{"id":"https://openalex.org/W2884675802","doi":"https://doi.org/10.3923/pjbs.2018.119.126","title":"Cq1 Exon Polymorphisms in Caucasian and African American Systemic Lupus Erythematosus patients","display_name":"Cq1 Exon Polymorphisms in Caucasian and African American Systemic Lupus Erythematosus patients","publication_year":2018,"publication_date":"2018-03-15","ids":{"openalex":"https://openalex.org/W2884675802","doi":"https://doi.org/10.3923/pjbs.2018.119.126","mag":"2884675802","pmid":"https://pubmed.ncbi.nlm.nih.gov/30187721"},"language":"en","primary_location":{"id":"doi:10.3923/pjbs.2018.119.126","doi":"https://doi.org/10.3923/pjbs.2018.119.126","is_oa":true,"landing_page_url":"https://doi.org/10.3923/pjbs.2018.119.126","pdf_url":"https://scialert.net/qredirect.php?doi=pjbs.2018.119.126&linkid=pdf","source":{"id":"https://openalex.org/S49288575","display_name":"Pakistan Journal of Biological Sciences","issn_l":"1028-8880","issn":["1028-8880","1812-5735"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","medline","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4322697005","host_organization_name":"Asian Network for Scientific Information","host_organization_lineage":["https://openalex.org/P4322697005"],"host_organization_lineage_names":["Asian Network for Scientific Information"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pakistan Journal of Biological Sciences","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://scialert.net/qredirect.php?doi=pjbs.2018.119.126&linkid=pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5065582774","display_name":"Fawzi I. Irshaid","orcid":"https://orcid.org/0000-0003-0364-3135","observed_orcids":["https://orcid.org/0000-0003-0364-3135"]},"institutions":[{"id":"https://openalex.org/I52357470","display_name":"The Ohio State University","ror":"https://ror.org/00rs6vg23","country_code":"US","type":"education","lineage":["https://openalex.org/I52357470"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Fawzi Irshaid Irshaid","raw_affiliation_strings":["The Department of Internal Medicine, The Molecular, Cellular and Developmental Biology Program, The Davis Heart and Lung Research Institute, The Ohio State University, Columbus, OH 43210"],"raw_orcid":"https://orcid.org/0000-0003-0364-3135","affiliations":[{"raw_affiliation_string":"The Department of Internal Medicine, The Molecular, Cellular and Developmental Biology Program, The Davis Heart and Lung Research Institute, The Ohio State University, Columbus, OH 43210","institution_ids":["https://openalex.org/I52357470"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5102968572","display_name":"Daniel J. Birmingham","orcid":"https://orcid.org/0000-0002-6803-224X","observed_orcids":["https://orcid.org/0000-0002-6803-224X"]},"institutions":[{"id":"https://openalex.org/I31079310","display_name":"Al al-Bayt University","ror":"https://ror.org/028jh2126","country_code":"JO","type":"education","lineage":["https://openalex.org/I31079310"]}],"countries":["JO"],"is_corresponding":false,"raw_author_name":"Daniel Joseph Birmingham","raw_affiliation_strings":["Department of Biological Sciences, Faculty of Sciences, Al al-Bayt University, P.O.BOX 130040, Al-Mafraq 25113, Jordan","Department of Biological Sciences, Faculty of Science, Al al-Bayt University, P.O. Box 130040, Al-Mafraq 25113, Jordan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Sciences, Faculty of Sciences, Al al-Bayt University, P.O.BOX 130040, Al-Mafraq 25113, Jordan","institution_ids":["https://openalex.org/I31079310"]},{"raw_affiliation_string":"Department of Biological Sciences, Faculty of Science, Al al-Bayt University, P.O. Box 130040, Al-Mafraq 25113, Jordan","institution_ids":["https://openalex.org/I31079310"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.2128,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":{"value":0.54983442,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"21","issue":"3","first_page":"119","last_page":"126"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10308","display_name":"Systemic Lupus Erythematosus Research","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10308","display_name":"Systemic Lupus Erythematosus Research","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/T10993","display_name":"Complement system in diseases","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":9.999999747378752e-05,"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":[{"id":"https://openalex.org/keywords/systemic-lupus-erythematosus","display_name":"systemic