title: TGFBR2 gene polymorphism is associated with ossification of the posterior longitudinal ligament.
abstract: This preliminary study assessed the association between ossification of the posterior longitudinal ligament (OPLL) and the transforming growth factor β receptor type 2 (TGFBR2) gene, with autoimmune disease examined as a possible underlying factor. Twenty-one patients diagnosed with OPLL and 42 control patients without OPLL (non-OPLL) were enrolled in the study. The TGFBR2 gene, composed of one promoter and seven exons, including the 5' untranslated region and flanking introns of each exon, was sequenced. Laboratory tests, including indirect immunofluorescence, were performed to detect autoimmune antibodies. The most common types of OPLL were the continuous (n=8, 38.1%) and segmental (n=8, 38.1%) types, with the fifth cervical veterbra (C5) the most common level of cervical spine involvement (n=15, 71.4%). In addition, significant associations between 455-4T→A (p=0.007) and 571G→A (p=0.024) gene variation and OPLL were found. The 95-35C→T variation in intron 1, a previously unreported variation, was also found in all patients with OPLL. Four patients revealed positive results for autoimmune antibodies and exhibited a nucleolar pattern by indirect immunofluorescence. Of these four patients, two were diagnosed with Sjogren's syndrome. The previously reported association of 455-4T→A and 571G→A polymorphisms of the TGFBR2 gene with OPLL was confirmed in this study. In addition, the 95-35C→T polymorphism in intron 1, which to our knowledge is a novel, previously unreported, nucleotide variation, was detected in all patients. Additional functional studies are required to verify the association between OPLL and the genetic variations found in this study.
authors.affiliation: Department of Laboratory Medicine, The Catholic University of Korea College of Medicine, Yeouido St. Mary's Hospital, 62 Yeouido-dong, Youngdeungpo-gu, 150-713 Seoul, Republic of Korea.
authors.forename: Dong Wook
authors.initials: DW
authors.lastname: Jekarl
authors.forename: Cheol-Min
authors.initials: CM
authors.lastname: Paek
authors.forename: Yeon Ju
authors.initials: YJ
authors.lastname: An
authors.forename: Yun Jin
authors.initials: YJ
authors.lastname: Kim
authors.forename: Myungshin
authors.initials: M
authors.lastname: Kim
authors.forename: Yonggoo
authors.initials: Y
authors.lastname: Kim
authors.forename: Jehoon
authors.initials: J
authors.lastname: Lee
authors.forename: Choon Ho
authors.initials: CH
authors.lastname: Sung
mesh_terms: D000328:Adult; D000368:Aged; D001323:Autoantibodies / Q000276:immunology; D001327:Autoimmune Diseases / Q000150:complications / Q000235:genetics / Q000276:immunology; D005260:Female; D005455:Fluorescent Antibody Technique; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D017887:Ossification of Posterior Longitudinal Ligament / Q000150:complications / Q000235:genetics* / Q000276:immunology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D001323:Autoantibodies; D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II