gene polymorphism

基因多态性
  • 文章类型: Journal Article
    Neonatal sepsis is a common and severe infectious disease with a high mortality rate. Its pathogenesis is complex, lacks specific manifestations, and has a low positive culture rate, making early diagnosis and personalized treatment still a challenge for clinicians. Epidemiological studies on twins have shown that genetic factors are associated with neonatal sepsis. Gene polymorphisms are closely related to susceptibility, disease development, and prognosis. This article provides a review of gene polymorphisms related to neonatal sepsis, including interleukins, tumor necrosis factor, Toll-like receptors, NOD-like receptors, CD14, triggering receptor expressed on myeloid cells-1, mannose-binding lectin, and other immune proteins, aiming to promote precision medicine for this disease.
    新生儿败血症是常见的感染性疾病,病情严重,病死率高。其发病机制复杂,缺乏特异性表现,培养阳性率低,早期诊断和个体化治疗仍然是临床医生面临的挑战。对双胞胎的流行病学研究表明,遗传因素与新生儿败血症存在关联。基因多态性与其易感性、病情发展和预后密切相关。该文就新生儿败血症相关的白细胞介素、肿瘤坏死因子、Toll样受体、NOD样受体、CD14、髓系细胞触发受体1、甘露糖结合凝集素和其他免疫蛋白基因多态性进行综述,以期促进该疾病的精准医疗。.
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  • 文章类型: Journal Article
    急性淋巴细胞白血病(ALL),儿童癌症的主要原因,靶向免疫系统B和T细胞。虽然了解其原因至关重要,预测易感性对早期诊断和干预具有巨大的作用。本研究探索了白细胞介素10(IL-10)的潜力,一个关键的免疫调节剂,作为埃及儿童的预测工具。调查了100名ALL患者和100名健康对照,我们分析了IL10基因多态性(-1082A/G)和血清水平。引人注目的是,G等位基因和较高的血清IL-10水平均与ALL风险增加显著相关(p<0.05,OR>1).此外,IL-10作为一个非常准确的预测因子出现,AUC为0.995,灵敏度为97%,特异性为96%。这些发现揭示了IL-10作为研究的埃及人群中小儿ALL的强大预测工具的潜力。识别具有GG/AG单倍型和升高的IL-10水平的个体可以实现早期干预并潜在地改善结果。虽然需要在更大和更多样化的人群中进一步验证,这项研究为个性化风险评估铺平了道路,并可能彻底改变我们如何打击这种童年杀手。
    Acute lymphoblastic leukemia (ALL), a leading cause of childhood cancer, targets immune system B and T cells. While understanding its causes is crucial, predicting susceptibility holds immense power for early diagnosis and intervention. This study explored the potential of interleukin 10 (IL-10), a key immune regulator, as a predictive tool in Egyptian children. Investigating 100 ALL patients and 100 healthy controls, we analyzed the IL10 gene polymorphism (-1082 A/G) and serum levels. Strikingly, both the G allele and higher serum IL-10 levels were significantly associated with increased ALL risk (p < 0.05, OR > 1). Moreover, IL-10 emerged as a remarkably accurate predictor, boasting an AUC of 0.995, with a sensitivity of 97% and specificity of 96%. These findings unveil the potential of IL-10 as a powerful predictive tool for pediatric ALL in the studied Egyptian population. Identifying individuals with the GG/AG haplotype and elevated IL-10 levels could enable early intervention and potentially improve outcomes. While further validation in larger and more diverse populations is needed, this study paves the way for personalized risk assessment and potentially revolutionizes how we combat this childhood killer.
