Association Of β-defensin-1 Gene Polymorphismis With Susceptibility To Periodontitis

Objective:To analysis the relationship between the single nucleotide polymorphism(SNPs)of the human beta-defense-1 gene 5’ UTR(rs1799946,rs1800972 and rs11362)and the susceptibility to chronic periodontitis in Han population of Liaoning,China,and there will be a deeper understanding from the genetic point of view on the pathogenesis of periodontitis molecular genetic mechanism.Methods:We randomly enrolled 186 subjects in Department of Stomatology in Liaoning Province People’s hospital who three generations of the Han people was living in Liaoning,China,and the age of 35~75 years old was in control.The subjects were divided into two groups: 90 cases of chronic periodontitis(CP)in including severe CP in 44 cases and moderate CP in 46 cases,and 96 cases of healthy controls.From subjects who agreed to participate in the study,written informed consent was obtained before undergoing periodontal examinations.Case-control method was used for study.Record the clinical examinations including probing depth(PD),clinical attachment level(CAL),bleeding on probing(BOP).Genome DNA was extracted from subjects buccal swabs using the magnetic beads animal genomic DNA extraction kit.Polymerase chain reaction(PCR)amplified target fragment.Direct sequencing method was used to detect the DEFB1 gene-52A/G(rs1799946),-44C/G(rs1800972),-20A/G(rs11362)3sites of SNP.Statistical analyses were performed using SPSS22.0 software package.Results:1.General data: there were no significant differences in age,and other general data(P>0.05).2.Comparison of clinical periodontal indexes:The severe CP group showed significantly higher values of PD,CAL and BOP than the CP control group(P<0.01).The moderate CP group showed a significantly higher value of PD,CAL and BOP than the CP control(P<0.01).PD,CAL and BOP in severe periodontitis group were significantly higher than those in the moderate periodontitis group,the difference was statistically significant(P<0.05).3.Hardy-Weinberg equilibrium detection:The genotype distribution of these SNPs did not show any significant difference from Hardy–Weinberg equilibrium(P>0.05).4.Comparison of the frequency distribution of genotype and allele:The frequency of the-44 CC genotype of DEFB1 was higher in the periodontitis(81.1%)than in the controls(66.7%),and the difference was statistically significant(P<0.05,OR=2.510,95% CI:1.005-6.263).And allele C was significantly increased in patients with G who had a significant increase in the risk of periodontitis(P<0.05,OR=1.868,95% CI:1.049-3.327).There was no significant difference in the genotype distribution frequency,allele frequency and DEFB1 gene polymorphism between the moderate CP and the controls(P>0.05).The frequency of CC genotype was higher in cases with severe CP(86.4%)than the controls(66.7%),and the difference was significant(P<0.05,OR=3.167,95% CI:1.213-8.270).There was also significant difference in the frequency of C allele in patients with severe CP and controls,and the difference was statistically significant(P<0.05,OR=3.372,95% CI:1.369-8.309).Conclusion:1.The-44 CC genotype of DEFB1(rs1800972)5’ UTR was associated with periodontitis(OR=2.147),particularly with severe chronic periodontitis(OR R=3.167) in Han population of Liaoning.And allele C carriers had an increased risk of periodontitis.2.We demonstrated that the-52 G/A(rs1799946)and-20 G/A(rs11362)polymorphisms of β-defensin-1 5’ UTR were not related to periodontitis in Han population of Liaoning.