新生儿CYP2E1基因5′端RsaⅠ位点多态性和PON2基因148位点多态性与早产的关系

为探讨新生儿细胞色素P450 2E1(CYP2E1)基因多态性和对氧磷酶2(二乙基对硝基苯磷酸酯酶2)基因(PON2)148位点多态性对早产的影响,采用横断面调查方法,使用统一的调查表,由安庆市各县医院对入院分娩孕妇及其单胎、活产、早产和对照新生儿进行调查,共得到有效样本209个母亲-新生儿对。单因素分析结果显示：CYP2E1野生纯合子基因型( ／ )与突变纯合子基因型(-／-)／杂合子基因型( ／-)比较,对早产的影响不具有统计学意义。而PON2 Alal48Ala纯合子基因型与G1y148G1y纯合子基因型／Ala148 Gly杂合子基因型比较,对早产的影响具有显著的统计学意义。进一步分析CYP2E1基因5′端RsaⅠ位点多态性和PON2基因148位点多态性是否存在交互作用,结果显示：CYP2E1野生纯合子基因型和PON2 Ala148Ala纯合子基因型这一组合与参照组比较,对早产的影响有显著的统计学意义。基因CYP2E1 5′端Rsa I位点多态性与新生儿早产不相关,但基因PON2 148位点多态性与新生儿早产相关,且CPY2E1 5′端Rsa I位点多态性和PON2 148位点多态性之间对早产的影响存在交互作用。     

新生儿基因CYP2E1 5′端RsaⅠ和PON2311位点多态性与早产的关系

探讨新生儿基因细胞色素P450 2E1（CYP2E1）5‘端RsaI多态性和对氧磷酶2（二乙基对硝基苯磷酸酯酶2）基因311位点（PON2311）多态性对早产的影响。采用横断面调查方法,使用统一的调查表,由安庆市各县医院对入院分娩孕妇及其单胎,活产,早产和对照新生儿进行调查,共得到有效样本194个母亲－新生儿对。单因素分析结果显示：CYP2E1野生纯合子基因型（cut/cut)与突变纯合子基因型（uncut/uncut)/杂合子基因型（cut/uncut)比较,对早产的影响不具有统计学意义,而PONS2 Ser311Ser纯合子基因型与Cys311Cys纯合子基因型／Cys311Ser杂合子基因型比较,对早产的影响具有显著的统计学意义。进一步分析CYP2E15‘端RsaI位点多态性和PON2311位点多态性是否存在交互作用。结果显示：CYP2E1野生纯合子基因型和PON2 Ser311Ser纯合子基因型这一组合与参照组比较,对早产的影响具有显著的统计学意义。基因CYP2E15‘端Rsa I位点多态性与新生儿早产不相关,但基因PON2311位点多态性与新生儿早产相关,且CYP2E1 5‘端RsaI位点多态性和PON2311位点多态性之间对早产的影响存在交互作用。     

载脂蛋白E基因多态性与动脉粥样硬化性脑梗塞关系的研究

应用聚合酶链反应(PCR)扩增ApoE基因外显子4中编码112位和158位氨基酸的 DNA片段,将该长为292bp的PCR产物以HhaI酶切,根据其限制性片段长度多态性图谱确定ApoE基因型。对广东汉族人群的50例动脉粥样硬化脑梗塞(ACI)患者和50例健康对照者的ApoE基因多态性频率的研究结果表明:所研究的人群中,ApoE基因多态性频率与ACI没有关联。ACI患者中各基因型亚组之间血清TG和TC浓度无显著性差异。 Abstract:The polymerase chain reaction(PCR)and restriction fragment length polymorphism techniques(RFLPs)were used to study the relation between apolipoprotein E gene polymorphism and atherosclerotic cerebral infarction(ACI).A 292 bp DNA fragment containing codes for the 112 and 158 amino acid residues in the fourth exon of ApoE gene was amplified by PCR.The PCR products were digested with HhaI.The polymorphism patterns of Apo E gene,allele frequencies in 50 Chinese healthy and 50 patients with ACI,and the serum levels of TG and TC in the different subgenotypes of 50 patients with ACI were detected.,no statistical significant differences of alleles frequencies were found between the cases with ACI and the control,and no statistical significant differences of the serum levels of TG and TC were found among the different subgenotypes of 50 patients with ACI.These results suggested that ApoE gene polymorphism was not associated with the development of ACI.     

