ArticleJournal of human genetics2004
Hypercholesterolemia associated with splice-junction variation of inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) gene.
Article in Journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.Human molecular genetics · 2014Pooled it
- Targeting the Opioid System in Cardiovascular Disease: Liver Proteomic and Lipid Profile Effects of Naloxone in Atherosclerosis.Biomedicines · 2025Article
- Developing a genome-wide long sequence-specific tag for sex identification in spotted knifejaw (Oplegnathus punctatus).Molecular genetics and genomics : MGG · 2025Article
- The function of the inter-alpha-trypsin inhibitors in the development of disease.Frontiers in medicine · 2024Review
- Inter-alpha-trypsin inhibitor heavy chain 4: A serologic marker relating to disease risk, activity, and treatment outcomes of rheumatoid arthritis.Journal of clinical laboratory analysis · 2022Article
- The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects.Frontiers in genetics · 2022Article
- Associations of cardiovascular risk with circulating peptides related to hypertensive disorders of pregnancy.Hypertension research : official journal of the Japanese Society of Hypertension · 2021Article
- Genetics of Obesity in East Asians.Frontiers in genetics · 2020Review
- Whole-Exomes Sequencing Delineates Gene Variants Profile in a Young Saudi Male with Familial Hypercholesterolemia: Case Report.Journal of clinical and diagnostic research : JCDR · 2017Article
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- A phylogenomic analysis of the role and timing of molecular adaptation in the aquatic transition of cetartiodactyl mammals.Royal Society open science · 2015Article
- Quantitative variability of 342 plasma proteins in a human twin population.Molecular systems biology · 2015Article
- Glycoproteins identified from heart failure and treatment models.Proteomics · 2015Article
- ITIH4: A New Potential Biomarker of "Toxin Syndrome" in Coronary Heart Disease Patient Identified with Proteomic Method.Evidence-based complementary and alternative medicine : eCAM · 2013Article
- Identifying blood biomarkers and physiological processes that distinguish humans with superior performance under psychological stress.PloS one · 2009Article
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- Investigation of an albumin-enriched fraction of human serum and its albuminome.Proteomics. Clinical applications · 2007Article
- Association of single nucleotide polymorphisms in the promoter region of the pro-opiomelanocortin gene (POMC) with low bone mineral density in adult women.Journal of human genetics · 2005Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Factors predisposing to the phenotypic features of higher total cholesterol (T-Cho) have not been clearly defined. Here we report an association between a C/T single nucleotide polymorphism at IVS17+8 in the inter-alpha-trypsin inhibitor heavy chain 4 gene (ITIH4) and plasma total cholesterol levels in 351 adult individuals from an east-central area of Japan. Age and gender-adjusted levels of plasma T-Cho, LDL-cholesterol, triglyceride, and HDL-cholesterol were analyzed. When we separate the subjects into two genotypic groups regarding this single nucleotide polymorphism (SNP), those who lack the T-allele had significantly higher plasma T-Cho levels than the others who bear T-allele (mean 252.3 mg/dl versus 241.7 mg/dl; p=0.009). Of the 309 individuals without the T-allele, approximately 90% presented with hypercholesterolemia, whereas only 10% were hypercholesterolemic among 42 individuals with the T-allele (p <0.0001). These data suggest that genetic variation at ITIH4 locus is one of the likely candidate determinants for plasma cholesterol metabolisms.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.