Sequence Analysis of Six Candidate Genes in Miniature Schnauzers with Primary Hypertriglyceridemia
Miniature Schnauzers are predisposed to primary hypertriglyceridemia (HTG). In this study, we performed whole genome sequencing (WGS) of eight Miniature Schnauzers with primary HTG and screened for risk variants in six HTG candidate genes: , , , , , and . Variants were filtered to identify those pre...
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| Veröffentlicht in: | Genes 2024-01, Vol.15 (2), p.193 |
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| container_title | Genes |
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| creator | Tate, Nicole M Underwood, Michaela Thomas-Hollands, Alison Minor, Katie M Cullen, Jonah N Friedenberg, Steven G Mickelson, James R Xenoulis, Panagiotis G Steiner, Joerg M Furrow, Eva |
| description | Miniature Schnauzers are predisposed to primary hypertriglyceridemia (HTG). In this study, we performed whole genome sequencing (WGS) of eight Miniature Schnauzers with primary HTG and screened for risk variants in six HTG candidate genes:
,
,
,
,
, and
. Variants were filtered to identify those present in ≥2 Miniature Schnauzers with primary HTG and uncommon ( |
| doi_str_mv | 10.3390/genes15020193 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_proqu</sourceid><recordid>TN_cdi_proquest_miscellaneous_2932022806</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A784039797</galeid><sourcerecordid>A784039797</sourcerecordid><originalsourceid>FETCH-LOGICAL-c383t-ae5086e6e6299ffb7f2ed819bc96e5e0c76393f0f0b49f20f8ce254a6119e2ab3</originalsourceid><addsrcrecordid>eNptkUtLxDAUhYMoKurSrQTcuKneJn0ky2HwBYrC6Lqk6c0Y6aRj0qLjrzfj-MbcRUL47uscQvZTOOZcwskUHYY0Bwap5Gtkm0HJkyxj-fqP9xbZC-ER4skiCPkm2eKCyzIVfJvUE3wa0GmkI6faRbCBdoZO7AsdK9fYRvVIz5ddqHX02jqr-sEjnegHp4ZX9IE-2_6B3no7U35BLxZz9L2303ah0dsGZ1btkg2j2oB7H_cOuT87vRtfJFc355fj0VWi4zh9ojAHUWAMJqUxdWkYNiKVtZYF5gi6LLjkBgzUmTQMjNDI8kwVaSqRqZrvkKNV3bnv4k6hr2Y2aGxb5bAbQsUkZ8CYgCKih3_Qx27wUYB3CmQmeC6-qalqsbLOdL1Xelm0GpUig6ihLCN1_A8VY7m87hwaG_9_JSSrBO27EDyaar5Sr0qhWtpa_bI18gcfww71DJsv-tNE_gao-5zY</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2930948358</pqid></control><display><type>article</type><title>Sequence Analysis of Six Candidate Genes in Miniature Schnauzers with Primary Hypertriglyceridemia</title><source>MDPI - Multidisciplinary Digital Publishing Institute</source><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><source>PubMed Central Open Access</source><creator>Tate, Nicole M ; Underwood, Michaela ; Thomas-Hollands, Alison ; Minor, Katie M ; Cullen, Jonah N ; Friedenberg, Steven G ; Mickelson, James R ; Xenoulis, Panagiotis G ; Steiner, Joerg M ; Furrow, Eva</creator><creatorcontrib>Tate, Nicole M ; Underwood, Michaela ; Thomas-Hollands, Alison ; Minor, Katie M ; Cullen, Jonah N ; Friedenberg, Steven G ; Mickelson, James R ; Xenoulis, Panagiotis G ; Steiner, Joerg M ; Furrow, Eva</creatorcontrib><description>Miniature Schnauzers are predisposed to primary hypertriglyceridemia (HTG). In this study, we performed whole genome sequencing (WGS) of eight Miniature Schnauzers with primary HTG and screened for risk variants in six HTG candidate genes:
,
,
,
,
, and
. Variants were filtered to identify those present in ≥2 Miniature Schnauzers with primary HTG and uncommon (<10% allele frequency) in a WGS variant database including 613 dogs from 61 other breeds. Three variants passed filtering: an
TATA box deletion, an
intronic SNP, and a
missense variant. The
and
variants were genotyped in a cohort of 108 Miniature Schnauzers, including 68 with primary HTG and 40 controls. A multivariable regression model, including age and sex, did not identify an effect of
(estimate = 0.18, std. error = 0.14;