ACE基因多态性与高血压肾脏损害及PAI-1的关系

为探讨血管紧张素转换酶（ACE）基因多态性与高血压肾损害和纤溶酶原激活物抑制物-1（PAI-1）的关系,应用聚合酶链反应（PCR）检测96例正常人、67例高血压无肾脏损害患者和70例高血压伴肾损害患者的ACE基因型,采用ELISA法检测血浆PAI-1。ACE基因I/D多态性与高血压病无明显相关,但高血压肾损害患者DD基因型频率及D等位基因频率显著高于对照组和高血压无肾脏损害组,χ2值分别为6.8589、5.6162 和5.9085、5372。血浆PAI-1在DD型、ID型、II型高血压患者之间亦有显著性差异（P＜0.05）。ACE基因DD型可能是高血压肾损害的危险因素;ACE基因多态性与血浆PAI-1水平相关。 Abstract:The work is to explore the relationship between the polymorphism of angiotensin converting enzyme(ACE) gene and hypertensive kidney lesion/PAI-1 in hypertension patients.ACE genotyping with polymorase chain reaction (PCR) was performed in 96 unrelated healthy controls,67 hypertensives without kidney lesion and 70 hypertensives complicated with kidney lesion.The plasma PAI-1 were determined with ELISA.No significant differences could be detected between ACE gene I/D polymorphism and hypertension.However,the frequencies of DD genotype and deletion allele among the hypertensives complicated with kidney lesion were higher than those among the healthy controls and those among the hypertensives without kidney lesion."χ2" values were 6.8589,5.6162 and 5.9085,5.372 respectively.The plasma PAI-1 level showed significant differences among DD genotype,ID genotype and II genotype(P＜0.05).The DD genotype of ACE gene may be a risk for hypertensive kidney lesion.The plasma PAI-1 level is associated with ACE gene polymorphism.     

2 型糖尿病家系患者PON2 基因9 Ser311C→G 多态性的研究*

目的:研究黑龙江地区汉族人2型糖尿病家系的PON2基因9 Ser311C→G多态性,探讨其与2型糖尿病发病的关系。方法:应用聚合酶链式反应-限制性内切酶长度多态性(PCR-RFLP)技术,对来自于黑龙江地区120个2型糖尿病家系中的210例2型糖尿病患者及319例正常对照的PON2基因9 Ser311→Cys(C→G)位点进行基因分型。结果:PON2基因9 Ser311C→G三种基因型在病例组和对照组间整体分布没有统计学意义(P=0.610,df=2);各基因型及等位基因在病例组和对照组间分布没有统计学意义(P>0.05)。结论:PON2基因9 Ser311C→G多态性与黑龙江地区汉族人2型糖尿病无关,PON2基因可能不是中国人2型糖尿病发病的相关易感基因。     