lupus erythematosus","score":0.9789999723434448},{"id":"https://openalex.org/keywords/c1q","display_name":"C1q","score":0.9089999794960022},{"id":"https://openalex.org/keywords/c1qa","display_name":"C1QA","score":0.9549999833106995},{"id":"https://openalex.org/keywords/c1qb","display_name":"C1QB","score":1.0},{"id":"https://openalex.org/keywords/c1qc","display_name":"C1QC","score":1.0},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.9769999980926514},{"id":"https://openalex.org/keywords/synonymous-snps","display_name":"synonymous SNPs","score":0.800000011920929},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.8730000257492065},{"id":"https://openalex.org/keywords/protective-genotype","display_name":"protective genotype","score":0.597000002861023},{"id":"https://openalex.org/keywords/african-americans","display_name":"African Americans","score":0.7960000038146973},{"id":"https://openalex.org/keywords/caucasians","display_name":"Caucasians","score":0.8399999737739563},{"id":"https://openalex.org/keywords/exon-sequencing","display_name":"exon sequencing","score":0.40400001406669617}],"concepts":[{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.889549970626831},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.7903763055801392},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.6596696376800537},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.612610936164856},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5641444325447083},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5202187895774841},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5159435868263245},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5086842179298401},{"id":"https://openalex.org/C168007829","wikidata":"https://www.wikidata.org/wiki/Q857299","display_name":"Restriction fragment length polymorphism","level":4,"score":0.441165566444397},{"id":"https://openalex.org/C91779695","wikidata":"https://www.wikidata.org/wiki/Q3780824","display_name":"Coding region","level":3,"score":0.43748152256011963},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.42499104142189026},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.4095510244369507},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3347311019897461}],"mesh":[{"descriptor_ui":"D001741","descriptor_name":"Black or African American","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008180","descriptor_name":"Lupus Erythematosus, Systemic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015922","descriptor_name":"Complement C1q","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D044465","descriptor_name":"White People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.3923/pjbs.2018.119.126","doi":"https://doi.org/10.3923/pjbs.2018.119.126","is_oa":true,"landing_page_url":"https://doi.org/10.3923/pjbs.2018.119.126","pdf_url":"https://scialert.net/qredirect.php?doi=pjbs.2018.119.126&linkid=pdf","source":{"id":"https://openalex.org/S49288575","display_name":"Pakistan Journal of Biological Sciences","issn_l":"1028-8880","issn":["1028-8880","1812-5735"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","medline","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4322697005","host_organization_name":"Asian Network for Scientific Information","host_organization_lineage":["https://openalex.org/P4322697005"],"host_organization_lineage_names":["Asian Network for Scientific Information"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pakistan Journal of Biological Sciences","raw_type":"journal-article"},{"id":"pmid:30187721","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30187721","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pakistan journal of biological sciences : PJBS","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.3923/pjbs.2018.119.126","doi":"https://doi.org/10.3923/pjbs.2018.119.126","is_oa":true,"landing_page_url":"https://doi.org/10.3923/pjbs.2018.119.126","pdf_url":"https://scialert.net/qredirect.php?doi=pjbs.2018.119.126&linkid=pdf","source":{"id":"https://openalex.org/S49288575","display_name":"Pakistan Journal of Biological Sciences","issn_l":"1028-8880","issn":["1028-8880","1812-5735"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","medline","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4322697005","host_organization_name":"Asian Network for Scientific Information","host_organization_lineage":["https://openalex.org/P4322697005"],"host_organization_lineage_names":["Asian Network for Scientific Information"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pakistan