Hypercholesterolemia associated with splice-junction variation of inter-α-trypsin inhibitor heavy chain 4 (ITIH4) gene

Fujita, Yūkō; Ezura, Yoichi; Emi, Mitsuru; Satô, Keiko; Takada, Daisuke; Iino, Yuichi; Katayama, Yasuo; Takahashi, Kaneo; Kamimura, Kouhei; Bujo, Hideaki; Saitō, Yasushi

doi:10.1007/s10038-003-0101-8

Cited by 25 publications

(11 citation statements)

References 22 publications

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“…Finally, we used the online annotation tool SnpNexus (Dayem Ullah et al , 2012 ) to annotate the pQTLs as disease SNPs. We found that two of the pQTLs are associated with the following diseases: rs1801020 on gene F12 with cardiovascular disease (Santamaria et al , 2004 ; Cochery-Nouvellon et al , 2007 ) and rs2071042 on gene ITIH4 with hypercholesterolemia (Fujita et al , 2004 ). In summary, we found pQTLs for 13 proteins that explained about 8.5% of the protein-level variance.…”

Section: Resultsmentioning

confidence: 94%

Quantitative variability of 342 plasma proteins in a human twin population

Liu

Buil

Collins

et al. 2015

Molecular Systems Biology

312

324

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The degree and the origins of quantitative variability of most human plasma proteins are largely unknown. Because the twin study design provides a natural opportunity to estimate the relative contribution of heritability and environment to different traits in human population, we applied here the highly accurate and reproducible SWATH mass spectrometry technique to quantify 1,904 peptides defining 342 unique plasma proteins in 232 plasma samples collected longitudinally from pairs of monozygotic and dizygotic twins at intervals of 2–7 years, and proportioned the observed total quantitative variability to its root causes, genes, and environmental and longitudinal factors. The data indicate that different proteins show vastly different patterns of abundance variability among humans and that genetic control and longitudinal variation affect protein levels and biological processes to different degrees. The data further strongly suggest that the plasma concentrations of clinical biomarkers need to be calibrated against genetic and temporal factors. Moreover, we identified 13 cis-SNPs significantly influencing the level of specific plasma proteins. These results therefore have immediate implications for the effective design of blood-based biomarker studies.

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Section: Resultsmentioning

confidence: 94%

Quantitative variability of 342 plasma proteins in a human twin population

Liu

Buil

Collins

et al. 2015

Molecular Systems Biology

312

324

View full text Add to dashboard Cite

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“…Interestingly, PDK4 has also been found to be under selection in another aquatic mammal, the walrus [ 18 ]. Another gene with a related metabolic function is AGL , involved in glycogen degradation [ 45 , 46 ]. Genes potentially linked to obesity may be related to the hippo's comparatively large size and capacity for fat storage, although the physiology of hippos in general remains little explored [ 47 ].…”

Section: Resultsmentioning

confidence: 99%

A phylogenomic analysis of the role and timing of molecular adaptation in the aquatic transition of cetartiodactyl mammals

et al. 2015

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Recent studies have reported multiple cases of molecular adaptation in cetaceans related to their aquatic abilities. However, none of these has included the hippopotamus, precluding an understanding of whether molecular adaptations in cetaceans occurred before or after they split from their semi-aquatic sister taxa. Here, we obtained new transcriptomes from the hippopotamus and humpback whale, and analysed these together with available data from eight other cetaceans. We identified more than 11 000 orthologous genes and compiled a genome-wide dataset of 6845 coding DNA sequences among 23 mammals, to our knowledge the largest phylogenomic dataset to date for cetaceans. We found positive selection in nine genes on the branch leading to the common ancestor of hippopotamus and whales, and 461 genes in cetaceans compared to 64 in hippopotamus. Functional annotation revealed adaptations in diverse processes, including lipid metabolism, hypoxia, muscle and brain function. By combining these findings with data on protein–protein interactions, we found evidence suggesting clustering among gene products relating to nervous and muscular systems in cetaceans. We found little support for shared ancestral adaptations in the two taxa; most molecular adaptations in extant cetaceans occurred after their split with hippopotamids.

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“…In 2000, Japanese scholar Choi-Miura et al found that inter-alpha-trypsin inhibitor family heavy chain-related protein (IHRP) could inhibit the aggregation and phagocytosis of actins in polymorphonuclear leukocyte, implying that IHRP might be a new APP involved in inflammatory responses [51]. In 2004, Fujita et al showed that genetic locus mutation of ITIH4 might be one of possible factors for dyslipidemia [52]. Then, Piñeiro et al proved that ITIH4 was a new APP isolated from cattle during experimental infection [53].…”

Section: Discussionmentioning

confidence: 99%

ITIH4: A New Potential Biomarker of “Toxin Syndrome” in Coronary Heart Disease Patient Identified with Proteomic Method

Shang

Chen

et al. 2013

Evidence-Based Complementary and Alternative Medicine

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Objective. This trial aims to look for the protein biomarker of “toxin syndrome” of CHD patients. Methods. We have performed two trials in this paper. The first trial was a randomized controlled trial (RCT) of the plasma proteome in unstable angina (UA) patients by Maldi-Tof Mass. The second trial was a nested case-control study in 1503 stable CHD patients with one-year followup for acute cardiovascular events (ACEs). Results. In the RCT study, 12 protein spots were found to be the differential protein for the significant differences between the difference of before and after treatment in group A and group B; 2 of them (3207.37 Da and 4279.95 Da) was considered to be unique to “toxin syndrome” for being differential proteins of group B but not group A. These 2 spots were identified as Isoform 1 of Fibrinogen alpha chain precursor (FGA, 3207.37 Da) and Isoform 2 of inter-alpha-trypsin inhibitor heavy chain H4 (ITIH4, 4279.95 Da), respectively. In the nested case-control study, the result of Western blot demonstrated that protein expression of ITIH4 in the group with followup ACEs was significantly lower than the matched group without followup ACEs (P = 0.027). Conclusion. ITIH4 might be a new potential biomarker of CHD “toxin syndrome” in TCM, indicating the potential role in early identifying high-risk CHD patients in stable period.

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Hypercholesterolemia associated with splice-junction variation of inter-α-trypsin inhibitor heavy chain 4 (ITIH4) gene

Cited by 25 publications

References 22 publications

Quantitative variability of 342 plasma proteins in a human twin population

Quantitative variability of 342 plasma proteins in a human twin population

A phylogenomic analysis of the role and timing of molecular adaptation in the aquatic transition of cetartiodactyl mammals

ITIH4: A New Potential Biomarker of “Toxin Syndrome” in Coronary Heart Disease Patient Identified with Proteomic Method

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