飞行员中血管紧张素转换酶基因插入或缺失多态性研究

为了解飞行员血管紧张素转换酶(ACE)基因插入或缺失（I/D）多态性情况,探讨ACE基因多态性与飞行员耐力可能的关系,用聚合酶链反应（PCR）扩增技术检测118例飞行员和96例健康对照者的ACE基因I/D多态性。 结果位于ACE基因内含子16的I/D多态性经PCR扩增后呈三种基因型：纯合子插入型（II）、纯合子缺失型（DD）和杂合子插入或缺失型（I/D）。飞行员组II基因型（44.07%）和I等位基因频率（0.65）显著高于健康对照组(分别为31.25%和0.52)。 结果表明ACE I基因有可能在飞行员的飞行耐力中起重要作用。 Abstract:In order to understand insertion/delation (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene in pilots,and to explore the relationship between ACE gene I/D polymorphism and the perfomance of the pilots,the polymerase chain reaction (PCR) was used to determine the genotypes for an I/D polymorphism in intron 16 of the ACE gene in 118 pilots and 96 healthy subjects as controls.The result showed that the I/D polymorphism in intron 16 of the ACE gene was categorized into three genotypes: two deletion alleles (genotype DD),heterozygous alleles (genotype ID),and two insertion alleles (genotype II).The genotype II and I allele frequency were significantly higher in pilots (44.07% and 0.65) than that in healthy subjects (31.25% and 0.52).It is suggested that I gene of ACE may play a role in perfomance of the pilots.     

SNP与Hbb基因多态性的关联性

目的从单核苷酸多态性（single nucleotide polymorphism,SNP）水平探索小鼠生化标记基因Hbb多态性的形成机理。方法从DNA、RNA和蛋白多肽3个方面分析研究Hbb基因的多态性。结果基因组DNA中有4个SNP位点与Hbbd/s多态性相关：分别为外显子1中的2个T（G）,外显子2中的G（A）和外显子3中的A（G）;RNA水平有4个SNP位点与Hbbd/s多态性相关：分别对应为外显子1中的2个T（G）,外显子2中的G（A）和外显子3中的A（G）;蛋白多肽水平第13、20和139位氨基酸残基,即Cys/Gly、Ser/Ala和Thr/Ala间的转换与Hbb/s多态性相关,分别对应于外显子1中的2个T（G）和外显子3中的A（G）。结论第13、20和139位氨基酸残基,即Cys/Gly、Ser/Ala和Thr/Ala间的转换可能是Hbbd/s多态性的形成原因。     

Genetic Analysis of 17 Children with Hunter Syndrome:Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene

Mucopolysaccharidosis type II （MPS II） is a rare X-linked disorder caused by alterations in the iduronate-2-sulfatase （IDS） gene. In this study, IDS activity in peripheral mononuclear blood monocytes （PMBCs） was measured with a fluorimetric enzyme assay. Urinary glycosaminoglycans （GAGs） were quantified using a colorimetric assay. All IDS exons and intronic flanks were bidirectionally sequenced. A total of 15 mutations （all exonic region） were found in 17 MPS II patients. In this cohort of MPS II patients, all alterations in the IDS gene were caused by point nucleotide substitutions or small deletions. Mutations p.Arg88His and p.Arg172＊ occurred twice. All mu- tations were inherited except for p.Gly489Alafs＊7, a germline mutation. We found four new mutations （p.Ser142Phe, p.Arg233Gly, p.Glu430＊, and p.Ile360Tyrfs＊31）. In Epstein-Barr virus （EBV）-immortalized PMBCs derived from the MPS II patients, no IDS protein was detected in case of the p.Ser142Phe and p.Ile360Tyrfs＊31 mutants. For p.Arg233Gly and p.Glu430＊, we observed a residual expression of IDS. The p.Arg233Gly and p.Glu430＊ mutants had a residuary enzymatic activity that was lowered by 14.3 and 76-fold, respectively, compared with healthy controls. This observation may help explain the mild disease phenotype in MPS II patients who had these two mutations whereas the p.Ser142Phe and p.Ile360Tyrfs＊31 mutations caused the severe disease manifestation.     

