{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T13:22:19Z","timestamp":1698758539273},"reference-count":36,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,10,31]],"date-time":"2005-10-31T00:00:00Z","timestamp":1130716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J Immunogenetics"],"published-print":{"date-parts":[[2005,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Autoimmune diseases such as Graves\u2019 disease and type 1 diabetes have been linked with +49A\/G and CT60 single nucleotide polymorphisms (SNPs) in the 3\u2032 UTR of the cytotoxic T\u2010lymphocyte antigen\u20104 (CTLA\u20104) gene. Both these SNPs are functionally relevant and linked with T\u2010lymphocyte activation. Hypoparathyroidism is seen in 70% of patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome (APECED). Although calcium sensing receptor autoantibodies (CaSRAb) and generalized activation of T lymphocytes are reported among patients with sporadic idiopathic hypoparathyroidism (SIH), CTLA\u20104 gene SNPs and APECED\u2010related autoimmune regulator (AIRE) gene mutations have not been assessed in them. We studied lead CTLA\u20104 gene SNPs and APECED\u2010related AIRE gene mutations in 73 patients with SIH and 114 healthy subjects. The CTLA\u20104 gene SNPs +49A\/G in exon 1, CT60A\/G in 3\u2032 UTR and \u2212318C\/T in the promoter region were genotyped by polymerase chain reaction\u2010restriction fragment\u2010length polymorphism (PCR\u2010RFLP) using <jats:italic>BstE<\/jats:italic>II, <jats:italic>Nco<\/jats:italic>I and <jats:italic>Mse<\/jats:italic>I endonucleases, respectively. The APECED\u2010related AIRE gene mutations, which is R257X (Finn\u2010major) in exon 6, 4\u2010bp insertion and 13\u2010bp deletion in exon 8, and Iranian Jews population \u2018Y85C\u2019 mutation in exon 2, were studied by PCR\u2010RFLP (<jats:italic>Taq<\/jats:italic>\u2010I), PCR and nucleotide sequencing, respectively. CaSRAb were studied by immunoblotting. The frequencies of CTLA\u20104 A\/A<jats:sub>49<\/jats:sub>, A\/G<jats:sub>49<\/jats:sub> and G\/G<jats:sub>49<\/jats:sub> genotypes in the patients (47.9%, 38.4% and 13.7%) and controls (45.6%, 39.5% and 14.9%, respectively) and the frequencies of CT60 A\/A, A\/G, and G\/G genotypes in the patient (42.4%, 37.0% and 20.6%) and the control (38.6%, 40.4% and 21.0%, respectively) groups were not significantly different. The frequencies of various haplotypes including genetic loci +49A\/G and CT60 and frequencies of G alleles at these positions were comparable between patient and the control groups and its presence did not correlate with clinical and biochemical indices of the disease. None of the patients had APECED\u2010related AIRE gene mutations. Lack of significant difference in the pattern of CTLA\u20104 A\/G<jats:sub>49<\/jats:sub> and\/or CT60A\/G genotypes and absence of common APECED syndrome\u2010related AIRE gene mutations among patients and controls suggest that these sites do not play a role in the development of the SIH.<\/jats:p>","DOI":"10.1111\/j.1744-313x.2005.00545.x","type":"journal-article","created":{"date-parts":[[2005,10,31]],"date-time":"2005-10-31T16:53:51Z","timestamp":1130777631000},"page":"393-400","source":"Crossref","is-referenced-by-count":14,"title":["Polymorphisms at +49A\/G and CT60 sites in the 3\u2032 UTR of the CTLA\u20104 gene and APECED\u2010related AIRE gene mutations analysis in sporadic idiopathic hypoparathyroidism"],"prefix":"10.1111","volume":"32","author":[{"given":"R.","family":"Goswami","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Ray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Rani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Tomar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Sarin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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