Objective To analyze literatures reported allele frequencies of CYP2C191,2,3 for healthy Asian populations, and to provide evidence-based data for further personalized drug therapy and pharmacogenomics research. Methods Relevant articles were electronically retrieved from digital databases of PubMed, EMbase, The Cochran Library, CNKI, WanFang Data, VIP and CBM, and the articles reporting the allele frequencies of CYP2C19 were included. According to the inclusion and exclusion criteria, the data of the allele frequencies of the gene were extracted, pooled, and analyzed. Results A total of 41 articles were included, involving 9 841 healthy Asians from 17 countries. Analyses were conducted according to regional features, based on China, East Asia (China, Korea and Japan), Southeast Asia (Vietnam, Thailand, Malaysia, Singapore, Myanmar, Indonesia and Philippines), South Asia (India), and West Asia (Palestine, Lebanon, Saudi Arabia, Turkey, Iranian and Jordan). The major results showed that the allele frequencies of CYP2C191,2,3 were 61.3%, 32.1% and 6.6% (Chinese, n=4170); 61.0%, 31.2% and 7.8% (East Asians, n=5879); 67.6%, 28.8% and 3.7% (East South Asians, n=1985); 64.0%, 35.2% and 0.8% (South Asians, n=679); and 87.3%, 12.1% and 0.6% (West Asians, n=1298), respectively. Based on the included 9841 healthy Asians from 17 countries, the total allele frequencies of CYP2C191,2,3 were 66.0%, 28.4% and 5.5%, respectively. Conclusion The allele frequencies of CYP2C191,2,3 2 fairly differ in ethnic groups in China, as well as in regions in Asia. Besides, genetic variation is impacted by geographical factors such as regions and environment.
目的:探讨西南地区雌激素受体α（estrogen receptor α，ERα）基因多态性与原性肝癌关系。方法:选择西南地区100名原发性肝癌患者为实验组，100名非肝病人群作为对照组。应用分子生物学的方法分析PvuⅡ，XbaⅠ限制性片段长度多态性（restriction fragment length polymorphism，RFLP）。同时对人雌激素受体基因上游的短串联重复序列（short tandem repeat，STR）进行纯化、克隆和序列分析，观察ERα基因多态性基因型在实验组与对照组中的基因型分布。结果:PvuⅡ和XbaⅠ限制性片段长度多态性在两组中均呈多态性分布。病例组TA13等位基因频率高于对照组，差异有显著性，TA15等位基因频率低于对照组，差异有显著性。结论:ERα基因多态性与原性肝癌有关，X等位基因可能是其危险因素，P等位基因可能是其保护因素，TA13等位基因可能是其危险因素，TA15等位基因可能是其保护因素。
Objective To investigate the relationship between human leukocyte antigen(HLA)-B51 and Behcet′s disease (BD) with uveities. Methods HLA-A and HLA-B antigen of 27 pateints with BD and 30 healthy persons were detected by microly mphocyte toxicity asssay. HLA-B51 allele (HLA-B5101-B5107) in BD patients with positive HLA-B51 antigen and the controls was detected by polymerase chain reaction-sequence specific primer(PCR-SSP). Results The positive rate of HLA-B51 was 63% and 16.7% in BD patients and the controls, respectively (χ2=12.9, P＜0.001, Pc＜0.05,RR=8.5). Uveities was found in 11 out of 27 BD patients with uveitis. No relativity was found between HLA-B51 and uveitis in BD patients(RR=2.07,χ2=0.759,P＞0.25),and weak association was found between HLA=B5101 and uveitis (RR=2.67, χ2=1.395, P＞0.10). Conclusions HLA-B51 might be a susceptible gene for BD, and there was a weak association between HLA-B51(HLA-B5101) and BD patients with uveitis.(Chin J Ocul Fundus Dis，2004，20：203-205)
Objective To investigate the association between polymorphism of S2 locus allele in ADAM33 gene and bronchial asthma in Xinjiang Uygur population.Methods PCR-RFLP was used to determine polymorphismof S2 locus allele in ADAM33 gene in 131 Uygur patients with bronchial asthma ( asthma group) and 90 Uygur healthy individuals ( control group) .Results The comparison of three genotypes and allele frequency of the S2 in the ADAM33 gene had statistical significance in the asthma group and the control group ( X2 =6. 065, P lt;0. 05;X2=5. 255, P lt;0. 025) . The G allele of S2 site increased the risk of asthma( OR =1. 616, P lt;0. 05) . The CG genotype also increased the risk of asthma ( OR= 1. 351,P lt;0. 05) . The FEV1% pred and FVC% pred had significant difference between three genotypes of the S2 site in the ADAM33 gene in the asthma group ( F = 6. 248, P lt; 0. 01; F = 7. 067, P lt; 0. 01) .Conclusion The polymorphism of the S2 site in the ADAM33 gene has significant correlation with asthma in Xinjiang Uygur population, and can increase risk of asthma in the Uygur population.