中国地方鸡种血液淀粉酶Amy-1多态性

本文用聚丙烯酰胺水平凝胶电泳法测定了我国 10个地方鸡种的血液淀粉酶Amy-1多态性,发现我国地方鸡种Amy-1的AA、BB型纯合子基因型频率很低, AB型基因型频率很高,杂合子显著过量,且普遍存在Amy-1分布不平衡。还发现Amy-1A和Amy-1B两个等位基因频率在所有10个鸡种中几乎均为0.5。 Abstract:Blood amylase-1 polymorphism in 10 Chinese native chicken breeds was determined with polyacrylamide horizontal gel electrophoresis.It was found that both AA and BB genotype frequencies were very low,but AB genotype frequency was very high in Chinese native chicken breeds and that amylase-1 distribution in these breeds was widely deviated from Hardy-Weinberg equilibrum proportion.Both Amy-1A and Amy-1B gene frequencies were nearly 0.5 in all 10 breeds.     

Endothelial nitric oxide synthase gene intron 4, 27 bp repeat polymorphism and essential hypertension in the Kazakh Chinese population

To investigate the relationship between 27 bp repeat polymorphism in intron 4 in the endothelial nitric oxide synthase (eNOS4) gene and essential hypertension in the Kazakh Chinese population, 151 patients with essential hypertension and 138 healthy people were selected from the Boertonggu countryside of Shawan region in the Xinjiang Uygur Autonomous Region of China in 2006. The polymorphism of eNOS in the two groups was detected with polymerase chain reaction assays and the genotype frequencies in each group were calculated following the Hardy-Weinberg law. Four and five tandem 27 bp repeats were designated as "a" and "b", respectively. It was found that the frequencies of b/b, b/a and a/a genotypes of the eNOS4 gene were 84.06%, 15.22% and 0.72% in the control group, and 81.46%, 15.89% and 2.65% in the hypertension group, respectively. The frequencies of gene "b" and "a" were 91.67% and 8.33% in the control group and 89.40% and 10.60% in the hypertension group, respectively. It was found that plasma eNOS activity was not associated with genotypes and alleles of eNOS gene. Plasma eNOS activity in the hypertension group was significantly decreased compared with the control group (P<0.01). The results suggest that eNOS4 gene polymorphisms are unlikely to be the major genetic susceptibility factors for essential hypertension in the Xinjiang Kazakh population. However, a positive association between plasma eNOS activity and essential hypertension has been revealed.     

The polymorphism in insulin receptor substrate-1 gene and birth weight in neonates at term

BACKGROUND: The mutation of the IRS-1 gene is one of the genetic risk factors which, it is speculated, is associated with insulin resistance or predisposition to type 2 diabetes. The aim of our study was to evaluate the association between the Gly972Arg polymorphism in the IRS-1 gene and birth weight in newborn children with adequate gestational age. MATERIAL AND METHODS: 100 newborn children with adequate gestational age (38-42 weeks), whose mother had no disorders during pregnancy, were studied. Genomic DNA was extracted from umbilical cord blood leukocytes, and Gly972Arg polymorphism in the IRS-1 gene was genotyped using the PCR-based method. RESULTS: Birth weight was significantly lower in the newborn with the IRS-1 Gly972Arg polymorphism compared with a control group (3161.75 +/- 380.86 g vs. 3427.92 +/- 468.86 g). Body length and head circumference at birth were also lower in the neonates with that polymorphism (54.38 +/- 3.13 cm vs. 52.69 +/- 2.91 cm, and 34.08 +/- 1.47 vs. 33.63 +/- 0.81, respectively). CONCLUSIONS: The results suggest that the Gly972Arg genotype is associated with lower birth weight, body length and head circumference in neonates with adequate gestational age.     

