{"id":"https://openalex.org/W7225810960","doi":"https://doi.org/10.3390/ijms272210086","title":"Genetic Association Analysis of Known Thoracic Aortic Aneurysm and Dissection Susceptibility Genes in a Han-Taiwanese Population","display_name":"Genetic Association Analysis of Known Thoracic Aortic Aneurysm and Dissection Susceptibility Genes in a Han-Taiwanese Population","publication_year":2026,"publication_date":"2026-11-11","ids":{"openalex":"https://openalex.org/W7225810960","doi":"https://doi.org/10.3390/ijms272210086"},"language":"en","primary_location":{"id":"doi:10.3390/ijms272210086","doi":"https://doi.org/10.3390/ijms272210086","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms272210086","pdf_url":null,"source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.3390/ijms272210086","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033310764","display_name":"C.N. Chu","orcid":"https://orcid.org/0000-0003-1224-9527","observed_orcids":["https://orcid.org/0000-0003-1224-9527"]},"institutions":[{"id":"https://openalex.org/I4210126829","display_name":"China Medical University Hospital","ror":"https://ror.org/0368s4g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210126829"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Chiang Chu","raw_affiliation_strings":["Division of Cardiovascular Medicine, Department of Medicine, China Medical University Hospital, 2, Yu-Der Road, North District, Taichung 40447, Taiwan"],"raw_orcid":"https://orcid.org/0000-0003-1224-9527","affiliations":[{"raw_affiliation_string":"Division of Cardiovascular Medicine, Department of Medicine, China Medical University Hospital, 2, Yu-Der Road, North District, Taichung 40447, Taiwan","institution_ids":["https://openalex.org/I4210126829"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067172655","display_name":"Ting\u2010Yuan Liu","orcid":"https://orcid.org/0000-0002-2729-0541","observed_orcids":["https://orcid.org/0000-0002-2729-0541"]},"institutions":[{"id":"https://openalex.org/I4210126829","display_name":"China Medical University Hospital","ror":"https://ror.org/0368s4g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210126829"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Ting-Yuan Liu","raw_affiliation_strings":["Million-Person Precision Medicine Initiative, Department of Medical Research, China Medical University Hospital, 2, Yu-Der Road, North District, Taichung 40447, Taiwan"],"raw_orcid":"https://orcid.org/0000-0002-2729-0541","affiliations":[{"raw_affiliation_string":"Million-Person Precision Medicine Initiative, Department of Medical Research, China Medical University Hospital, 2, Yu-Der Road, North District, Taichung 40447, Taiwan","institution_ids":["https://openalex.org/I4210126829"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047752877","display_name":"J. Yao","orcid":"https://orcid.org/0000-0002-8217-4033","observed_orcids":["https://orcid.org/0000-0002-8217-4033"]},"institutions":[{"id":"https://openalex.org/I4210126829","display_name":"China Medical University Hospital","ror":"https://ror.org/0368s4g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210126829"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Jing-Han Yao","raw_affiliation_strings":["Division of Cardiovascular Medicine, Department of Medicine, China Medical University Hospital, 2, Yu-Der Road, North District, Taichung 40447, Taiwan"],"raw_orcid":"https://orcid.org/0000-0002-8217-4033","affiliations":[{"raw_affiliation_string":"Division of Cardiovascular Medicine, Department of Medicine, China Medical University Hospital, 2, Yu-Der Road, North District, Taichung 40447, Taiwan","institution_ids":["https://openalex.org/I4210126829"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051246420","display_name":"Yen\u2010Nien Lin","orcid":"https://orcid.org/0000-0002-9899-2137","observed_orcids":["https://orcid.org/0000-0002-9899-2137"]},"institutions":[{"id":"https://openalex.org/I184693016","display_name":"China Medical University","ror":"https://ror.org/00v408z34","country_code":"TW","type":"education","lineage":["https://openalex.org/I184693016"]},{"id":"https://openalex.org/I4210126829","display_name":"China Medical University Hospital","ror":"https://ror.org/0368s4g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210126829"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Yen-Nien Lin","raw_affiliation_strings":["Division of Cardiovascular Medicine, Department of Medicine, China Medical University Hospital, 2, Yu-Der Road, North District, Taichung 40447, Taiwan","School of Medicine, China Medical University, 2, Yu-Der Road, North District, Taichung 40447, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Cardiovascular Medicine, Department of Medicine, China Medical University Hospital, 2, Yu-Der Road, North District, Taichung 