Genetic polymorphism of PITX1 in susceptibility to knee osteoarthritis in a Chinese Han population: a case–control study

2010 ◽  
Vol 31 (5) ◽  
pp. 629-633 ◽  
Author(s):  
Jianbo Fan ◽  
Dongquan Shi ◽  
Jin Dai ◽  
Lunqing Zhu ◽  
Jianghui Qin ◽  
...  
2018 ◽  
Vol 12 (9) ◽  
pp. 2419-2425 ◽  
Author(s):  
Xue He ◽  
Li Wang ◽  
Linhao Zhu ◽  
Dongya Yuan ◽  
Yongjun He ◽  
...  

2019 ◽  
Vol 39 (1) ◽  
Author(s):  
Wenpeng Hui ◽  
Zhong Cao ◽  
Xiao Wang ◽  
Junfeng Zhu

Abstract Several studies have explored the association between matrix Gla protein (MGP) gene polymorphism and knee osteoarthritis (OA) risk; however, they obtained conflicting findings. The present study aims to explore the association of MGP gene polymorphism and OA risk in a Chinese Han population. A total of 256 patients with radiographic knee OA and 327 control subjects were recruited in this case–control study. The genotypes of MGP gene rs1800802 polymorphism was determined by standard PCR and restriction fragment length polymorphism (PCR-RLFP). In this case–control study, we observed that MGP gene rs1800802 polymorphism increased the risk of knee OA. Subgroup analyses also found that rs1800802 polymorphism was related to the elevated risk for knee OA among the female, smoker, drinker, and body mass index (BMI) ≥25 kg/m2 groups. In conclusion, this study shows that MGP gene rs1800802 polymorphism is associated with increased risk for knee OA in Chinese Han population and the rs1800802 polymorphism may be a diagnostic marker of radiographic knee OA.


2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Jiaao Gu ◽  
Jiesheng Rong ◽  
Fulin Guan ◽  
Liying Jiang ◽  
Shuqing Tao ◽  
...  

Background. The matrilin, especially matrilin-3 (MATN3), are reported to play important roles in the pathophysiology of osteoarthritis (OA). To explore the relationship between MATN3 SNP6 (rs8176070) and primary OA, we conducted a community-based case-control study.Methods. A total of 732 community residents aged 40–84 years participated in the community-based study in Northeast China. After taking physical and radiographic examinations, 420 of the residents were diagnosed OA (216 women and 204 men). The other 312 individuals without any symptoms of osteoarthritis or signs in the radiographs (156 women and 156 men) were considered as healthy controls. After obtaining the DNA of case and control groups, genotypes of the MATN3 SNP6 were determined by polymerase chain reaction followed by restriction enzyme digestion. The numbers of patients with different OA subtypes were also calculated.Results. The distribution of genotypes and alleles of the MATN3 SNP6 between OA patients and controls was different significantly. The BB carrier tends to be associated with the increased osteoarthritis (P= 0.025, OR = 1.724, 95% CI = 1.071–2.77), especially the knee osteoarthritis (P= 0.021, OR = 2.402, 95% CI = 1.141–5.060) and lumber osteoarthritis (P= 0.020, OR = 1.880, 95% CI = 1.103–3.204). Bb carrier increased hand osteoarthritis risk (P= 0.002, OR = 5.380, 95% CI = 1.828–15.835). The B allele might have an effect on the increased knee osteoarthritis (P= 0.000, OR = 3.143, 95% CI = 2.283–4.328).Conclusion. These findings suggest that the MATN3 gene polymorphism might be associated with osteoarthritis in the Chinese Han population.


2020 ◽  
Author(s):  
Bing bing Chen ◽  
Xian-E Peng ◽  
Jianhui Yan ◽  
Hewei Peng ◽  
Xiaoling Cai ◽  
...  

Abstract Background: A recent genome-wide copy number variations (CNVs) scan identified a 16q12.2 deletion that included the carboxylesterase 1 (CES1) gene, which is important in the metabolism of fatty acids and cholesterol. We aimed to investigate whether CES1 CNVs was associated with susceptibility to non-alcoholic fatty liver disease (NAFLD) in a Chinese Han population. Methods: A case-control study was conducted among 303 patients diagnosed with NAFLD and 303 age (± 5) and sex-matched controls from the Affiliated Nanping First Hospital of Fujian Medical University in China. The copy numbers of CES1 were measured using TaqMan quantitative real-time polymerase chain reaction (qPCR) and serum CES1 was measured using enzyme-linked immunosorbent assays. The Chi-squared test and a logistic regression model were used to evaluate the association between CES1 CNVs and NAFLD susceptibility. Results: The distribution of CES1 CNVs showed a higher frequency of CNVs loss (< 2) among patients; however, the difference was not significant (P = 0.05). After controlling for other known or suspected risk factors for NAFLD, CES1 CNVs loss was significantly associated with greater risk of NAFLD (adjusted OR = 2.75, 95% CI: 1.30–5.85, P = 0.01); while CES1 CNVs gain (>2) was not. There was a suggestion of an association between increased CES1 serum protein levels and CNVs losses among cases, although this was not statistically significant (P=0.07). Conclusions: Copy number losses (< 2) of CES1 contribute to susceptibility to NAFLD in the Chinese Han population.


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