= 0.20) or
genotypes (estimate = -0.26, std. error = 0.42;
= 0.54) on triglyceride concentration. In conclusion, we did not identify a monogenic cause for primary HTG in Miniature Schnauzers in the six genes evaluated. However, if HTG in Miniature Schnauzers is a complex disease resulting from the cumulative effects of multiple variants and environment, the identified variants cannot be ruled out as contributing factors.</description><identifier>ISSN: 2073-4425</identifier><identifier>EISSN: 2073-4425</identifier><identifier>DOI: 10.3390/genes15020193</identifier><identifier>PMID: 38397183</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Age ; Animals ; Apolipoprotein E ; Apolipoproteins ; Apolipoproteins E - genetics ; Diabetes ; DNA sequencing ; Dogs ; Enzymes ; Ethylenediaminetetraacetic acid ; Gene frequency ; Genes ; Genomes ; Genomics ; Genotype ; Genotype & phenotype ; Genotypes ; Humans ; Hyperlipidemia ; Hypertriglyceridemia ; Hypertriglyceridemia - genetics ; Hypertriglyceridemia - veterinary ; Hypothyroidism ; Lipids ; Metabolism ; Nucleotide sequencing ; Sequence Analysis ; Single-nucleotide polymorphism ; Tata box ; Triglycerides ; Triglycerides - genetics ; Whole genome sequencing</subject><ispartof>Genes, 2024-01, Vol.15 (2), p.193</ispartof><rights>COPYRIGHT 2024 MDPI AG</rights><rights>2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c383t-ae5086e6e6299ffb7f2ed819bc96e5e0c76393f0f0b49f20f8ce254a6119e2ab3</cites><orcidid>0000-0001-6951-0234 ; 0000-0002-5472-5088 ; 0000-0002-7510-2322 ; 0000-0001-8865-5965 ; 0000-0002-7339-2354</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38397183$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tate, Nicole M</creatorcontrib><creatorcontrib>Underwood, Michaela</creatorcontrib><creatorcontrib>Thomas-Hollands, Alison</creatorcontrib><creatorcontrib>Minor, Katie M</creatorcontrib><creatorcontrib>Cullen, Jonah N</creatorcontrib><creatorcontrib>Friedenberg, Steven G</creatorcontrib><creatorcontrib>Mickelson, James R</creatorcontrib><creatorcontrib>Xenoulis, Panagiotis G</creatorcontrib><creatorcontrib>Steiner, Joerg M</creatorcontrib><creatorcontrib>Furrow, Eva</creatorcontrib><title>Sequence Analysis of Six Candidate Genes in Miniature Schnauzers with Primary Hypertriglyceridemia</title><title>Genes</title><addtitle>Genes (Basel)</addtitle><description>Miniature Schnauzers are predisposed to primary hypertriglyceridemia (HTG). In this study, we performed whole genome sequencing (WGS) of eight Miniature Schnauzers with primary HTG and screened for risk variants in six HTG candidate genes:
,
,
,
,
, and
. Variants were filtered to identify those present in ≥2 Miniature Schnauzers with primary HTG and uncommon (<10% allele frequency) in a WGS variant database including 613 dogs from 61 other breeds. Three variants passed filtering: an
TATA box deletion, an
intronic SNP, and a
missense variant. The
and
variants were genotyped in a cohort of 108 Miniature Schnauzers, including 68 with primary HTG and 40 controls. A multivariable regression model, including age and sex, did not identify an effect of
(estimate = 0.18, std. error = 0.14;
= 0.20) or
genotypes (estimate = -0.26, std. error = 0.42;