PON基因簇潜在功能多态位点与冠心病的关联研究

在中国汉族人群PON基因簇序列筛查研究基础上,系统探讨PON基因簇所有潜在功能多态位点与国人冠心病的关系,以期明确PON基因簇序列变异是否国人冠心病的遗传危险因素。随机入选1997～1999年期间阜外心血管病医院病房收治的经冠状动脉造影确诊和/或有明确急性心肌梗塞病史男性冠心病患者474例及年龄(±2岁)匹配的男性健康对照475例。PCR产物直接测序法鉴定PON1基因-1076A/G、-908G/C、-831G/A、-162G/A、-126G/C和-107C/T多态基因型;等位基因特异性扩增方法鉴定PON2基因的A148G和S311C多态;PCR RFLP方法鉴定PON1基因R160G、Q192R和PON3基因-133C/A多态。单变量分析显示192Q, 160R,-162A和311C等位基因频率在病例组中显著高于对照组。以这4个多态性位点作为自变量的多元Logis tic回归分析发现仅R160G和-162G/A多态仍然与冠心病显著关联(P值分别为0.0054和0.0002),并独立于冠心病传统危险因素。不同多态组合的单体型分析进一步证实了单一SNP分析的结果,只有包含160R或-162A 等位基因的单体型在病例组中的频率显著高于对照组。中国北方汉族人群中,PON1基因-162G/A和R160G多态与冠心病独立关联,提示PON1基因可能是冠心病易感基因。     

R-carrying genotypes of serum paraoxonase (PON1) 192 polymorphism and higher activity ratio are related to susceptibility against ischemic stroke

The polymorphic gene of serum paraoxonase (PON1) and its activity involved in atherosclerosis. The purpose of the study was to analyze PON1 192 Q/R polymorphism and the enzyme activities in ischemic stroke. The polymorphism as the most common polymorphism in PON1 gene coding sequence is associated with variation in the enzyme activity and vascular disease. The study included 85 stroke patients and 71 control subjects. PON1 192 polymorphism was genotyped using PCR protocol. Paraoxonase activity (Para) and arylesterase activity (Aryl) were determined spectrophotometrically using paraoxon and phenylacetate as the substrates. The QR and RR genotypes were more frequent in stroke population compared to controls, resulting in a higher frequency of the R allele in patients (0.24 vs 0.18, OR?=?1.41). Patients had significantly higher Para/Aryl ratio than that of controls (P?=?0.016). In stroke patients, Para/Aryl and Para/HDL ratios increased with this order: QQ?<?QR?<?RR. Hypertension significantly increased the risk of ischemic stroke by 15-fold among R-containing people, while this was significantly increased 4-fold for QQ homozygotes. Smoking increased the risk of having ischemic stroke in both QQ homozygote and QR?+?RR group (OR?=?2.84 and OR?=?2.33, respectively). In conclusion, these data highlight the importance of PON1 192 R allele and high Para/Aryl ratio in susceptibility to ischemic stroke in the population. The presence of the 192 R allele potentiates the risk of stroke especially in hypertensive people. Decreased Aryl and increased Para/Aryl, Para/HDL and Aryl/HDL ratios may be markers indicated the increased susceptibility to ischemic stroke in the population.     

PON基因簇序列变异筛查研究

摘要：系统筛查PON1、PON2及PON3基因编码、剪接及侧翼序列,以期发现所有潜在功能多态基因座,为进一步探讨PON基因家族与心血管疾病的关系做准备。随机选择48例冠心病患者作为筛查对象, 以PCR产物直接测序检测DNA序列变异。扩增片断涵盖整个外显子, 其两侧部分内含子区域及5’和3’侧翼序列。（1）13.9kb测序范围内共发现31个多态性基因座,均为单核甘酸多态（SNP）,其中17个SNP为首次报道。（2）国人中SNP构成和等位基因频率与高加索人群存在显著差异。（3）一个基因内部两个或多个多态性基因座间存在完全或近乎完全连锁不平衡相当常见。中国汉族人群中PON基因簇多个潜在功能多态基因座的识别及这些基因座间的强连锁不平衡状态,为在国人中探讨PON基因簇与心血管疾病关系提供了重要的基础数据。     

Association between birth weight in preterm neonates and the BclI polymorphism of the glucocorticoid receptor gene

