Single nucleotide polymorphisms in the CD40 gene associate with the disease susceptibility and severity in knee osteoarthritis in the Chinese Han population: a case-control study.
This study explored the association between single nucleotide polymorphisms (SNPs) in the CD40 gene, rs4810485 G > T and rs1883832 C > T, as well as disease susceptibility and severity in knee osteoarthritis (KOA) in the Chinese Han population.



Peripheral venous blood was collected from 133 KOA patients (KOA group) and 143 healthy people (control group) from December 2012 to November 2013. The patients in the KOA group were classified into mild, moderate and severe groups according to disease severity. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to test the genotypes of all subjects. Binary logistic regression analyses were performed to analyze the risk factors for KOA.



The KOA group was significantly different from the control group in living environment (P < 0.05). The KOA group had a lower frequency of TT genotype and T allele distribution of rs4810485 G > T compared with the control group, and rs4810485 G > T TT genotype and T allele may associate with low incidence of KOA (all P < 0.05). Besides, T allele and mutant homozygous TT genotype of rs1883832 C > T increased the susceptibility to KOA. Genotype and allele distribution of rs4810485 G > T and rs1883832 C > T were significantly different among the mild, moderate and severe groups (P < 0.05). There were more patients with rs4810485 G > T GG genotype and rs1883832 C > T TT genotype in the severe group than other genotypes of these two SNPs. According to binary logistic regression analysis, rs4810485 G > T TT genotype could alleviate disease severity in KOA, rs1883832 C > T TT genotype increase the severity of KOA and living environment is an important external factor that affects KOA severity.



These data provide evidences that rs4810485 G > T and rs1883832 C > T in the CD40 gene may be associated with disease susceptibility and severity in KOA.
Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, 410008, China.
Zhen-Han
ZH
Deng
Department of Orthopaedics, Affiliated Hospital, Logistics University of Chinese People's Armed Police Forces, Tianjin, 300162, China.
Ming-Hua
MH
Sun
Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, 410008, China.
Yu-Sheng
YS
Li
Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, 410008, China.
Wei
W
Luo
Department of Emergency Medicine, Xiangya Hospital, Central South University, Changsha, 410008, China.
Fang-Jie
FJ
Zhang
Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, 410008, China.
Jian
J
Tian
Department of Emergency Medicine, Xiangya Hospital, Central South University, Changsha, 410008, China. xyyywp@163.com.
Ping
P
Wu
Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, 410008, China. 13787043132@163.com.
Wen-Feng
WF
Xiao
D000368:Aged; D044466:Asian People / Q000235:genetics; D019013:CD40 Antigens / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D059647:Gene-Environment Interaction; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020370:Osteoarthritis, Knee / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012720:Severity of Illness Index
D019013:CD40 Antigens
CD40; Knee osteoarthritis; Rs1883832 C > T; Rs4810485 G > T; Severity; Single nucleotide polymorphism; Susceptibility