摘要:目的:研究高血压病患者过氧化物酶体增殖物激活受体(PPAR)γ2基因Pro12Ala多态性与血糖水平之间的关系。方法:纳入177名原发性高血压患者,其中空腹血糖(FBG)lt;5.6 mmol/L组65例, FBG≥5.6 mmol/L组112例,收集一般资料;分别测定空腹及餐后2小时血糖、胰岛素;对PPARγ2 基因Pro12Ala多态性与各临床变量的关系进行研究。结果:FBGlt;5.6 mmol/L组和FBG≥5.6 mmol/L组Pro和Ala等位基因频率分别为0.333,0.034及0.602,0.031;PP和PA基因型频率分别为0.299,0.068及0.571,0.062;无AA型纯合子。以体重指数(BMI)分层后,BMIlt;25组内,FBG与PPARγ2基因型相关（P=0.029)。以基因型分组比较,PA组空腹血糖水平和胰岛素抵抗指数都低于PP组(Plt;0.05)。结论:成都地区高血压患者PPARγ2基因Pro12Ala多态性与空腹血糖水平相关,且携带Ala基因者空腹血糖水平较低,胰岛素抵抗较轻,推测该突变可能有减轻高血压病患者胰岛素抵抗,改善糖代谢异常的作用。Abstract: Objective:To study the association between the Pro12Ala polymorphism in peroxisome proliferatorsactivated receptorγ2 ( PPARγ2 ) gene and blood glucose levels in patients with primary hypertension. Methods：The Pro12Ala polymorphism in PPARγ2 was determined by polymerase chain reactionrestriction fragment length polymorphism (PCRRELP) in 177 subjects with primary hypertension of the Han people in Chengdu of China, including 65 subjects with fasting blood glucose (FBG)lt;5.6 mmol/L and 112 subjects with FBG≥5.6 mmol/L; the clinical characteristics including height, weight, OGTT(0h and 2h) of the subjects were detected and the realationship between the Pro12Ala polymorphism and the clinical characteristics were analysed. Results: The allele frequencies in the group with FBGlt;5.6 mmol/L and FBG≥5.6 mmol/L were 0.333, 0.602 for Pro and 0.034, 0.031 for Ala. The genotype frequencies were 0.299, 0.571 for PP and 0.068, 0.062 for PA, and there was no AA. In the group with BMIlt;25, the Pro12Ala polymorphism was associated with FBG （P=0.029). the Ala allele had a negative relationship to the FPG and insulin resistance index (IRI) (Plt;0.05).Conclusion: The data showed that the Pro12Ala polymorphism was associated with FBG., and The allele Ala probably had benefits to glycometabolic disturbance in patients with primary hypertension by declining insulin resistance.
ObjectiveTo systematically evaluate the association between MTHFR gene C677T polymorphism and susceptibility to young and middle-aged adult ischemic stroke among Chinese population. MethodsSuch databases as PubMed, EMbase, The Cochrane Library (Issue 11, 2013), CBM, CNKI, VIP and WanFang Data were systemically searched to collect case-control studies published from Jan 1990 to Dec 2013. RevMan 5.2 was used to quantitatively analyzed the qualified and included studies, the pooled odds ratio (ORs) with 95% confidence interval (CI) were calculated; Stata 12.0 software were used for sensitivity and publication bias analysis. ResultsA total of 10 studies were included, which involved 787 cases and 766 controls. The results of meta-analysis showed that, in overall young and middle-aged adult group (aged less than 60), individuals that carried T allele risked more with ischemic stroke than those carried C allele (OR=1.42, 95%CI 1.07 to 1.89, P=0.02); more susceptibility to ischemic stroke was found among people of TT genotype compared with those of CC genotype (OR=2.11, 95%CI 1.58 to 2.81, P=0.00), as well as those of TT+TC genotype compared with CC genotype (OR=1.97, 95%CI 1.55 to 2.51, P=0.00), and those of TT genotype compared with TC+CC genotype (OR=1.42, 95%CI 1.13 to 1.77, P=0.00). Increased risk was also observed in TT+TC genotype compared with CC genotype in young adult subgroup (aged less than 45) (OR=1.66, 95%CI 1.19 to 2.32, P=0.00). ConclusionMTHFR gene C677T polymorphism is significantly associated with susceptibility to young and middle-aged adult ischemic stroke among Chinese population, and more risk may exist in middle-aged adult population.
Objective To systematically review the correlation between polymorphism of DNA methyltransferase 1(DNMT1) rs16999593 and the susceptibility of breast cancer. Methods Databases such as PubMed, EMbase, Web of Science, Chinese Biomedical Literature Database, CNKI, WanFang, and VIP database were searched from inception to Mar. 2017 to collect case-control studies on the correlation between DNMT1 rs16999593 C/T polymorphism and the susceptibility of breast cancer. Two reviewers independently identified the literatures according to inclusion and exclusion criterias, extracted data, and assessed the quality of the included studies. The meta-analysis was performed by using RevMan 5.3 software. Results A total of 5 studies involving 1 741 cases and 1 917 control subjects were included. The results of meta-analysis showed that, dominate model ［TT+TC vs. CC: OR=0.63, 95% CI was (0.30, 1.30), P=0.21］, homozygous model ［TT vs. CC: OR=1.01, 95% CI was (0.70, 1.47), P=0.95］, heterozygous model ［TC vs. CC: OR=0.44, 95% CI was (0.18, 1.04), P=0.06］, and additive model ［T vs. C: OR=1.29, 95% CI was (0.90, 1.86), P=0.16］ were not significantly related to breast cancer, but recessive gene model was related to breast cancer ［TT vs. TC+CC: OR=1.74, 95% CI was (1.01, 3.00), P=0.04］. Conclusion The current studies showed that, DNMT1 rs16999593 TT genotype decreases the susceptibility of breast cancer.