Endogenous and exogenous glucocorticoids influence fetal growth and development, and maternal administration of synthetic glucocorticoids may decrease the risk of perinatal morbidity including lung disease in preterm neonates. Because polymorphisms of the glucocorticoid receptor gene are known to influence the sensitivity to glucocorticoids, in the present study we examined whether any associations could exist among the BclI, N363S and ER22/23EK polymorphisms of the glucocorticoid receptor gene and gestational age, birth weight and/or perinatal morbidity of 125 preterm neonates born at 28-35 weeks' gestation with (n=57) or without maternal dexamethasone treatment (n=68). The prevalence of the three polymorphisms in the whole group of preterm infants was similar to that reported in healthy adult Hungarian population. However, we found that the BclI polymorphism significantly associated with higher birth weight adjusted for the gestational age (p=0.004, ANOVA analysis). None of the three polymorphisms showed an association with perinatal morbidities, including necrotizing enterocolitis, intraventricular hemorrhagia, patent ductus arteriosus, respiratory distress syndrome, bronchopulmonary dysplasia and sepsis in the two groups of preterm neonates with and without maternal dexamethasone treatment. These results suggest that the BclI polymorphism of the glucocorticoid receptor gene may have an impact on gestational age-adjusted birth weight, but it does not influence perinatal morbidities of preterm neonates.     

A polymorphism in the beta1 adrenergic receptor is associated with resting heart rate

Resting heart rate is significantly associated with cardiovascular morbidity and mortality. However, the extent to which resting heart rate is genetically determined is poorly understood, and no genes have been found that contribute to variation in resting heart rate. Because signaling through the beta1 adrenergic receptor is a key determinant of cardiac function, we tested whether polymorphisms in this receptor are associated with resting heart rate. A cohort of >1,000 individuals of Chinese and Japanese descent, from nuclear families, was genotyped for two polymorphisms, resulting in a serine/glycine substitution at amino acid 49 (Ser49Gly) and an arginine/glycine substitution at residue 389 (Arg389Gly), in the beta1 adrenergic receptor. For comparison, polymorphisms in the beta2 and beta3 adrenergic receptors were also evaluated. The Ser49Gly polymorphism was significantly associated (P=.0004) with resting heart rate, independent of other variables, such as body-mass index, age, sex, ethnicity, exercise, smoking, alcohol intake, hypertension status, and treatment with beta blockers. The data support an additive model in which individuals heterozygous for the Ser49Gly polymorphism had mean heart rates intermediate to those of either type of homozygote, with Ser homozygotes having the highest mean heart rate and with Gly homozygotes having the lowest. Neither the Arg389Gly polymorphism in the beta1 adrenergic receptor nor polymorphisms in the beta2 and beta3 adrenergic receptors were associated with resting heart rate. The heritability of heart rate was 39.7% +/- 7.1% (P<10-7).     

DNA polymorphisms in two paraoxonase genes (PON1 and PON2) are associated with the risk of coronary heart disease.

A common polymorphism at codon 192 in the human paraoxonase (PON) 1 gene has been shown to be associated with increased risk for coronary heart disease (CHD) in Caucasian populations. However, these findings have not been reported consistently in all Caucasian and non-Caucasian populations, suggesting that this is not a functional mutation but may mark a functional mutation present in either PON1 or a nearby gene. Recently, two other PON-like genes, designated "PON2" and "PON3," have been identified, and they are linked with the known PON1 gene on chromosome 7. Identification of additional polymorphisms in the PON-gene cluster may help to locate the functional polymorphism. In this report, we describe the existence of a common polymorphism at codon 311 (Cys-->Ser; PON2*S) in the PON2 gene, as well as its association with CHD alone and in combination with the PON1 codon 192 polymorphism in Asian Indians. The frequency of the PON2*S allele was significantly higher in cases than in controls (.71 vs. .61; P=.016). The age- and sex-adjusted odds ratio (OR) was 2.5 (95% confidence interval &sqbl0;95% CI&sqbr0;=1.8-3.1; P=.0090) for the PON2*S allele carriers. Further stratification of the PON2*S association, on the basis of the presence or absence of the PON1*B allele, showed that the CHD risk associated with the PON2*S allele was confined to PON1*B-allele carriers. Likewise, the PON1*B-allele risk was present only among PON2*S carriers. Age- and sex-adjusted ORs for the PON2*S and PON1*B were 3.6 (95% CI=2.6-4.6; P=.011) and 2.9 (95% CI=2.4-3.5; P=.0002) among the PON1*B and PON2*S carriers, respectively. Our data indicate that both polymorphisms synergistically contribute to the CHD risk in this sample and that this genetic risk is independent of the conventional plasma lipid profile.     