40447, Taiwan","institution_ids":["https://openalex.org/I4210126829"]},{"raw_affiliation_string":"School of Medicine, China Medical University, 2, Yu-Der Road, North District, Taichung 40447, Taiwan","institution_ids":["https://openalex.org/I184693016"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111545356","display_name":"Fuu\u2010Jen Tsai","orcid":"https://orcid.org/0000-0002-1373-245X","observed_orcids":["https://orcid.org/0000-0002-1373-245X"]},"institutions":[{"id":"https://openalex.org/I4210126829","display_name":"China Medical University Hospital","ror":"https://ror.org/0368s4g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210126829"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Fuu-Jen Tsai","raw_affiliation_strings":["Million-Person Precision Medicine Initiative, Department of Medical Research, China Medical University Hospital, 2, Yu-Der Road, North District, Taichung 40447, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Million-Person Precision Medicine Initiative, Department of Medical Research, China Medical University Hospital, 2, Yu-Der Road, North District, Taichung 40447, Taiwan","institution_ids":["https://openalex.org/I4210126829"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5057279205","display_name":"Shih\u2010Sheng Chang","orcid":"https://orcid.org/0000-0002-1664-4818","observed_orcids":["https://orcid.org/0000-0002-1664-4818"]},"institutions":[{"id":"https://openalex.org/I4210126829","display_name":"China Medical University Hospital","ror":"https://ror.org/0368s4g32","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210126829"]}],"countries":["TW"],"is_corresponding":true,"raw_author_name":"Shih-Sheng Chang","raw_affiliation_strings":["Division of Cardiovascular Medicine, Department of Medicine, China Medical University Hospital, 2, Yu-Der Road, North District, Taichung 40447, Taiwan"],"raw_orcid":"https://orcid.org/0000-0002-1664-4818","affiliations":[{"raw_affiliation_string":"Division of Cardiovascular Medicine, Department of Medicine, China Medical University Hospital, 2, Yu-Der Road, North District, Taichung 40447, Taiwan","institution_ids":["https://openalex.org/I4210126829"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5057279205"],"corresponding_institution_ids":["https://openalex.org/I4210126829"],"apc_list":{"value":2900,"currency":"CHF","value_usd":3499},"apc_paid":{"value":2900,"currency":"CHF","value_usd":3499},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"27","issue":"22","first_page":"10086","last_page":"10086"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.9312000274658203,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.9312000274658203,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10618","display_name":"Aortic Disease and Treatment Approaches","score":0.0544000007212162,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.006399999838322401,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[],"concepts":[{"id":"https://openalex.org/C2780847584","wikidata":"https://www.wikidata.org/wiki/Q3616648","display_name":"Thoracic aortic aneurysm","level":4,"score":0.6575000286102295},{"id":"https://openalex.org/C2779993142","wikidata":"https://www.wikidata.org/wiki/Q594660","display_name":"Aortic dissection","level":3,"score":0.5773000121116638},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.5623999834060669},{"id":"https://openalex.org/C157410074","wikidata":"https://www.wikidata.org/wiki/Q6869145","display_name":"Minor allele frequency","level":5,"score":0.5534999966621399},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.5504000186920166},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5442000031471252},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5328999757766724},{"id":"https://openalex.org/C2777323849","wikidata":"https://www.wikidata.org/wiki/Q616003","display_name":"Aortic aneurysm","level":3,"score":0.5192000269889832},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.517300009727478},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4828999936580658},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.47290000319480896},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4417000114917755},{"id":"https://openalex.org/C2776098176","wikidata":"https://www.wikidata.org/wiki/Q189389","display_name":"Aneurysm","level":2,"score":0.43230000138282776},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.43209999799728394},{"id":"https://openalex.org/C67636389","wikidata":"https://www.wikidata.org/wiki/Q784237","display_name":"Genetic predisposition","level":3,"score":0.3736000061035156},{"id":"https://openalex.org/C2775862295","wikidata":"https://www.wikidata.org/wiki/Q2660911","display_name":"Dissection (medical)","level":2,"score":0.3601999878883362},{"id":"https://openalex.org/C146304588","wikidata":"https://www.wikidata.org/wiki/Q961652","display_name":"Case-control