ObjectiveTo investigate the relationship of the age-related maculopathy susceptibility 2 (ARMS2) A69S polymorphism and polypoidal choroidal vasculopathy (PCV), and to explore the distribution of risk allele in PCV and exudative age-related macular degeneration (wAMD). MethodsThis is a systemic review and meta-analysis. A literature research was performed in Pubmed, Embase, Web of Knowledge, Chinese national Knowledge Infrastructure and Wanfang Medicine Database by the key words of "ARMS2, LOC387715, A69S, rs10490924, age related macular degeneration, polypoidal choroidal vasculopathy, single nucleotide polymorphism". Case-control studies were included, while review, case report, or systemic reviews were excluded. The latest one of multiple articles was included only which published by the same group. The results of individual studies were pooled using the software Review Manager 5.1.4, and the correlation between allele frequencies, genotype and phenotype were analyzed. ResultsA total of 14 articles, consisting 2007 PCV patients, 1308 wAMD patients and 3286 controls were recruited. The pooled odds ratio (OR) in random-effects models for genotype TT versus wild homozygous genotype GG is 5.20 (95% CI: 3.90-6.95). Heterozygous genotype GT mildly increased the risk in affecting PCV, and the OR of GT versus GG is 1.85 (95% CI: 1.42-2.40. The frequency of T allele in wAMD was higher than in PCV, pool OR=1.60 (95% CI: 1.31-1.96). ConclusionsThe ARMS2 A69S variant is associated with PCV. Genotypes of TT and GT had an effect in increasing the risk of PCV, and the effect is even greater in genotype of TT. T allele had an effect in increasing the risk of PCV and wAMD, and the risk for wAMD is slightly greater than for PCV.
ObjectiveTo systematically evaluate the relationship between the-2548G/A polymorphism in the leptin gene and antipsychotic-induced weight gain (AIWG). MethodsLiterature for the relationship between the-2548G/A polymorphism in the leptin gene and AIWG was retrieved in electronic databases including PubMed, EMbase, CNKI and WanFang Data from establishment dates to June, 2013. Two reviewers independently screened studies according to the inclusion and exclusion criteria, extracted data and evaluated the methodological quality of the included studies. Then meta-analysis was performed using RevMan 5.2 software. ResultsA total of 7 case-control studies were included, involving 404 AIWG cases and 508 controls (patients with no significant changes of weight after taking antipsychotic drugs). The results of meta-analysis showed that, regarding the total population, the-2548G/A polymorphism of the leptin gene was not associated with AIWG (OR=1.16, 95%CI 0.70 to 1.93, P=0.57). After stratification analysis, according to Chinese or non-Chinese origin, the results showed that significant association was found between the-2548G/A polymorphism of leptin gene and AIWG for Chinese (OR=2.15, 95%CI 1.41 to 3.26, P=0.000 4) but not for non-Chinese (OR=0.69, 95%CI 0.45 to 1.07, P=0.10). ConclusionThe current evidence suggests that the-2548G/A polymorphism in the leptin gene is associated with increased risk of AIWG for Chinese. Due to limited quantity of the included studies, the aforementioned conclusion needs to be further validate by more high-quality and large-scale studies.
The association between single nucleotide polymorphism and disease is a typical representation of genetic association studies. Compared with the traditional dichotomous data, single nucleotide polymorphism data has its own characteristics, and 5 genetic models are commonly performed in meta-analysis. In this paper, we show how to use the " meta” package in R software to conduct meta-analysis of single nucleotide polymorphism research through examples.
Objective To explore the correlation between interleukin-6 (IL-6) 174G/C polymorphism and ischemic stroke risks. Methods Systematic searches of electronic databases as CBM, CNKI, PubMed, MEDLINE and EMbase were performed. Meta-analysis was conducted by using RevMan 5.1.2 and Stata 11.0 software. The pooled odds ratios (ORs) with 95% confidence intervals (95%CIs) were performed. Publication bias was tested by funnel plot, Egger’s regression test and Begg’s test. Sensitivity analysis was made by repeating the fixed effects model or random effects model Meta-analysis with each of the studies individually removed. Results A total of 11 publications with 12 studies were identified. The results of meta-analyses showed no significant difference was found in the correlation between IL-6 174G/C polymorphism and ischemic stroke risks (for G/C vs. G/G: OR=0.98, 95%CI 0.78 to 1.24; for C/C vs. G/G: OR=0.75, 95%CI 0.38 to 1.50; for dominant inheritance model: OR=0.93, 95%CI 0.68 to 1.28; for recessive inheritance model: OR=0.80, 95%CI 0.45 to 1.42). In the subgroup analyses on ethnicity, no significant correlation was found. But in the subgroup analyses on source of control population, the hospital-based subgroup showed IL-6 174G/C polymorphism was the protective factor of ischemic stroke (for G/C vs. G/G: OR=0.56, 95%CI 0.40 to 0.79; for C/C vs. G/G: OR=0.17, 95%CI 0.11 to 0.27; for dominant inheritance model: OR=0.40, 95%CI 0.29 to 0.55; for recessive inheritance model: OR=0.24, 95%CI 0.16 to 0.37). Conclusion Meta-analysis bly suggests that the correlation between IL-6 174 G/C polymorphism and ischemic stroke is not significantly different.