The Arg194Trp polymorphism in the XRCC1 gene and cancer risk in Chinese Mainland population: a meta-analysis

The Arg194Trp polymorphism in the X-ray repair cross-complementing group 1 (XRCC1) gene has been proved to be in association with cancer risk in Chinese Mainland population, but a large number of studies have reported inconclusive results. A more comprehensive and precise estimation of the relationship is needed to clear the way towards future studies. Thus, we performed a meta-analysis to analysis these associations. A total of 34 case-control studies in 34 articles were included in this meta-analysis. The results showed that the 194Trp/Trp homozygote had a 31% increased risk of cancer than 194Trp/Arg and 194Arg/Arg genotypes, OR was 1.31 and 95%CI was 1.13 to 1.53. In the subgroup analysis by cancer sites, the Arg194Trp polymorphism was associated with increased risks of lung cancer (OR = 1.27 and 95%CI: 1.07-1.50 for Trp/Trp versus Arg/Arg + Arg/Trp) and esophageal cancer (OR = 1.68 and 95%CI: 1.33-2.13 for Trp/Trp versus Arg/Arg + Arg/Trp). This meta-analysis suggested that the Arg194Trp polymorphism of the XRCC1 gene is a cancer susceptible factor among Chinese Mainland population. More intensive and deeper studies are needed to further reveal the mechanism between Arg194Trp polymorphisms of XRCC1 gene and cancer risks in Chinese Mainland population.     

The Role of Paraoxonase 1 (PON1) Gene Polymorphisms in Coronary Artery Disease: A Systematic Review and Meta-Analysis

Although many studies have investigated the association of paraoxonase 1 (PON1) polymorphisms with coronary artery disease (CAD). However, the outcomes were not consistent and remain uncertain. Therefore, it is the need of the hour to analyze the available literature and evaluate the association of PON1 polymorphisms with the CAD. All the relevant studies published in the English language from January 1, 2000, up to September 20, 2020, were identified by searching through various electronic databases. The two researchers independently extracted the information. The data were analyzed by using the MetaGenyo program. The pooled odds ratio was used to find the associations between CAD and PON1 polymorphisms. In the final analysis, we include 10 studies regarding the association of PON1 polymorphisms (rs662 and rs854560) with CAD. Overall, the Q192R polymorphism increased the risk of CAD in the tested genetic models including the homozygote model: OR 1.35, CI 1.02–1.79; allelic model: OR 1.16, CI 1.00–1.33; dominant model: OR 1.25, CI 1.03–1.52. The L55M polymorphism does not significantly associated with CAD in all the tested genetic models including the homozygote model: OR 1.00 CI, 0.64–1.56; allelic model: OR 1.02, 95% CI 0.84–1.23; dominant model: OR 1.08, CI 0.89–1.31. Further analysis showed no publication bias exists in meta-analysis. Our findings suggested that rs662 in the coding region was significantly associated with the CAD however, rs854560 has no significant association with the disease. Nevertheless, in future, there is a need for more studies with a larger sample size which may provide a more definite conclusion.

Study Registration: PROSPERO registration number CRD42020202278