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  • 文章类型: Journal Article
    昼夜节律影响代谢和药物的治疗效果。这项研究的目的是确定PER和CRY多态性与早产儿呼吸暂停婴儿柠檬酸咖啡因治疗反应之间的关系。
    本研究共纳入221名胎龄<34周的早产儿(应答组160名,非应答组61名)。使用倾向评分匹配方法对所有早产儿进行1:1匹配,比较两组患者的一般特征和临床结局。昼夜节律转录抑制因子PER和CRY的多态性与早产儿呼吸暂停婴儿枸橼酸咖啡因治疗反应之间的关联进行了分析,支配,隐性,和过度主导的模型,以及等位基因分析。使用广义多因素降维(GMDR)分析来分析PER和CRY基因之间的相互作用。
    倾向得分匹配后,45名早产儿被纳入每个响应和无响应组,两组一般特征比较差异无统计学意义(P>0.05)。无反应组的婴儿中重度支气管肺发育不良(BPD)的发生率较高(P=0.043)。早产儿视网膜病变(ROP)(P=0.035),有创通气(P=0.027),并且他们的氧气使用时间更长(P=0.041)。当纠正错误发现率时,PER3rs228669隐性模型(PFDR=0.045)和过显性模型(PFDR=0.045)均与枸橼酸咖啡因治疗反应相关.rs228669CC基因型的早产儿在隐性模型中枸橼酸咖啡因无反应率显著降低(OR=0.28,95%CI=0.12-0.66),在过显性模型中,具有CT基因型的早产儿明显更高(OR=4.18,95%CI=1.64-10.66)。GMDR分析显示PER和CRY基因之间存在相互作用(P<0.05)。
    昼夜节律可能在早产儿对柠檬酸咖啡因的反应中起作用,PER和CRY基因的多态性可能影响枸橼酸咖啡因治疗早产儿呼吸暂停的有效性。
    UNASSIGNED: Circadian rhythms impact metabolism and the therapeutic effects of drugs. The purpose of this study was to determine the association between PER and CRY polymorphisms and caffeine citrate treatment response in infants with apnea of prematurity.
    UNASSIGNED: A total of 221 preterm infants of gestational age <34 weeks were included in this study (160 in the response group and 61 in the non-response group). The propensity score matching method was used to perform a 1:1 matching for all premature infants, and the general characteristics and clinical outcomes of the two groups were compared. The association between polymorphisms of the circadian transcription repressors PER and CRY and caffeine citrate treatment response in infants with apnea of prematurity was analyzed with co-dominant, dominant, recessive, and over-dominant models, as well as analysis of alleles. Generalized multifactor dimensionality reduction (GMDR) analysis was used to analyze the interaction between the PER and CRY genes.
    UNASSIGNED: After propensity score matching, 45 preterm infants were included in each of the response and non-response groups, and there were no statistically significant differences in general characteristics between the two groups (P > 0.05). Infants in the non-response groups had a higher incidence of moderate and severe bronchopulmonary dysplasia (BPD) (P = 0.043), retinopathy of prematurity (ROP) (P = 0.035), and invasive ventilation (P = 0.027), and their duration of oxygen use (P = 0.041) was longer. When corrected for false discovery rate, the PER3 rs228669 recessive model (P FDR   = 0.045) and the over-dominant model (P FDR = 0.045) were both associated with caffeine citrate treatment response. Preterm infants with the rs228669 CC genotype had a significantly lower rate of caffeine citrate non-response in the recessive model (OR = 0.28, 95% CI = 0.12-0.66), which was significantly higher in preterm infants with the CT genotype in the over-dominant model (OR = 4.18, 95% CI = 1.64-10.66). GMDR analysis revealed an interaction between the PER and CRY genes (P < 0.05).
    UNASSIGNED: Circadian rhythms may play a role in the response of premature infants to caffeine citrate, and polymorphisms of the PER and CRY genes may influence the effectiveness of caffeine citrate treatment for apnea of prematurity.
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  • 文章类型: Journal Article
    目的:探讨云南汉族人群CFH基因rs1410996多态性与原发性高血压的关系。
    方法:根据收集的EH患者(n=520)和健康人(n=494)的临床表型,对CFH基因的rs1410996进行基因分型。
    结果:在基因型模型和优势模型上,调整后CFH基因rs1410996与EH无相关性(P>0.05)。关于男性EH患者的优势模型,调整后,CC基因型携带者的脉压(PP)水平高于(CTTT)基因型携带者(P<0.05)。
    结论:CFH基因rs1410996与云南汉族人群EH遗传易感性无相关性。但与男性患者的PP水平有关。
    OBJECTIVE: To explore the relationship between rs1410996 polymorphism of CFH gene and essential hypertension (EH) in the Yunnan Han population.
    METHODS: rs1410996 of CFH gene was genotyped based on the collected clinical phenotypes of the EH patients (n = 520) and healthy people (n = 494).
    RESULTS: On the genotype model and dominance model, there was no relationship between rs1410996 of CFH gene and EH after adjustment (P > 0.05). On the dominance model of male EH patients, the pulse pressure (PP) level of CC genotype carriers was higher than that of (CT + TT) genotype carriers after adjustment (P < 0.05).
    CONCLUSIONS: rs1410996 of CFH gene has no correlation with the genetic susceptibility to EH in the Yunnan Han population, but it is related to the PP level in male patients.