ObjectiveTo investigate the association of high density lipoprotein cholesterol (HDL-C) and cholesterol ester transfer protein (CETP) TaqIB mutation with non-arteritic anterior ischemic optic neuropathy (NA-AION) in the Shaanxi Han ethnic population. MethodsThe study cohort consisted of 45 individuals that had been diagnosed with NA-AION and 45 healthy controls (matched for age, gender). None of the cases or controls had a history of diabetes, serious cardio-cerebral vascular diseases, liver and kidney dysfunction that might influence plasma lipid levels. Plasma HDL-C was detected by enzyme-linked immunosorbent one-step, through the Toshiba TBA-40FR automatic biochemical analyzer. CETP TaqIB gene polymorphism was determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques for analysis. B2B2 genotype was only a fluorescence band with 535 bp; B1B1 genotype was 2 fluorescence bands with 361, 174 bp; B1B2 genotype was 3 fluorescence bands with 535, 361, 174 bp. The relative risk of genotype, HDL-C and disease occurrence was analyzed by logistics regression analysis. ResultsThere have no significant difference between NA-AION patients and controls about plasma total cholesterol level and triglyceride level (t=1.907, 1.877; P > 0.05). The plasma HDL-C levels were significantly lower in NA-AION patients than in controls (t=2.367, P=0.022). Compared with controls, the prevalence of B1B1 genotype and B1 allele was higher (χ2=17.289, P=0.001), the prevalence of B2 allele (χ2=15.648, P=0.000) was lower in NA-AION patients. The lower concentration of HDL-C was risk factor of NA-AION (odds ratio=6.143, 95% confidence interval 1.262-29.895, χ2=27.676;P=0.013). The proportion of B1B1 genotype was significantly higher in NA-AION patients than in controls (odds ratio=2.24, 95% confidence interval 2.427-36.323, χ2=10.526; P=0.001). ConclusionsThe low plasma HDL-C is independent risk factor for NA-AION and is associated with the development of NA-AION in the Shaanxi Han ethnic population. CETP TaqIB mutation is associated with low plasma HDL-C in NA-AION in the Shaanxi Han ethnic population.
ObjectiveIt has been reported that many different kinds of antiepileptic drugs (AEDs) induced cutaneous adverse drug reactions (cADRs) are associated with human leukocyte antigen (HLA) genes. However, previous studies mainly focused on the traditional AEDs. There are very few research focused on the new AEDs, especially levetiracetam (LEV). This study aimed to evaluate the clinical characteristics of LEV-induced cADRs and to explore its possible genetic association with the HLA alleles. MethodsNine cases with LEV-induced cADRsfrom September 2011 to December 2014 were recruited. Demographic and clinical information of these cases was summarized. Additionally, cases were matched with LEV-tolerant controls (1 : 4).High-resolution HLA-A, -B, -DRB1 genotyping were performed for each subject. The allele frequencies between the cases and controls were compared. ResultsNine cases with LEV-induced cADRs formed the LEV-cADRs group. And 36 epilepsy patients who had received or have been receiving LEV treatment for at least 3 months without any adverse drug reactions formed the LEV-tolerant controls group. All LEV-induced cADRs were mild skin rashes whichoccurred within 30 days of LEV exposure. The mean latency from LEV exposure to skin rash was (15.67±5.41) days (ranging 6~27). Two patients in the LEV-cADRs group carried the HLA-DRB1*0405allele, while none subjects in the control group carried this allele. The carrier rate of HLA-DRB1*0405 allele between the LEV-cADRs group and control group was statistical significant [P=0.036, OR=13.875, 95%CI(1.273, 151.230)]. ConclusionsSafety monitoring was necessary within four weeks after the initiation of LEV treatment, although it has been regarded as a safe AED.Our study suggested thatHLA-DRB1*0405 allele may be a risk factor for LEV-induced cADRs. However, the Further studies with large samples are needed to clarify this hypothesis and the genetic and immunological mechanisms of LEV-induced cADRs should also be further explored in the future.