Association between the interaction of SMAD3 polymorphisms with body mass index and osteoarthritis susceptibility.
OBJECTIVE
This study aimed to investigate the relationship between the interaction of SMAD3 polymorphisms (rs12102171 and rs2289263) with body mass index (BMI) and osteoarthritis (OA) susceptibility.


METHODS
This study involved 112 OA patients and 120 healthy people. The controls were frequency-matched with the cases by age and sex. Hardy-Weinberg equilibrium (HWE) was tested by χ(2) test in the control group. The rs12102171 and rs2289263 polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The relative risk of OA was represented by odds ratio (OR) with 95% confidence interval (CI) calculated by chi-squared test. Gene-environment interaction was analyzed by crossover analysis.


RESULTS
The TT genotype and T allele of SMAD3 rs12102171 polymorphism were more frequent in case than control groups (P=0.04 in both of two polymorphisms), which increased the risk of OA (OR=3.39, 95% CI=1.03-11.11 and OR=1.64, 95% CI=1.03-2.59). GG genotype and G allele were also the risk factors for OA (OR=3.22, 95% CI=1.09-9.51 and OR=1.57, 95% CI=1.02-2.42). The BMI had interactions with genotype CC and CT+TT of rs12102171 and TT and TG+GG of rs2289263 (rs12102171: OR=2.15, P=0.02 and OR=3.99, P=1.00×10(-3); rs2289263: OR=2.73, P=4.00×10(-3) and OR=4.67, P=0).


CONCLUSIONS
CC and CT+TT and TT and TG+GG genotypes of SMAD3 rs12102171 and rs2289263 polymorphisms together with BMI may be susceptible factors to OA, and interactions there between can possibly confer risk to OA.
Department of Orthopaedics, Sengong Hospital of Shaanxi Xi'an 710300, Shaanxi, China.
Baolin
B
Kang
Department of Orthopaedics, Sengong Hospital of Shaanxi Xi'an 710300, Shaanxi, China.
Feng
F
Zhao
Department of Orthopaedics, Sengong Hospital of Shaanxi Xi'an 710300, Shaanxi, China.
Xin
X
Zhang
Department of Orthopaedics, Sengong Hospital of Shaanxi Xi'an 710300, Shaanxi, China.
Xiao
X
Deng
Department of Orthopaedics, The Second Affiliated Hospital, School of Medicine, Xi'an Jiaotong University 157# West 5 Road, Xi'an 710004, Shaanxi, China.
Xijing
X
He
D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D059647:Gene-Environment Interaction; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020370:Osteoarthritis, Knee / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D051900:Smad3 Protein / Q000235:genetics*
C497790:SMAD3 protein, human; D051900:Smad3 Protein
SMAD3; body mass index; osteoarthritis; polymorphism