{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T13:29:54Z","timestamp":1760707794782},"reference-count":25,"publisher":"American Diabetes Association","issue":"3","content-domain":{"domain":["diabetesjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2007,3,1]]},"abstract":"<jats:p>Mutations in the LMNA gene (encoding lamin A\/C) underlie familial partial lipodystrophy, a syndrome of monogenic insulin resistance and diabetes. LMNA maps to the well-replicated diabetes-linkage region on chromosome 1q, and there are reported associations between LMNA single nucleotide polymorphisms (SNPs) (particularly rs4641; H566H) and metabolic syndrome components. We examined the relationship between LMNA variation and type 2 diabetes (using six tag SNPs capturing &amp;gt;90% of common variation) in several large datasets. Analysis of 2,490 U.K. diabetic case and 2,556 control subjects revealed no significant associations at either genotype or haplotype level: the minor allele at rs4641 was no more frequent in case subjects (allelic odds ratio [OR] 1.07 [95% CI 0.98\u20131.17], P = 0.15). In 390 U.K. trios, family-based association analyses revealed nominally significant overtransmission of the major allele at rs12063564 (P = 0.01), which was not corroborated in other samples. Finally, genotypes for 2,817 additional subjects from the International 1q Consortium revealed no consistent case-control or family-based associations with LMNA variants. Across all our data, the OR for the rs4641 minor allele approached but did not attain significance (1.07 [0.99\u20131.15], P = 0.08). Our data do not therefore support a major effect of LMNA variation on diabetes risk. However, in a meta-analysis including other available data, there is evidence that rs4641 has a modest effect on diabetes susceptibility (1.10 [1.04\u20131.16], P = 0.001).<\/jats:p>","DOI":"10.2337\/db06-0930","type":"journal-article","created":{"date-parts":[[2007,2,27]],"date-time":"2007-02-27T18:14:43Z","timestamp":1172600083000},"page":"879-883","update-policy":"http:\/\/dx.doi.org\/10.2337\/ada-journal-policies","source":"Crossref","is-referenced-by-count":26,"title":["Common Variation in the <i>LMNA<\/i> Gene (Encoding Lamin A\/C) and Type 2 Diabetes"],"prefix":"10.2337","volume":"56","author":[{"given":"Katharine R.","family":"Owen","sequence":"first","affiliation":[{"name":"Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, U.K"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher J.","family":"Groves","sequence":"additional","affiliation":[{"name":"Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, U.K"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert L.","family":"Hanson","sequence":"additional","affiliation":[{"name":"Phoenix Epidemiology and Clinical Research Section, National Institute of Diabetes and Digestive and Kidney Diseases, Phoenix, Arizona"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William C.","family":"Knowler","sequence":"additional","affiliation":[{"name":"Phoenix Epidemiology and Clinical Research Section, National Institute of Diabetes and Digestive and Kidney Diseases, Phoenix, Arizona"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan R.","family":"Shuldiner","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven C.","family":"Elbein","sequence":"additional","affiliation":[{"name":"Endocrinology Section, Medical Service, Central Arkansas Veterans Healthcare System, Little Rock, Arkansas"},{"name":"Division of Endocrinology and Metabolism, Department of Internal Medicine, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Braxton D.","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Froguel","sequence":"additional","affiliation":[{"name":"CNRS UMR 8090, Institut de Biologie de Lille, Lille, France"},{"name":"Faculty of Life Sciences, Imperial College, London, U.K"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maggie C.Y.","family":"Ng","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Chicago, Chicago, Illinois"},{"name":"Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin, Hong Kong SAR"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliana C.","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Medicine and Therapeutics, Chinese University of Hong Kong, Shatin, Hong Kong SAR"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiping","family":"Jia","sequence":"additional","affiliation":[{"name":"Shanghai Diabetes Institute, Department of Endocrinology and Metabolism, Shanghai Jiaotong University No. 6 People\u2019s Hospital, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Panos","family":"Deloukas","sequence":"additional","affiliation":[{"name":"Wellcome Trust Sanger Institute, Hinxton, U.K"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graham A.","family":"Hitman","sequence":"additional","affiliation":[{"name":"Centre for Diabetes and Metabolic Medicine, Bart\u2019s and the London Queen Mary\u2019s School of Medicine and Dentistry, London, U.K"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Walker","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Newcastle, Newcastle, U.K"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy M.","family":"Frayling","sequence":"additional","affiliation":[{"name":"Institute of Clinical and Biomedical Science, Peninsula Medical School, Exeter, U.K"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew T.","family":"Hattersley","sequence":"additional","affiliation":[{"name":"Institute of Clinical and Biomedical Science, Peninsula Medical School, Exeter, U.K"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleftheria","family":"Zeggini","sequence":"additional","affiliation":[{"name":"Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, 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