title: Association between BH3 interacting domain death agonist (BID) gene polymorphism and ossification of the posterior longitudinal ligament in Korean population.
abstract: The purpose of this study was to investigate single nucleotide polymorphisms (SNPs) of the BH3 interacting domain death agonist (BID) gene as a risk factor in Korean patients with ossification of the posterior longitudinal ligament (OPLL). To investigate the genetic association, two coding SNPs (rs8190315, Ser10Gly; rs2072392, Asp60Asp) of BID were genotyped in 157 OPLL patients and 209 control subjects. SNPStats, SNPAnalyzer Pro, Helixtree, and Haploview 4.2 programs were used for association analysis. Multiple logistic regression models (codominant, dominant, and recessive) were calculated for the odds ratios (ORs), 95 % confidence intervals (CIs), and corresponding P values. For multiple testing, Bonferroni correction was performed. After Bonferroni correction, genotype analysis of both rs8190315 and rs2072392 showed association between the OPLL group and the control group in the codominant model (P = 0.042, OR 1.86, 95 % CI 1.10-3.15). A complete linkage disequilibrium block was estimated between the two SNPs. Both of the G allele of rs8190315 and C allele of rs2072392 were strongly associated with an increased risk in the development of OPLL (P = 0.0052, OR 2.66, 95 % CI 1.51-4.68). These results suggest that BID is associated with OPLL, and both the G allele of a missense SNP (rs8190315, Ser10Gly) and C allele of a synonymous SNP (rs2072392, Asp60Asp) are risk factors for the development of OPLL in Korean population.
authors.affiliation: Department of Physical Medicine & Rehabilitation, College of Medicine, Kyung Hee University, Seoul, 130-701, Republic of Korea.
authors.forename: Jinmann
authors.initials: J
authors.lastname: Chon
authors.forename: Jang-Hyeok
authors.initials: JH
authors.lastname: Hong
authors.forename: Jinsung
authors.initials: J
authors.lastname: Kim
authors.forename: Yoo Jin
authors.initials: YJ
authors.lastname: Han
authors.forename: Byoung Wook
authors.initials: BW
authors.lastname: Lee
authors.forename: Soo-Cheol
authors.initials: SC
authors.lastname: Kim
authors.forename: Dong Hwan
authors.initials: DH
authors.lastname: Kim
authors.forename: Seung Don
authors.initials: SD
authors.lastname: Yoo
authors.forename: Hee-Sang
authors.initials: HS
authors.lastname: Kim
authors.forename: Dong Hwan
authors.initials: DH
authors.lastname: Yun
mesh_terms: D000368:Aged; D000483:Alleles; D044466:Asian People; D051023:BH3 Interacting Domain Death Agonist Protein / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D015810:Linkage Disequilibrium; D017846:Longitudinal Ligaments / Q000473:pathology; D008297:Male; D008875:Middle Aged; D017887:Ossification of Posterior Longitudinal Ligament / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: D051023:BH3 Interacting Domain Death Agonist Protein; C494814:BID protein, human