A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number
Open accessAbstract
PurposeCa V 3.2 signaling contributes to nociception, pruritus, gastrointestinal motility, anxiety, and blood pressure homeostasis. This calcium channel, encoded by CACNA1H, overlaps the human tryptase locus, wherein increased TPSAB1 copy number causes hereditary α-tryptasemia. Germ-line CACNA1H variants may contribute to the variable expressivity observed with this genetic trait.MethodsTryptase-encoding sequences at TPSAB1 and TPSB2, and TPSG1 and CACNA1H variants were genotyped in 46 families with hereditary α-tryptasemia syndrome. Electrophysiology was performed on tsA201 HEK cells transfected with wild-type or variant CACNA1H constructs. Effects on clinical phenotypes were interrogated in families with TPSAB1 duplications and in volunteers from the ClinSeq cohort.ResultsThree nonsynonymous variants in CACNA1H (rs3751664, rs58124832, and rs72552056) cosegregated with TPSAB1 duplications in 32/46 families and were confirmed to be in linkage disequilibrium (LD). In vitro, variant Ca V 3.2 had functional effects: reducing current densities, and altering inactivation and deactivation properties. No clinical differences were observed in association with the CACNA1H haplotype.ConclusionA previously unrecognized haplotype containing three functional CACNA1H variants is relatively common among Caucasians, and is frequently coinherited on the same allele as additional TPSAB1 copies. The variant CACNA1H haplotype, which in vitro imparts partial gain of function, does not result in detectable phenotypic differences in the heterozygous state.
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About 3-5% of healthy people carry duplications or multiple copies of the TPSAB1 gene that encodes alpha-tryptase.
“an estimated 3–5% of healthy individuals exhibit duplications or multiple copies of the TPSAB1 gene encoding for alpha-tryptase”
From Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome (2019) · cites this paper as [30]
The Results report increased α-tryptase-encoding TPSAB1 copies, and the section on the ClinSeq cohort describes identifying such copies in some healthy adults. But the reported 3.0% frequency refers to a coinherited variant haplotype, not TPSAB1 duplications; the paper says duplications could not be assessed by that method. These passages do not establish the claimed 3–5% prevalence among healthy people (page numbers unavailable). (LLM, conf=0.86)
Experimental — accuracy not yet measuredSerum tryptase baseline concentrations differ according to the underlying disease and the person's genetic makeup.
“the baseline level of tryptase varies depending on the underlying disease and the genetic background.”
From Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome (2019) · cites this paper as [30]
The Introduction (page unavailable) links increased TPSAB1 copy number to elevated basal serum tryptase and describes a gene-dose effect in hereditary α-tryptasemia. This supports variation with genetic makeup, but the paper does not establish that baseline levels vary across underlying diseases generally. (LLM, conf=0.83)
Experimental — accuracy not yet measuredSeveral genetic, inflammatory, and neoplastic conditions are linked to raised basal serum tryptase.
“Thus, a number of genetic, inflammatory, and neoplastic conditions are associated with an increased basal serum tryptase level.”
From Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome (2019) · cites this paper as [30]
The Introduction (page unavailable) links increased TPSAB1 copy number, a genetic condition, to elevated basal serum tryptase. The paper does not link inflammatory or neoplastic conditions to elevated basal serum tryptase, so it supports only the genetic part of the claim. (LLM, conf=0.88)
Experimental — accuracy not yet measuredHereditary alpha-tryptasemia is an autosomal dominant condition defined by germline replications, usually duplications or triplications, of the TPSAB1 gene encoding alpha-tryptase.
“hereditary alpha-tryptasemia, an autosomal dominant condition defined by germline replications (usually duplications or triplications) of the TPSAB1 gene encoding alpha-tryptase (64-67).”
From Proposed Diagnostic Algorithm for Patients with Suspected Mast Cell Activation Syndrome (2019) · cites this paper as [66]
The Introduction (page unavailable) identifies hereditary α-tryptasemia with extra germline copies of α-tryptase-encoding TPSAB1, and the Results (page unavailable) refer to TPSAB1 duplications or triplications. The Results also describe affected families with increased copy number on one allele, but our copy does not explicitly establish autosomal-dominant inheritance or show that duplications and triplications are the usual forms. (LLM, conf=0.81)
Experimental — accuracy not yet measuredThese conditions include tryptase gene replications such as hereditary alpha tryptasemia, chronic infections such as helminth infections, renal insufficiency especially in hemodialysis patients, and myeloid neoplasms including myelodysplastic syndromes, systemic mastocytosis, acute myeloid leukemia, chronic myeloid leukemia, and chronic eosinophilic leukemia.
