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.

Association of BID SNPs (rs8190315 and rs2072392) and clinical features of benign prostate hyperplasia in Korean population

“…There were three previous studies regarding the SNPs investigated in this study in Pubmed. rs8190315 was associated with the risk of breast cancer in European woman ( Gaudet et al, 2009 ), meanwhile, rs8190315 and rs2072392 were associated with the proteinuria levels of IgAN patients ( Park et al, 2014 ), and risk of developing OPLL in Korean population ( Chon et al, 2014 ). MAF of rs8190315 were 0.018 in European, 0.062 in Sub-Saharan African, 0.128 in Han Chinese, and 0.106 in Japanese; MAF of rs2072392 were 0.008 in European, 0.075 in Sub-Saharan African, 0.122 in Han Chinese, and 0.125 in Japanese.…”

“…They were searched from the SNP database in NCBI ( http://www.ncbi.nlm.nih.gov/SNP ), and reviewed to select the region in exons and near exons. Additionally, the two SNPs were previously studied polymorphism of BID in the Korean population ( Chon et al, 2014 ; Park et al, 2014 ). Peripheral blood of all patients were sampled in ethylenediaminetetraacetic acid blood tube, stored in −20°C freezer before the extraction of genomic DNA.…”

“…The BID gene polymorphisms may affect the development of immunoglobulin A nephropathy ( Park et al, 2014 ), and ossification of the posterior longitudinal ligament ( Chon et al, 2014 ). Moreover, BID expression is related to cellular reaction to cholesterol oxidation ( Jung et al, 2014 ), insulin resistance ( Alkhouri et al, 2010 ), effect of FTY720 to chronic myelogenous leukemia cells ( Kiyota et al, 2013 ), and interestingly, polymorphism of BID may be related to breast cancer ( Gaudet et al, 2009 ).…”

Polymorphism of Nitric Oxide Synthase 1 Affects the Clinical Phenotypes of Ischemic Stroke in Korean Population

“…We selected four, single nucleotide polymorphisms (SNPs) with greater than 0.1 heterozygosity among SNPs located in the coding regions or 3'-untranslated region (UTR) of the NOS1 gene which were searched at the dbSNP database ( http://www.ncbi.nlm.nih.gov/SNP ; dbSNP Build 131) [ 11 12 ]. SNPs with unknown heterozygosity, minor allele frequency below 4% were excluded.…”

Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies

“…Kim et al (2014) investigated the ACE gene, finding the deletion/deletion genotype of the intron 16 polymorphism (rs4646994) to be associated with an increased risk of developing radiological OPLL (AOR 2.20, p = 0.002) [15]. Similarly, two SNPs of the BID gene (rs8190315, rs2072392) were associated with the development of OPLL (OR 2.66, p = 0.005 for both) [18].…”