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  • 文章类型: Journal Article
    岩藻糖基转移酶2(FUT2)基因,它调节了组蛋白群抗原的形成,可以确定人类对诺如病毒的易感性。本研究旨在探讨中国汉族人群FUT2基因多态性与诺如病毒胃肠炎易感性的相关性。共纳入212例急性胃肠炎患儿。分别采集粪便和血清样本。我们使用qPCR方法从粪便样本中检测诺如病毒感染状况,我们使用血清样本检测FUT2多态性。采用Sanger测序法,对FUT2基因的3个常见SNPs多态性(rs281377、rs1047781和rs601338)进行病例对照研究。结果表明,rs1047781(A385T)的纯合基因型和突变等位基因会降低中国汉族人群诺如病毒胃肠炎的风险(AA与TT,优势比[OR]=0.098,95%置信区间[CI]=0.026-0.370,p=0.001;AA+ATvs.TT,OR=0.118。95%CI=0.033-0.424,p=0.001;A与T,OR=0.528,95%CI=0.351-0.974,p=0.002)。诺如病毒阳性组和阴性组rs281377(C357T)和rs601338(G428A)多态性差异无统计学意义(p>0.05)。与其他单倍型相比,单倍型T-T-G对诺如病毒感染的敏感性较低(OR=0.49,95%CI=0.31-0.79,p=0.0034)。我们的结果调查了FUT2基因多态性与中国汉族人群诺如病毒易感性之间的关系。首次发现FUT2rs1047781(A385T)纯合基因型和突变等位基因的儿童对诺如病毒胃肠炎的敏感性较低。
    Fucosyltransferase 2 (FUT2) gene, which regulates the formation of Histoblood group antigens, could determine the human susceptibility to norovirus. This study aimed to investigate the correlation between FUT2 gene polymorphism and susceptibility to norovirus gastroenteritis in Han Chinese population. A total of 212 children patients with acute gastroenteritis were enrolled. The stool and serum samples were collected respectively. We used the qPCR method to detect the norovirus infection status from the stool samples, and we used serum samples to detect the FUT2 polymorphism. A case-control study was conducted to investigate the three common SNPs polymorphisms (rs281377, rs1047781, and rs601338) of FUT2 gene with sanger sequencing method. The results indicated that the homozygous genotypes and mutant allele of rs1047781 (A385T) would downgrade the risk of norovirus gastroenteritis in Chinese Han population (AA vs. TT, odds ratio [OR] = 0.098, 95% confidence interval [CI] = 0.026-0.370, p = 0.001; AA + AT vs. TT, OR = 0.118. 95% CI = 0.033-0.424, p = 0.001; A vs. T, OR = 0.528, 95% CI = 0.351-0.974, p = 0.002). There were no significant difference of rs281377 (C357T) and rs601338 (G428A) polymorphisms between norovirus positive and norovirus negative groups (p > 0.05). The haplotype T-T-G was less susceptible (OR = 0.49, 95% CI = 0.31-0.79, p = 0.0034) to norovirus infection compared to other haplotypes. Our results investigated the relationship between the FUT2 gene polymorphisms and norovirus susceptibility in Han Chinese population, and firstly revealed that children with homozygous genotypes and mutant alleles of FUT2 rs1047781 (A385T) were less susceptible to norovirus gastroenteritis.
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  • 文章类型: Journal Article
    探讨色氨酸羟化酶2(TPH2)(rs11178997,rs11178998和rs120074175)的单核苷酸多态性(SNPs)与青少年抑郁症患者非自杀自我伤害(NSSI)的负性生活事件之间的关系。
    从197名患有抑郁症的青少年中提取基因组DNA(参与者组,包括NSSI组和非NSSI组),以及来自100个健康对照(对照组),在中国北方。利用PCR技术扩增DNA片段并检测两组的基因型。采用青少年生活事件量表(ASLEC)对参与者和对照组进行问卷调查。采用X^2检验分析两组间等位基因和基因型频率分布的差异,而广义多因子降维(GMDR)用于分析基因-环境相互作用。
    对照组与NSSI组和非NSSI组的ASLEC评分差异均有统计学意义(P<0.05)。此外,NSSI组和非NSSI组的人际关系因子和惩罚因子差异有统计学意义(P<0.05)。此外,抑郁症组(NSSI组+非NSSI组)与对照组rs11178997SNP基因型差异有统计学意义(P<0.05)。GMDR分析显示rs11178997、rs11178998和ASLEC之间存在相互作用。
    患有抑郁症的青少年,尤其是女性,当面临更大的家庭和人际关系挑战时,可能会倾向于采用NSSI作为情感应对机制。TPH2基因位点rs11178997的AT基因型在青少年抑郁症患者中更为普遍。此外,NSSI的发生可能与涉及多态位点rs11178997和rs11178998以及生活事件的相互作用有关.