“These include tryptase gene replications such as hereditary alpha tryptasemia; chronic infections, such as helminth infections; renal insufficiency – especially hemodialysis patients; and myeloid neoplasms, including myelodysplastic syndromes, SM, acute myeloid leukemia, chronic myeloid leukemia (CML), and chronic eosinophilic leukemia [25–33].”
From Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome (2019) · cites this paper as [30]
In affected family members, MCA symptoms if present may be chronic or acute, and other findings such as dysautonomia, chronic pain, and connective tissue abnormalities including joint hypermobility may be observed.
“In affected family members, symptoms of MCA, if present, may be chronic and/or acute, and other symptoms and findings, including dysautonomia, chronic pain, and connective tissue abnormalities such as joint hypermobility, may also be observed (64-67).”
From Proposed Diagnostic Algorithm for Patients with Suspected Mast Cell Activation Syndrome (2019) · cites this paper as [66]
More than 30% of patients with myeloid neoplasms, including mastocytosis, have raised basal tryptase.
“over 30% of all patients with myeloid neoplasms, including mastocytosis, have elevated basal tryptase levels.”
From Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome (2019) · cites this paper as [30]
The Introduction links increased TPSAB1 copy number to elevated basal serum tryptase, and the Subjects section mentions mastocytosis study protocols. Neither passage reports the proportion of patients with myeloid neoplasms who have elevated basal tryptase. Searches for myeloid neoplasms, mastocytosis, and the claimed 30% prevalence found no supporting passage in our copy; page numbers were not provided. (LLM, conf=0.73)
Experimental — accuracy not yet measuredUsing the 11.4 ng/mL threshold, raised basal tryptase is frequent in otherwise healthy people (about 5-10% of the general population), in various reactive states, and in hematologic disorders, especially myeloid malignancies (about 20-30%).
“when taking the 11.4 threshold as denominator, an increased basal tryptase level is found frequently in otherwise healthy individuals (roughly 5–10% of the general population), in diverse reactive states, and in hematologic disorders, especially in myeloid malignancies (roughly 20–30%; Table 2) [25–31].”
From Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome (2019) · cites this paper as [30]
The Introduction links increased TPSAB1 copy number to elevated basal serum tryptase, and the ClinSeq methods describe measuring tryptase in healthy adults. Neither those passages nor searches for the 11.4 ng/mL threshold, population prevalence, reactive states, or myeloid malignancies establish the frequencies claimed; the paper’s reported screening threshold is >8 ng/mL. (LLM, conf=0.72)
Experimental — accuracy not yet measured
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Cites
Haploview: analysis and visualization of LD and haplotype maps
Barrett, J., Fry, B., Maller, J., & Daly, M. (2005) · Bioinform. · doi:10.1093/bioinformatics/bth457 · Cited by 15,086 · see citing works
The Somatic Genomic Landscape of Glioblastoma
Brennan, C. W., Verhaak, R. G. W., McKenna, A., Campos, B., Noushmehr, H., Salama, S. R., Zheng, S., Chakravarty, D., Sanborn, J. Z., Berman, S. H., et al. (2013) · Cell · doi:10.1016/j.cell.2013.09.034 · Cited by 5,016 · see citing works
Self-citationResolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Posey, J. E., Harel, T., Liu, P., Rosenfeld, J. A., James, R. A., Coban‐Akdemir, Z., Walkiewicz, M. A., Bi, W., Xiao, R., Ding, Y., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1516767 · Cited by 772 · see citing works
COMPASS 31: a refined and abbreviated composite autonomic symptom score
Sletten, D. M., Suarez, G. A., Low, P. A., Mandrekar, J., & Singer, W. (2012) · Mayo Clinic Proceedings · doi:10.1016/j.mayocp.2012.10.013 · Cited by 741 · see citing works
Molecular Cloning of the CA125 Ovarian Cancer Antigen
Yin, B. W. T., & Lloyd, K. O. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m103554200 · Cited by 627 · see citing works
Rome III: New standard for functional gastrointestinal disorders.
