rapidly developed in recent years. These include CRISPR-based gene activation (CRISPRa) or inhibition (CRISPRi), for which there are libraries. CRISPR libraries for loss of function have been widely used to identify new biological mechanisms, such as drug resistance and cell survival signa...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,评审

    doi:10.1038/s10038-017-0376-9

    authors: Kurata M,Yamamoto K,Moriarity BS,Kitagawa M,Largaespada DA

    更新日期:2018-02-01 00:00:00

  • Recapitulation of genome-wide association studies on pulse pressure and mean arterial pressure in the Korean population.

    abstract::Increased pulse pressure (PP) and decreased mean arterial pressure (MAP) are strong prognostic predictors of adverse cardiovascular events. Recently, the International Consortium for Blood Pressure Genome-Wide Association Studies (ICBP-GWAS) reported eight loci that influenced PP and MAP. The ICBP-GWAS examined 51 coh...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2012.31

    authors: Hong KW,Min H,Heo BM,Joo SE,Kim SS,Kim Y

    更新日期:2012-06-01 00:00:00

  • Mitochondrial DNA analysis of Yayoi period human skeletal remains from the Doigahama site.

    abstract::We analyzed the mitochondrial DNA extracted from 14 human skeletal remains from the Doigahama site in Japan to clarify the genetic structure of the Doigahama Yayoi population and the relationship between burial style and kinship among individuals. The sequence types obtained in this study were compared with those of t...

    journal_title:Journal of human genetics

    pub_type: 历史文章,杂志文章

    doi:10.1038/jhg.2009.81

    authors: Igawa K,Manabe Y,Oyamada J,Kitagawa Y,Kato K,Ikematsu K,Nakasono I,Matsushita T,Rokutanda A

    更新日期:2009-10-01 00:00:00

  • Characterization of a VNTR polymorphism in the coding region of the CEL gene.

    abstract::Human carboxyl ester lipase (CEL) secreted by the pancreas into the duodenum is a glycoprotein playing an essential role in the intestinal processing of cholesterol and lipid-soluble vitamins. The gene encoding CEL was known to contain a tandemly repeated sequence of the 11-amino-acid motif in the C-terminal region. W...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s100380200027

    authors: Higuchi S,Nakamura Y,Saito S

    更新日期:2002-01-01 00:00:00

  • PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure.

    abstract::PlexinA is a neuronal receptor protein that facilitates axon guidance during embryogenesis. This gene is associated with several neurological disorders including Alzheimer's disease, Parkinson's disease and autism. However, the effect of variants of PlexinA on brain structure remains unclear. We demonstrate that singl...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2014.107

    authors: Belyk M,Kraft SJ,Brown S,Pediatric Imaging, Neurocognition and Genetics Study.

    更新日期:2015-03-01 00:00:00

  • Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.

    abstract::Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. More than 90% of CAH cases are caused by mutations of the CYP21 gene. Approximately 75% of the defective CYP21 genes are generated through intergenic recombination, termed ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s100380200077

    authors: Lee HH,Niu DM,Lin RW,Chan P,Lin CY

    更新日期:2002-01-01 00:00:00

  • Association between ESR1 and ESR2 gene polymorphisms and hyperlipidemia in Chinese Han postmenopausal women.

    abstract::Estrogen was considered to be an important protective factor for cardiovascular diseases in women. Genetic association studies suggested that variations of ESR1and ESR2 genes might have a potential role in lipid profile. Our study aimed to investigate the association of single-nucleotide polymorphisms (SNPs) of ESR1 a...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2009.122

    authors: Zhao T,Zhang D,Liu Y,Zhou D,Chen Z,Yang Y,Li S,Yu L,Zhang Z,Feng G,He L,Xu H

    更新日期:2010-01-01 00:00:00

  • Quantifying the uncertainty in heritability.

    abstract::The use of mixed models to determine narrow-sense heritability and related quantities such as SNP heritability has received much recent attention. Less attention has been paid to the inherent variability in these estimates. One approach for quantifying variability in estimates of heritability is a frequentist approach...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2014.15

    authors: Furlotte NA,Heckerman D,Lippert C

    更新日期:2014-05-01 00:00:00

  • Microsatellite data support subpopulation structuring among Basques.

    abstract::Genomic diversity based on 13 short tandem repeat (STR) loci (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, TH01, TPOX, and CSF1PO) is reported for the first time in Basques from the provinces of Guipúzcoa and Navarre (Spain). STR data from previous studies on Basques from Alava and Viz...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-005-0268-2

    authors: Pérez-Miranda AM,Alfonso-Sánchez MA,Kalantar A,García-Obregón S,de Pancorbo MM,Peña JA,Herrera RJ

    更新日期:2005-01-01 00:00:00

  • Role of HCN4 channel in preventing ventricular arrhythmia.

    abstract::Bradycardia is a trigger of ventricular arrhythmias in patients with arrhythmia including Brugada syndrome and long QT syndrome. The HCN4 channel controls the heart rate, and its mutations predispose to inherited sick sinus syndrome and long QT syndrome associated with bradycardia. We found a 4 base-insertion at the s...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2008.16

    authors: Ueda K,Hirano Y,Higashiuesato Y,Aizawa Y,Hayashi T,Inagaki N,Tana T,Ohya Y,Takishita S,Muratani H,Hiraoka M,Kimura A

    更新日期:2009-02-01 00:00:00

  • Adult onset limb-girdle type mitochondrial myopathy with a mitochondrial DNA np8291 A-to-G substitution.

    abstract::We analyzed mitochondrial DNA (mtDNA) from 7 patients in four families with adult onset limb-girdle type mitochondrial myopathy to clarify their genetic background. The patients, 2 men and 5 women, showed common clinical features, characterized by isolated skeletal myopathy, high serum creatine kinase level, ragged-re...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s100380050145

    authors: Hirata K,Nakagawa M,Higuchi I,Hashimoto K,Hanada K,Takahashi K,Niiyama T,Izumi K,Sakoda S,Yamada H,Osame M

    更新日期:1999-01-01 00:00:00

  • DBGSA: a novel method of distance-based gene set analysis.

    abstract::When compared with single gene functional analysis, gene set analysis (GSA) can extract more information from gene expression profiles. Currently, several gene set methods have been proposed, but most of the methods cannot detect gene sets with a large number of minor-effect genes. Here, we propose a novel distance-ba...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2012.86

    authors: Li J,Wang L,Xu L,Zhang R,Huang M,Wang K,Xu J,Lv H,Shang Z,Zhang M,Jiang Y,Guo M,Li X

    更新日期:2012-10-01 00:00:00

  • Y chromosome of Aisin Gioro, the imperial house of the Qing dynasty.

    abstract::The House of Aisin Gioro is the imperial family of the last dynasty in Chinese history-Qing dynasty (1644-1911). The Aisin Gioro family originated from Jurchen tribes and founded the Manchu people before they conquered China. By investigating the Y chromosomal short tandem repeats (STRs) of seven modern male individua...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2015.28

    authors: Yan S,Tachibana H,Wei LH,Yu G,Wen SQ,Wang CC

    更新日期:2015-06-01 00:00:00