    UNASSIGNED: To investigate the association between single nucleotide polymorphisms (SNPs) of tryptophan hydroxylase 2 (TPH2) (rs11178997, rs11178998, and rs120074175) and negative life events in adolescent depression with Non-suicidal self-injury (NSSI).
    UNASSIGNED: Genomic DNA was extracted from 197 adolescents with depression (participants group, including NSSI group and non-NSSI group), as well as from 100 healthy controls (control group), in northern China. PCR technology was utilized to amplify DNA fragments and detect genotypes in both groups. The Adolescent Life Event Scale (ASLEC) was employed to conduct a questionnaire survey among the participants and control groups. Differences in allele and genotype frequency distribution between the two groups were analyzed using the X^2 test, while generalized multifactor dimensionality reduction (GMDR) was used to analyze gene-environment interactions.
    UNASSIGNED: Significant differences were observed in ASLEC scores between the control group and both the NSSI group and non-NSSI group (P<0.05). Additionally, significant differences were found in the interpersonal relationship factor and punishment factor between the NSSI group and non-NSSI group (P < 0.05). Moreover, a significant difference was identified in SNP genotype of rs11178997 between the depression group (NSSI group + non-NSSI group) and control group (P<0.05). GMDR analysis revealed an interaction among rs11178997, rs11178998, and ASLEC.
    UNASSIGNED: Adolescents with depression, particularly females, may exhibit a tendency to employ NSSI as an emotional coping mechanism when confronted with greater family and interpersonal challenges. The AT genotype of TPH2 gene locus rs11178997 is more prevalent among adolescents with depression. Furthermore, the occurrence of NSSI may be associated with an interaction involving polymorphic sites rs11178997 and rs11178998 along with life events.
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  • 文章类型: Journal Article
    目的:本研究旨在探讨CYP3A5的潜在作用(c。6986A>G)基因多态性预测血清胱抑素C未升高的高血压患者的肾功能损害。
    方法:我们招募了一组胱抑素C未升高的高血压患者,并分析了CYP3A5(c。6986A>G)基因多态性。采用卡方检验比较两组的临床特征和基因型分布。Logistic回归分析CYP3A5(c.6986A>G)基因多态性与高血压患者胱抑素未升高的肾功能损害的相关性。
    结果:在参与研究的高血压患者中,CYP3A5(c.6986A>G)基因多态性与肾功能损害(p<0.05)。CYP3A5患者(c。6986A>G)突变显示出更大的肾功能损害风险。
    结论:CYP3A5(c。6986A>G)AA纯合子基因多态性显著增加胱抑素C正常的高血压患者肾功能损害的风险,然而,需要进一步的研究来验证这种关联并进一步了解CYP3A5的机制(c.6986A>G)基因多态性与高血压患者肾功能损害的关系。
    OBJECTIVE: This study aimed to explore the potential role of CYP3A5 (c. 6986A>G) gene polymorphism in predicting kidney function impairment in patients with hypertension who did not have elevated serum cystatin C.
    METHODS: We recruited a group of patients with hypertension who did not have elevated cystatin C and analyzed the CYP3A5 (c. 6986A>G) gene polymorphism. Chi-square tests were used to compare the clinical characteristics and genotypic distribution between the two groups. Logistic regression analysis was used to explore the association between CYP3A5 (c.6986A>G) gene polymorphism and renal function impairment in hypertension with non-elevated cystatin.
    RESULTS: In patients with hypertension who participated in the study, there was a significant association between CYP3A5 (c. 6986A>G) gene polymorphism and kidney function impairment (p < 0.05). Patients with the CYP3A5 (c. 6986A>G) mutation display a greater risk of kidney function impairment.
    CONCLUSIONS: CYP3A5 (c. 6986A>G) gene AA homozygote polymorphism significantly increases risk of kidney function impairment in patients with hypertension with normal cystatin C. However, further studies are needed to validate this association and to further understand the mechanism of CYP3A5 (c. 6986A>G) gene polymorphism in kidney function impairment in patients with hypertension.