Drossman, D. A., & Dumitrascu, D. L. (2006) · PubMed · Cited by 584 · see citing works
Lyons, J. J., Yu, X., Hughes, J. D., Le, Q. T., Jamil, A., Bai, Y., Ho, N., Zhao, M., Liu, Y., O'Connell, M. P., et al. (2016) · Nature Genetics · doi:10.1038/ng.3696 · Cited by 394 · see citing works
Self-citationScholl, U. I., Stölting, G., Nelson-Williams, C. J., Vichot, A. A., Choi, M., Loring, E. C., Prasad, M. L., Goh, G., Carling, T., Juhlin, C. C., et al. (2015) · eLife · doi:10.7554/elife.06315 · Cited by 358 · see citing works
Ryan, D. P., Dias da Silva, M. R., Soong, T. W., Fontaine, B., Donaldson, M. R., Kung, A. W. C., Jongjaroenprasert, W., Liang, M. C., Khoo, D. H. C., Cheah, J. S., et al. (2010) · Cell · doi:10.1016/j.cell.2009.12.024 · Cited by 311 · see citing works
de Bolós, C., Garrido, M., & Real, F. X. (1995) · Gastroenterology · doi:10.1016/0016-5085(95)90379-8 · Cited by 274 · see citing works
The human gene damage index as a gene-level approach to prioritizing exome variants
Itan, Y., Shang, L., Boisson, B., Patin, É., Bolze, A., Moncada‐Vélez, M., Scott, E., Ciancanelli, M. J., Lafaille, F. G., Markle, J., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1518646112 · Cited by 271 · see citing works
The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicinePreprint
Biesecker, L. G., Mullikin, J. C., Facio, F. M., Turner, C., Cherukuri, P. F., Blakesley, R. W., Bouffard, G. G., Chines, P. S., Cruz, P., Hansen, N. F., et al. (2009) · Genome Research · doi:10.1101/gr.092841.109 · Cited by 260 · see citing works
Self-citationCACNA1H mutations in autism spectrum disorders
Splawski, I., Yoo, D. S., Stotz, S. C., Cherry, A., Clapham, D. E., & Keating, M. T. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m603316200 · Cited by 255 · see citing works
Self-citationGarcı́a-Caballero, A., Gadotti, V. M., Stemkowski, P. L., Weiss, N., Souza, I. A., Hodgkinson, V. L., Bladen, C., Chen, L., Hamid, J., Pizzoccaro, A., et al. (2014) · Neuron · doi:10.1016/j.neuron.2014.07.036 · Cited by 254 · see citing works
Zhang, Y., Yu, X., Ichikawa, M., Lyons, J. J., Datta, S., Lamborn, I. T., Jing, H., Kim, E. S., Biancalana, M., Wolfe, L. A., et al. (2014) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2014.02.013 · Cited by 247 · see citing works
Self-citationAttenuated pain responses in mice lacking CaV3.2 T‐type channels
Choi, S., Na, H. S., Kim, J., Lee, J., Lee, S., Kim, D., Park, J., Chen, C., Campbell, K. P., & Shin, H. (2006) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2006.00268.x · Cited by 229 · see citing works
Argüeso, P., Spurr-Michaud, S. J., Russo, C. L., Tisdale, A. S., & Gipson, I. K. (2003) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.02-0862 · Cited by 212 · see citing works
Khosravani, H., Altier, C., Simms, B., Hamming, K. S. C., Snutch, T. P., Mezeyova, J., McRory, J. E., & Zamponi, G. W. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.c400006200 · Cited by 186 · see citing works
Vitko, I., Chen, Y., Arias, J. M., Shen, Y., Wu, X., & Perez‐Reyes, E. (2005) · Journal of Neuroscience · doi:10.1523/jneurosci.0847-05.2005 · Cited by 180 · see citing works
Marger, F., Gelot, A., Alloui, A., Matricon, J., Sanguesa, J., Barr�re, C., Pizzoccaro, A., Muller, E., Nargeot, J., Snutch, T. P., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1100869108 · Cited by 155 · see citing works
Tryptase genetics and anaphylaxis
Caughey, G. H. (2006) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2006.02.026 · Cited by 150 · see citing works
Molecular Structures Involved in L-type Calcium Channel Inactivation
Soldatov, N. M., Zühlke, R. D., Bouron, A., & REUTER, H. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.6.3560 · Cited by 142 · see citing works
Vitko, I., Bidaud, I., Arias, J. M., Mezghrani, A., Lory, P., & Perez‐Reyes, E. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.1817-06.2007 · Cited by 117 · see citing works
Fast Inactivation of Voltage-dependent Calcium Channels
Stotz, S. C., Hamid, J., Spaetgens, R., Jarvis, S. E., & Zamponi, G. W. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m000399200 · Cited by 107 · see citing works
Self-citationGangarossa, G., Laffray, S., Bourinet, E., & Valjent, E. (2014) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2014.00092 · Cited by 79 · see citing works
Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations
Johnston, J. J., Lewis, K. L., Ng, D., Singh, L. N., Wynter, J., Brewer, C., Brooks, B. P., Brownell, I., Candotti, F., Gonsalves, S. G., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.04.013 · Cited by 67 · see citing works