study","level":2,"score":0.3481000065803528},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.34200000762939453},{"id":"https://openalex.org/C149737253","wikidata":"https://www.wikidata.org/wiki/Q3240252","display_name":"Polymorphism (computer science)","level":4,"score":0.3262999951839447},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.32440000772476196},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.30720001459121704},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.30399999022483826},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.298799991607666},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2937999963760376},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2818000018596649},{"id":"https://openalex.org/C61470247","wikidata":"https://www.wikidata.org/wiki/Q7229825","display_name":"Population study","level":3,"score":0.2775999903678894},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.2639999985694885},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.263700008392334},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.2529999911785126}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.3390/ijms272210086","doi":"https://doi.org/10.3390/ijms272210086","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms272210086","pdf_url":null,"source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.3390/ijms272210086","doi":"https://doi.org/10.3390/ijms272210086","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms272210086","pdf_url":null,"source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W1980634292","https://openalex.org/W2008586203","https://openalex.org/W2023431960","https://openalex.org/W2053146170","https://openalex.org/W2094837502","https://openalex.org/W2099021682","https://openalex.org/W2108411344","https://openalex.org/W2131246162","https://openalex.org/W2135483029","https://openalex.org/W2155045727","https://openalex.org/W2170542922","https://openalex.org/W2430187835","https://openalex.org/W2887657552","https://openalex.org/W2915753741","https://openalex.org/W2923327939","https://openalex.org/W3095128678","https://openalex.org/W3108494539","https://openalex.org/W3126794108","https://openalex.org/W4307934708","https://openalex.org/W4323528157","https://openalex.org/W4380366931","https://openalex.org/W4385898438","https://openalex.org/W4403583456","https://openalex.org/W4405751340","https://openalex.org/W4408168023","https://openalex.org/W4411078170","https://openalex.org/W4415196179"],"related_works":[],"abstract_inverted_index":{"Thoracic":[0],"aortic":[1,20],"aneurysm":[2],"and":[3,10,28,53,64,124,139,182],"dissection":[4],"(TAAD)":[5],"is":[6,22],"a":[7,33],"fatal":[8],"disease":[9,21],"has":[11],"genetic":[12,42,174],"heritability.":[13],"Identifying":[14],"associated":[15,74,102],"loci":[16],"of":[17,44,134,166,176],"heritable":[18],"thoracic":[19],"therefore":[23],"crucial":[24],"for":[25],"early":[26],"screening":[27],"preventive":[29],"surgery.":[30],"We":[31],"conducted":[32],"two-step":[34],"single-center-based":[35],"genome-wide":[36,82],"association":[37,43],"study":[38,168],"to":[39,72,99,118],"evaluate":[40],"the":[41,60,81,86,94,130,152,156,173,179,185],"TAAD":[45,52,76,177],"in":[46,77,104,145,151,159,178],"Han-Taiwanese":[47,146,180],"population.":[48,106],"91":[49],"patients":[50],"with":[51,75,109],"910":[54],"gender-matched":[55],"controls":[56],"were":[57,116,141],"identified.":[58],"In":[59,85],"first":[61],"step,":[62,88],"WDR36":[63],"PPP4R1,":[65],"which":[66],"have":[67],"not":[68],"previously":[69,95],"been":[70],"reported":[71,96],"be":[73,119],"human":[78],"studies,":[79],"exceeded":[80],"significance":[83],"threshold.":[84],"second":[87],"we":[89],"focused":[90],"our":[91,105],"analysis":[92],"on":[93],"TAAD-related":[97],"genes":[98,108],"assess":[100],"their":[101],"risks":[103],"Three":[107],"seven":[110,128],"different":[111],"single":[112],"nucleotide":[113],"polymorphism":[114],"(SNP)s":[115],"found":[117],"significant,":[120],"including":[121],"COL5A2,":[122],"PRKG1":[123],"SMAD4.":[125],"Among":[126],"these":[127],"SNPs,":[129],"minor":[131],"allele":[132,160],"frequency":[133],"rs994493314,":[135],"rs1195959339,":[136],"rs375518580,":[137],"rs1054669161":[138],"rs1006794099":[140],"lower":[142],"than":[143],"1%":[144],"population":[147,181],"but":[148],"extremely":[149],"rare":[150],"general":[153],"population,":[154],"supporting":[155],"potential":[157],"differences":[158],"frequencies":[161],"across":[162],"populations.":[163],"The":[164],"result":[165],"this":[167],"provides":[169],"additional":[170],"insights":[171],"into":[172],"associations":[175],"helps":[183],"address":[184],"existing":[186],"knowledge":[187],"gap.":[188]},"counts_by_year":[],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2026-11-12T00:00:00"}