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  • 文章类型: Journal Article
    本研究旨在调查C3基因位点的9个标签单核苷酸多态性(SNPs)与中国人群冠心病(CAD)风险和血脂水平之间的关联。并进一步探讨SNP与可能与CAD风险相关的环境因素之间的相互作用。
    进行了一项病例对照研究,以调查医院环境中CAD和C3基因多态性之间的关联。该研究包括944名平均年龄为55.97±10.182岁的CAD患者和897名平均年龄为55.94±9.162岁的非CAD对照。CAD组有565名男性和288名女性,对照组有583名男性和314名女性。通过使用改进的多重连接检测反应(iMLDR)技术鉴定C3基因中的TagSNPs,多因素降维(MDR)分析用于研究C3基因-环境和基因-基因相互作用与CAD风险的关系。
    多态性研究结果表明,与对照组相比,CAD组rs7257062的CC基因型更频繁(10.9%vs7.7%),具有统计学上的显著差异(p=0.009)。此外,CAD亚组rs7257062的TT和CC+CT基因型组的血清甘油三酯水平存在显著差异(2.326±1.889vs2.059±1.447,p=0.019).总胆固醇(TC)分析,低密度脂蛋白胆固醇(LDL-C),高密度脂蛋白胆固醇(HDL-C),载脂蛋白A(ApoA),载脂蛋白B(ApoB)水平显示TT和CCCT基因型之间没有显着差异。此外,其他SNP基因型之间的血脂水平没有显着差异。多变量逻辑分析,控制性别,年龄,体重指数(BMI),甘油三酯(TG),TC,HDL-C,LDL-C,ApoA和ApoB,结果证明rs7257062仍是CAD的独立危险因素(OR=1.499,95%CI:1.036~2.168,p=0.032)。MDR分析表明,rs7257062与吸烟等环境因素有显著的相互作用,糖尿病,高血压,BMI,和TG(p<0.05)。
    C3基因的rs7257062变异可能与脂质平衡和CAD的风险有关。可以想象,C3多态性与环境因素之间的相互作用可以解释CAD的病因。
    UNASSIGNED: This study aims to investigate the association between nine tag single nucleotide polymorphisms (SNPs) in the C3 gene locus and the risk of coronary artery disease (CAD) as well as lipid levels in the Chinese population, and to further explore the interactions between SNPs and environmental factors that may be associated with CAD risk.
    UNASSIGNED: A case-control study was conducted to investigate the association between CAD and C3 gene polymorphisms in a hospital setting. The study consisted of 944 CAD patients with a mean age of 55.97 ± 10.182 years and 897 non-CAD controls with a mean age of 55.94 ± 9.162 years. There were 565 males and 288 females in the CAD group and 583 males and 314 females in the control group. TagSNPs in the C3 gene were identified by employing the improved multiplex ligation detection reaction (iMLDR) technique, and multifactor dimensionality reduction (MDR) analysis was utilized to investigate the C3 gene-environment and gene-gene interactions in relation to the risk of CAD.
    UNASSIGNED: Results of the polymorphism study indicated that the CC genotype of rs7257062 was more frequent in the CAD group compared to the control group (10.9% vs 7.7%), with a statistically significant difference (p = 0.009). Moreover, the TT and CC + CT genotype groups of rs7257062 in the CAD subgroup showed a significant difference in terms of serum triglyceride levels (2.326 ± 1.889 vs 2.059 ± 1.447, p = 0.019). Analysis of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), apolipoprotein A (ApoA), and apolipoprotein B (ApoB) levels revealed no significant differences between the TT and CC + CT genotypes. Furthermore, no significant differences in serum lipid levels were observed between genotypes of the other SNPs. Multivariable logistic analysis, controlling for gender, age, body mass index (BMI), triglycerides (TG), TC, HDL-C, LDL-C, ApoA and ApoB, demonstrated that rs7257062 was still an independent risk factor of CAD (OR = 1.499, 95% CI: 1.036-2.168, p = 0.032). MDR analysis revealed that the rs7257062 interacted significantly with environmental factors such as smoking, diabetes, hypertension, BMI, and TG (p < 0.05).
    UNASSIGNED: The rs7257062 variation of the C3 gene could be linked to both lipid balance and the risk of CAD. It is conceivable that the interplay between C3 polymorphisms and environmental elements could account for the etiology of CAD.