Self-citationVoltage-gated Mobility of the Ca2+ Channel Cytoplasmic Tails and Its Regulatory Role
Kobrinsky, E., Schwartz, E., Abernethy, D. R., & Soldatov, N. M. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m211254200 · Cited by 57 · see citing works
Hydrogen sulfide-induced itch requires activation of Cav3.2 T-type calcium channel in mice
Wang, X., Tian, B., Huang, Y., Peng, X., Chen, L., Li, J., & Liu, T. (2015) · Scientific Reports · doi:10.1038/srep16768 · Cited by 38 · see citing works
Hermes, N., Kewitz, S., & Staege, M. S. (2016) · Current Cancer Drug Targets · doi:10.2174/1568009616666151222151818 · Cited by 33 · see citing works
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Olivera, A., Beaven, M. A., & Metcalfe, D. D. (2018) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2018.01.034 · Cited by 226 · see citing works
Proposed Diagnostic Algorithm for Patients with Suspected Mast Cell Activation Syndrome
Valent, P., Akin, C., Bonadonna, P., Hartmann, K., Brockow, K., Niedoszytko, M., Nedoszytko, B., Siebenhaar, F., Sperr, W. R., Oude Elberink, J. N. G., et al. (2019) · The Journal of Allergy and Clinical Immunology: In Practice · doi:10.1016/j.jaip.2019.01.006 · Cited by 220 · see citing works
Greiner, G., Sprinzl, B., Górska, A., Ratzinger, F., Gurbisz, M., Witzeneder, N., Schmetterer, K. G., Gisslinger, B., Uyanik, G., Hadzijusufovic, E., et al. (2021) · Blood · doi:10.1182/blood.2020006157 · Cited by 189 · see citing works
Lyons, J. J. (2018) · Immunology and Allergy Clinics of North America · doi:10.1016/j.iac.2018.04.003 · Cited by 179 · see citing works
Self-citationValent, P., Bonadonna, P., Hartmann, K., Broesby-Olsen, S., Brockow, K., Butterfield, J. H., Triggiani, M., Lyons, J. J., Oude Elberink, J. N. G., Arock, M., et al. (2019) · International Archives of Allergy and Immunology · doi:10.1159/000501079 · Cited by 146 · see citing works
Self-citationWeiler, C. R., Austen, K. F., Akin, C., Barkoff, M. S., Bernstein, J. A., Bonadonna, P., Butterfield, J. H., Carter, M., Fox, C. C., Maitland, A., et al. (2019) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2019.08.023 · Cited by 123 · see citing works
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Valent, P., Hartmann, K., Bonadonna, P., Gülen, T., Brockow, K., Alvarez-Twose, I., Hermine, O., Niedoszytko, M., Carter, M. C., Hoermann, G., et al. (2022) · The Journal of Allergy and Clinical Immunology: In Practice · doi:10.1016/j.jaip.2022.05.007 · Cited by 90 · see citing works
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- Authors
- Lyons, J. J., Stotz, S. C., Chovanec, J., Liu, Y., Lewis, K. L., Nelson, C., DiMaggio, T., Jones, N., Stone, K. D., Sung, H., Biesecker, L. G., Colicos, M. A., & Milner, J. D.
- Affiliations
- National Institutes of Health (US)
- University of Calgary (CA)
- Leidos Biomedical Research Inc. (United States) (US)
- Corresponding author
- Colicos, Michael A.
- Milner, Joshua D.
- ORCID
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2018-05
- Volume
- 20
- Issue
- 5
- Pages
- 503-512
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2756566263
- Cited by
- 30
- References
- 29
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 2 · 2023: 4 · 2022: 3 · 2021: 5 · 2020: 2 · 2019: 7 · 2018: 2
- FWCI
- 1.23
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- U.S. Department of Health and Human Services (HHSN261200800001E)
- Mastocytosis Society
- National Institutes of Health (#HHSN261200800001E, HG200359 08, HG200359)
- Canadian Institutes of Health Research
- National Human Genome Research Institute (HG200359, HHSN261200800001E, HG200387, ZIAHG200387)
- National Cancer Institute (HHSN261200800001E))
- National Institute of Allergy and Infectious Diseases (HHSN261200800001E)
- NHLBI Division of Intramural Research (HHSN261200800001E)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Neuroscience › Sensory Systems › Ion Channels and Receptors
- Keywords
- CACNA1H, TPSAB1, hereditary alpha-tryptasemia, non-synonymous mutations, linkage disequilibrium, gain-of-function, tryptase, variable expressivity, heterozygous carriers
- MeSH terms
- Cell Line, Gene Frequency, Haplotypes, Humans, Mutation, Phenotype, Linkage Disequilibrium, Sequence Analysis, DNA, Gene Duplication, Calcium Channels, T-Type, Inheritance Patterns, Tryptases, Genetic Loci, Genetic Association Studies, DNA Copy Number Variations, Genotyping Techniques
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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