= 0.54) on triglyceride concentration. In conclusion, we did not identify a monogenic cause for primary HTG in Miniature Schnauzers in the six genes evaluated. However, if HTG in Miniature Schnauzers is a complex disease resulting from the cumulative effects of multiple variants and environment, the identified variants cannot be ruled out as contributing factors.</description><subject>Age</subject><subject>Animals</subject><subject>Apolipoprotein E</subject><subject>Apolipoproteins</subject><subject>Apolipoproteins E - genetics</subject><subject>Diabetes</subject><subject>DNA sequencing</subject><subject>Dogs</subject><subject>Enzymes</subject><subject>Ethylenediaminetetraacetic acid</subject><subject>Gene frequency</subject><subject>Genes</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Genotype</subject><subject>Genotype & phenotype</subject><subject>Genotypes</subject><subject>Humans</subject><subject>Hyperlipidemia</subject><subject>Hypertriglyceridemia</subject><subject>Hypertriglyceridemia - genetics</subject><subject>Hypertriglyceridemia - veterinary</subject><subject>Hypothyroidism</subject><subject>Lipids</subject><subject>Metabolism</subject><subject>Nucleotide sequencing</subject><subject>Sequence Analysis</subject><subject>Single-nucleotide polymorphism</subject><subject>Tata box</subject><subject>Triglycerides</subject><subject>Triglycerides - genetics</subject><subject>Whole genome sequencing</subject><issn>2073-4425</issn><issn>2073-4425</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNptkUtLxDAUhYMoKurSrQTcuKneJn0ky2HwBYrC6Lqk6c0Y6aRj0qLjrzfj-MbcRUL47uscQvZTOOZcwskUHYY0Bwap5Gtkm0HJkyxj-fqP9xbZC-ER4skiCPkm2eKCyzIVfJvUE3wa0GmkI6faRbCBdoZO7AsdK9fYRvVIz5ddqHX02jqr-sEjnegHp4ZX9IE-2_6B3no7U35BLxZz9L2303ah0dsGZ1btkg2j2oB7H_cOuT87vRtfJFc355fj0VWi4zh9ojAHUWAMJqUxdWkYNiKVtZYF5gi6LLjkBgzUmTQMjNDI8kwVaSqRqZrvkKNV3bnv4k6hr2Y2aGxb5bAbQsUkZ8CYgCKih3_Qx27wUYB3CmQmeC6-qalqsbLOdL1Xelm0GpUig6ihLCN1_A8VY7m87hwaG_9_JSSrBO27EDyaar5Sr0qhWtpa_bI18gcfww71DJsv-tNE_gao-5zY</recordid><startdate>20240131</startdate><enddate>20240131</enddate><creator>Tate, Nicole M</creator><creator>Underwood, Michaela</creator><creator>Thomas-Hollands, Alison</creator><creator>Minor, Katie M</creator><creator>Cullen, Jonah N</creator><creator>Friedenberg, Steven G</creator><creator>Mickelson, James R</creator><creator>Xenoulis, Panagiotis G</creator><creator>Steiner, Joerg M</creator><creator>Furrow, Eva</creator><general>MDPI AG</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-6951-0234</orcidid><orcidid>https://orcid.org/0000-0002-5472-5088</orcidid><orcidid>https://orcid.org/0000-0002-7510-2322</orcidid><orcidid>https://orcid.org/0000-0001-8865-5965</orcidid><orcidid>https://orcid.org/0000-0002-7339-2354</orcidid></search><sort><creationdate>20240131</creationdate><title>Sequence Analysis of Six Candidate Genes in Miniature Schnauzers with Primary Hypertriglyceridemia</title><author>Tate, Nicole M ; Underwood, Michaela ; Thomas-Hollands, Alison ; Minor, Katie M ; Cullen, Jonah N ; Friedenberg, Steven G ; Mickelson, James R ; Xenoulis, Panagiotis G ; Steiner, Joerg M ; Furrow, Eva</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c383t-ae5086e6e6299ffb7f2ed819bc96e5e0c76393f0f0b49f20f8ce254a6119e2ab3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Age</topic><topic>Animals</topic><topic>Apolipoprotein E</topic><topic>Apolipoproteins</topic><topic>Apolipoproteins E - genetics</topic><topic>Diabetes</topic><topic>DNA sequencing</topic><topic>Dogs</topic><topic>Enzymes</topic><topic>Ethylenediaminetetraacetic acid</topic><topic>Gene frequency</topic><topic>Genes</topic><topic>Genomes</topic><topic>Genomics</topic><topic>Genotype</topic><topic>Genotype & phenotype</topic><topic>Genotypes</topic><topic>Humans</topic><topic>Hyperlipidemia</topic><topic>Hypertriglyceridemia</topic><topic>Hypertriglyceridemia - genetics</topic><topic>Hypertriglyceridemia - veterinary</topic><topic>Hypothyroidism</topic><topic>Lipids</topic><topic>Metabolism</topic><topic>Nucleotide sequencing</topic><topic>Sequence Analysis</topic><topic>Single-nucleotide polymorphism</topic><topic>Tata box</topic><topic>Triglycerides</topic><topic>Triglycerides - genetics</topic><topic>Whole genome sequencing</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tate, Nicole