Journal of Biological Sciences","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2884675802.pdf","grobid_xml":"https://content.openalex.org/works/W2884675802.grobid-xml"},"referenced_works_count":26,"referenced_works":["https://openalex.org/W1537575434","https://openalex.org/W1820570900","https://openalex.org/W1852489937","https://openalex.org/W1872106660","https://openalex.org/W1889240260","https://openalex.org/W1896611923","https://openalex.org/W1964269733","https://openalex.org/W1969437812","https://openalex.org/W1984587156","https://openalex.org/W1986941515","https://openalex.org/W2026647479","https://openalex.org/W2040759013","https://openalex.org/W2051713980","https://openalex.org/W2054065273","https://openalex.org/W2056167202","https://openalex.org/W2063621190","https://openalex.org/W2065505163","https://openalex.org/W2077089592","https://openalex.org/W2092606926","https://openalex.org/W2102098190","https://openalex.org/W2139574551","https://openalex.org/W2142058826","https://openalex.org/W2143142289","https://openalex.org/W2146656611","https://openalex.org/W2187181884","https://openalex.org/W2254618780"],"related_works":["https://openalex.org/W2056167202","https://openalex.org/W2806324186","https://openalex.org/W4387352996","https://openalex.org/W2043681291","https://openalex.org/W2054065273","https://openalex.org/W2142058826","https://openalex.org/W2139574551","https://openalex.org/W4283702017","https://openalex.org/W2254618780","https://openalex.org/W4282915127"],"abstract_inverted_index":{"BACKGROUND:":[0],"C1q":[1,71],"protein":[2,7],"is":[3,249,258,274],"composed":[4],"of":[5,17,31,45,54,70,91,125,168,211,271],"three":[6,172],"chains":[8],"(A,":[9],"B":[10,73],"and":[11,74,82,93,98,108,113,144,147,155,182,198,221],"C)":[12],"that":[13,244],"are":[14,25],"the":[15,29,42,51,55,67,106,114,169,201,209,212,228,235,245],"products":[16],"separate":[18],"genes.":[19],"Genetic":[20],"deficiencies":[21],"in":[22,50,66,137,177,180,184,191,207,234,263],"C1Q":[23,56],"genes":[24,57],"important":[26],"factors":[27],"influencing":[28],"risk":[30],"systemic":[32],"lupus":[33],"erythematosus":[34],"(SLE).":[35],"Therefore,":[36],"this":[37,272],"study":[38,170],"aimed":[39],"to":[40,130,132],"investigate":[41],"possible":[43],"association":[44,273],"single":[46],"nucleotide":[47],"polymorphisms":[48],"(SNPs)":[49],"coding":[52],"region":[53],"with":[58,227,251],"SLE.":[59],"METHODS:":[60],"To":[61,121],"search":[62],"for":[63,200],"potential":[64],"SNPs":[65,115,127],"encoding":[68],"regions":[69],"A,":[72],"C":[75],"chains,":[76],"Cq1":[77],"exons":[78],"were":[79,103,116,128,135,189,215],"initially":[80],"amplified":[81],"directly":[83],"sequenced":[84],"from":[85,88],"leukocyte":[86],"DNA":[87],"a":[89],"subset":[90],"Caucasian":[92],"African":[94,142,153,267],"American":[95],"SLE":[96,139,219,254],"patients":[97,140,197,220],"healthy":[99,150],"controls.":[100],"The":[101,165,241,269],"sequences":[102],"analyzed":[104],"by":[105,118,158],"Phrap":[107],"Phred":[109],"software":[110],"analysis":[111],"system":[112],"identified":[117,171],"visual":[119],"inspection.":[120],"test":[122],"if":[123],"any":[124],"these":[126],"linked":[129],"susceptibility":[131],"SLE,":[133],"they":[134],"measured":[136],"210":[138],"((59":[141],"Americans":[143,154],"151":[145],"Caucasians)":[146,157],"129":[148],"matched":[149],"controls":[151,199,222,236],"(55":[152],"74":[156],"restriction":[159],"fragment":[160],"length":[161],"polymorphism":[162],"analysis.":[163],"RESULTS:":[164],"sequencing":[166],"phase":[167],"synonymous":[173],"SNPs:":[174],"Nucleotide":[175],"276G>A":[176,202],"C1QA,":[178],"66C>A":[179,204],"C1QB":[181],"129G>A":[183,213],"C1QC.":[185],"Statistically,":[186],"no":[187],"differences":[188],"found":[190],"genotype":[192,230,248],"or":[193,203],"allele":[194],"frequencies":[195,210],"between":[196,218],"SNP.":[205],"However,":[206],"Caucasians,":[208],"genotypes":[214],"significantly":[216],"different":[217],"(P":[223,237],"=":[224,238],"0.005),":[225],"specifically":[226],"GG":[229],"being":[231,261],"over":[232],"represented":[233],"0.004).":[239],"CONCLUSION:":[240],"results":[242],"show":[243],"homozygous":[246],"129GG":[247],"associated":[250],"protection":[252,257],"against":[253],"onset.":[255],"This":[256],"race":[259],"dependent,":[260],"observed":[262],"Caucasians":[264],"but":[265],"not":[266],"Americans.":[268],"mechanism":[270],"currently":[275],"unclear.":[276]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2018-08-03T00:00:00"}
