TY - JOUR
T1 - Association between BH3 interacting domain death agonist (BID) gene polymorphism and ossification of the posterior longitudinal ligament in Korean population
AU - Chon, Jinmann
AU - Hong, Jang Hyeok
AU - Kim, Jinsung
AU - Han, Yoo Jin
AU - Lee, Byoung Wook
AU - Kim, Soo Cheol
AU - Kim, Dong Hwan
AU - Yoo, Seung Don
AU - Kim, Hee Sang
AU - Yun, Dong Hwan
PY - 2014/2
Y1 - 2014/2
N2 - 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.
AB - 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.
KW - BID
KW - Disequilibrium
KW - Haplotype
KW - Linkage
KW - Ossification of the posterior longitudinal ligament
KW - Polymorphism
UR - http://www.scopus.com/inward/record.url?scp=84899459908&partnerID=8YFLogxK
U2 - 10.1007/s11033-013-2933-4
DO - 10.1007/s11033-013-2933-4
M3 - Article
C2 - 24398548
AN - SCOPUS:84899459908
SN - 0301-4851
VL - 41
SP - 895
EP - 899
JO - Molecular Biology Reports
JF - Molecular Biology Reports
IS - 2
ER -