M</creatorcontrib><creatorcontrib>Underwood, Michaela</creatorcontrib><creatorcontrib>Thomas-Hollands, Alison</creatorcontrib><creatorcontrib>Minor, Katie M</creatorcontrib><creatorcontrib>Cullen, Jonah N</creatorcontrib><creatorcontrib>Friedenberg, Steven G</creatorcontrib><creatorcontrib>Mickelson, James R</creatorcontrib><creatorcontrib>Xenoulis, Panagiotis G</creatorcontrib><creatorcontrib>Steiner, Joerg M</creatorcontrib><creatorcontrib>Furrow, Eva</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Genes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tate, Nicole M</au><au>Underwood, Michaela</au><au>Thomas-Hollands, Alison</au><au>Minor, Katie M</au><au>Cullen, Jonah N</au><au>Friedenberg, Steven G</au><au>Mickelson, James R</au><au>Xenoulis, Panagiotis G</au><au>Steiner, Joerg M</au><au>Furrow, Eva</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Sequence Analysis of Six Candidate Genes in Miniature Schnauzers with Primary Hypertriglyceridemia</atitle><jtitle>Genes</jtitle><addtitle>Genes (Basel)</addtitle><date>2024-01-31</date><risdate>2024</risdate><volume>15</volume><issue>2</issue><spage>193</spage><pages>193-</pages><issn>2073-4425</issn><eissn>2073-4425</eissn><abstract>Miniature Schnauzers are predisposed to primary hypertriglyceridemia (HTG). In this study, we performed whole genome sequencing (WGS) of eight Miniature Schnauzers with primary HTG and screened for risk variants in six HTG candidate genes:
,
,
,
,
, and
. Variants were filtered to identify those present in ≥2 Miniature Schnauzers with primary HTG and uncommon (<10% allele frequency) in a WGS variant database including 613 dogs from 61 other breeds. Three variants passed filtering: an
TATA box deletion, an
intronic SNP, and a
missense variant. The
and
variants were genotyped in a cohort of 108 Miniature Schnauzers, including 68 with primary HTG and 40 controls. A multivariable regression model, including age and sex, did not identify an effect of
(estimate = 0.18, std. error = 0.14;
= 0.20) or
genotypes (estimate = -0.26, std. error = 0.42;
= 0.54) on triglyceride concentration. In conclusion, we did not identify a monogenic cause for primary HTG in Miniature Schnauzers in the six genes evaluated. However, if HTG in Miniature Schnauzers is a complex disease resulting from the cumulative effects of multiple variants and environment, the identified variants cannot be ruled out as contributing factors.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>38397183</pmid><doi>10.3390/genes15020193</doi><orcidid>https://orcid.org/0000-0001-6951-0234</orcidid><orcidid>https://orcid.org/0000-0002-5472-5088</orcidid><orcidid>https://orcid.org/0000-0002-7510-2322</orcidid><orcidid>https://orcid.org/0000-0001-8865-5965</orcidid><orcidid>https://orcid.org/0000-0002-7339-2354</orcidid><oa>free_for_read</oa></addata></record> |
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| source | MDPI - Multidisciplinary Digital Publishing Institute; MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; PubMed Central Open Access |
| subjects | Age Animals Apolipoprotein E Apolipoproteins Apolipoproteins E - genetics Diabetes DNA sequencing Dogs Enzymes Ethylenediaminetetraacetic acid Gene frequency Genes Genomes Genomics Genotype Genotype & phenotype Genotypes Humans Hyperlipidemia Hypertriglyceridemia Hypertriglyceridemia - genetics Hypertriglyceridemia - veterinary Hypothyroidism Lipids Metabolism Nucleotide sequencing Sequence Analysis Single-nucleotide polymorphism Tata box Triglycerides Triglycerides - genetics Whole genome sequencing |
| title | Sequence Analysis of Six Candidate Genes in Miniature Schnauzers with Primary Hypertriglyceridemia |
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