{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T22:52:11Z","timestamp":1781304731549,"version":"3.54.1"},"reference-count":32,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2003,2,1]],"date-time":"2003-02-01T00:00:00Z","timestamp":1044057600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Lupus"],"published-print":{"date-parts":[[2003,2]]},"abstract":"<jats:p>\n                    We report an association between a non-familial form of photosensitive Lupus-specific                 skin disease, subacute cutaneous lupus erythematosus (SCLE), and a new single                 nucleotide polymorphism (SNP) in the C1QA gene. We also describe an association                 between this SNP and lower levels of serum C1q. This SNP consists of adenine                 replacing the third guanine in the codon for amino acid residue Gly70 (position                 excludes the 22 amino acid leading peptide) that is located in the second exon of                 the C1QA gene. We have designated this SNP C1qA - Gly70\n                    <jats:sub>GGA<\/jats:sub>\n                    (the GenBank                 sequence at this location is C1qA - Gly70\n                    <jats:sub>GGG<\/jats:sub>\n                    ). A survey of 19 SCLE                 patients showed that 11 (58%) were homozygous for C1qA - Gly70\n                    <jats:sub>GGA<\/jats:sub>\n                    SNP,                 seven (37%) were heterozygous, and only one patient (5%) was homozygous for the                 GenBank sequence. In contrast, only 13 of 62 (21%) normal controls were homozygous                 for the C1qA - Gly70\n                    <jats:sub>GGA<\/jats:sub>\n                    SNP, 41 (66%) controls were heterozygous and                 eight (13%) controls were homozygous for the GenBank sequence. Thus, the C1qA -                 Gly70\n                    <jats:sub>GGA<\/jats:sub>\n                    SNP is strongly associated with SCLE (P-value = 0.005 by                 chi-square analysis with Yates correction). This SNP would traditionally be                 classified as clinically silent as it does not encode a different amino acid.                 However, our studies have suggested that this SNP appears to be associated with a                 functional abnormality of C1q expression since its presence correlates inversely                 with serum levels of C1q antigenic protein in both SCLE patients and normal                 controls. The mechanism by which this phenotypic change is associated with the                 translationally silent (synonymous) C1qA - Gly70\n                    <jats:sub>GGA<\/jats:sub>\n                    genetic variation is                 currently unknown.\n                  <\/jats:p>","DOI":"10.1191\/0961203303lu329oa","type":"journal-article","created":{"date-parts":[[2003,3,3]],"date-time":"2003-03-03T23:57:19Z","timestamp":1046735839000},"page":"124-132","source":"Crossref","is-referenced-by-count":79,"title":["Homozygous single nucleotide polymorphism of the complement C1QA gene is                 associated with decreased levels of C1q in patients with subacute cutaneous lupus erythematosus"],"prefix":"10.1177","volume":"12","author":[{"given":"D M","family":"Racila","sequence":"first","affiliation":[{"name":"Department of Dermatology, University of Iowa Hospitals and Clinics, Iowa                         City, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C J","family":"Sontheimer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa                         City, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Sheffield","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa                         City, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J J","family":"Wisnieski","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine (Rheumatology), Cleveland VA Medical                         Center, Case Western Reserve University, Cleveland OH 44106, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Racila","sequence":"additional","affiliation":[{"name":"Holden Comprehensive Cancer Center, University of Iowa Hospitals and                         Clinics, Iowa City, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R D","family":"Sontheimer","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of Iowa Hospitals and Clinics, Iowa                         City, IA 52242, USA,"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2003,2]]},"reference":[{"key":"e_1_2_1_1_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1979.04010120007006"},{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0025-7125(16)30620-4"},{"key":"e_1_2_1_3_1","first-page":"189","volume-title":"Autoimmune Diseases of Skin","author":"Pellowski D","year":"2001","unstructured":"Pellowski D , Sontheimer RD. Subacute cutaneous lupus erythematosus. In: Hurtl M , (ed.). Autoimmune Diseases of Skin. Springer: Wien , 2001, pp 189-210."},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0198-8859(01)00264-6"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2249.2001.01438.x"},{"key":"e_1_2_1_6_1","first-page":"726","article-title":"Association of a promoter polymorphism of tumor necrosis factor-alpha with                         subacute cutaneous lupus erythematosus and distinct photoregulation of transcription","volume":"115","author":"Werth VP","year":"2000","unstructured":"Werth VP , Zhang W , Dortzbach K , Sullivan K. Association of a promoter polymorphism of tumor necrosis factor-alpha with subacute cutaneous lupus erythematosus and distinct photoregulation of transcription . J Invest Derm 2000; 115: 726-730 .","journal-title":"J Invest Derm"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2001.04339.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/096120339700600213"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.158.10.4525"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050464"},{"key":"e_1_2_1_11_1","first-page":"1140","article-title":"Complement. Second of two parts","volume":"344","author":"Walport MJ.","year":"2001","unstructured":"Walport MJ. Complement. Second of two parts . [Review.] New Engl J Med 2001; 344: 1140-1144 .","journal-title":"New Engl J Med"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2740481"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(91)90120-I"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(91)90532-X"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199501000-00003"},{"key":"e_1_2_1_15_1","first-page":"960","volume-title":"Manual of Clinical Laboratory Immunology","author":"Giclas PC","year":"1997","unstructured":"Giclas PC , Wisnieski JJ. Autoantibodies to complement components. In: Tan E (ed.). Manual of Clinical Laboratory Immunology. ASM Press: Washington, DC , 1997, pp 960-968."},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0171-2985(00)80089-3"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg775"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199412000-00004"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:5<301::AID-HUMU2>3.0.CO;2-G"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi972940a"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-0760(98)00157-5"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-0760(99)00098-9"},{"issue":"3","key":"e_1_2_1_22_1","first-page":"237","article-title":"The association between systemic Lupus erythematosus and deficiencies of                         the complement system","volume":"48","author":"Goerg S.","year":"2002","unstructured":"Goerg S. The association between systemic Lupus erythematosus and deficiencies of the complement system . Cell Mol Biol 2002; 48(3): 237-245 .","journal-title":"Cell Mol Biol"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2249.2000.01218.x"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.192.3.359"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2249.2001.01459.x"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11926-996-0066-7"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1996.359"},{"key":"e_1_2_1_28_1","doi-asserted-by":"crossref","first-page":"4734","DOI":"10.4049\/jimmunol.155.10.4734","article-title":"Non-sense and missense mutations in the structural genes of complement                         component C1q A and C chains are linked with two different types of complete                         selective C1q deficiencies","volume":"155","author":"Petry F","year":"1995","unstructured":"Petry F , Le DT , Kirschfink M , Loos M. Non-sense and missense mutations in the structural genes of complement component C1q A and C chains are linked with two different types of complete selective C1q deficiencies . J Immunol 1995; 155: 4734-4738 .","journal-title":"J Immunol"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00376120"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780390419"}],"container-title":["Lupus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1191\/0961203303lu329oa","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1191\/0961203303lu329oa","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T01:01:28Z","timestamp":1767661288000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1191\/0961203303lu329oa"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,2]]},"references-count":32,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,2]]}},"alternative-id":["10.1191\/0961203303lu329oa"],"URL":"https:\/\/doi.org\/10.1191\/0961203303lu329oa","relation":{},"ISSN":["0961-2033","1477-0962"],"issn-type":[{"value":"0961-2033","type":"print"},{"value":"1477-0962","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,2]]}}}