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  • 文章类型: Journal Article
    心房颤动(AF)是最常见的心律失常之一,但其发病机制仍知之甚少。导管消融术是房颤最有效的治疗方法之一,但消融后复发仍是一个挑战.关于房颤复发与几个因素的关系已有大量研究,包括遗传学。在过去的十年左右,在心房颤动的遗传结构方面取得了重大进展.全基因组关联研究(GWAS)已经确定了超过100个与心房颤动相关的遗传变异位点。然而,关于消融术后房颤复发相关基因的系统评估信息相对较少.在这篇评论文章中,我们强调了遗传多态性在导管消融术后房颤复发中的价值及其在复发过程中的潜在机制,以增强我们对房颤复发的认识,并有助于房颤患者的个体化治疗策略.
    Atrial fibrillation (AF) is one of the most common cardiac arrhythmias, but its pathogenesis is still poorly understood. Catheter ablation is one of the most effective treatments for AF, but recurrence after ablation remains a challenge. There has been much research into the association of AF recurrence with several factors, including genetics. Over the past decade or so, significant advances have been made in the genetic architecture of atrial fibrillation. Genome-wide association studies (GWAS) have identified over 100 loci for genetic variants associated with atrial fibrillation. However, there is relatively little information on the systematic assessment of the genes related to AF recurrence after ablation. In this review article, we highlight the value of genetic polymorphisms in atrial fibrillation recurrence after catheter ablation and their potential mechanisms in the recurrence process to enhance our understanding of atrial fibrillation recurrence and contribute to individualized treatment strategies for patients with AF.
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  • 文章类型: Journal Article
    引言FADS1(脂肪酸去饱和酶1)基因多态性导致对某些代谢性疾病和慢性炎性疾病如牙周炎的易感性更高。本研究旨在分析FADS1基因多态性与牙周炎各阶段的关系。材料和方法本研究纳入的100名受试者分为两组:A组(n=50)有健康的牙周组织,B组(n=50)患有≥II期牙周炎。根据探查袋深度(PPD)的临床参数对它们进行分级,临床依恋水平(CAL),探查出血(BOP)。收集5毫升静脉血,并进行了DNA分离。提取基因组DNA。然后在FADS1基因的ProvidenciastuartiiI(PstI)多态性位点侧翼的特异性引物的帮助下对DNA进行扩增。卡方检验旨在检查两组中的基因型和等位基因频率分布;p<0.05被认为是统计学上显著的。结果FADS1多态性基因型频率差异无统计学意义(p=0.91)。我们的研究显示没有显着差异(AA与AGGG)在牙周炎组和对照组之间的纯合和杂合变异基因型之间,p值为0.7764。AG的频率(28%与30%)和GG(62%vs.58%)基因型在牙周炎组和健康对照组之间没有显着差异。在G等位基因中没有发现显着差异(77%与73%)和A等位基因(23%vs.27%)在牙周炎组和对照组之间。结论在研究人群中,FADS1受体多态性与牙周炎无关。
    Introduction FADS1 (fatty acid desaturase 1) gene polymorphism results in more susceptibility to certain metabolic diseases and chronic inflammatory diseases like periodontitis. This study aims to analyze the association between FADS1 gene polymorphism and various stages of periodontitis. Materials and methods One hundred subjects included in the study were categorized into two groups: group A (n = 50) had healthy periodontium, and group B (n = 50) had ≥stage II periodontitis. They were graded based on the clinical parameters of probing pocket depth (PPD), clinical attachment level (CAL), and bleeding on probing (BOP). Five milliliters of venous blood were collected, and DNA isolation was done. Genomic DNA was extracted. The DNA was then subjected to amplification with the help of specific primers flanking the Providencia stuartii I (PstI) polymorphic site of the FADS1 gene. A chi-square test aimed to examine the genotype and allele frequency distributions in both groups; p < 0.05 was considered statistically significant. Results The difference in genotype frequency of FADS1 polymorphism was statistically insignificant (p = 0.91). Our study revealed no significant difference (AA vs. AG+GG) between the periodontitis and control groups between homozygous and heterozygous variant genotypes with a p-value of 0.7764. The frequency of AG (28% vs. 30%) and GG (62% vs. 58%) genotypes showed no significant difference between the periodontitis group and healthy control subjects. No significant difference was seen in the G allele (77% vs. 73%) and A allele (23% vs. 27%) between the periodontitis and control groups. Conclusion The study concluded that FADS1 receptor polymorphism is not associated with periodontitis in the study population.
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