目的 明确亚甲基四氢叶酸还原酶（MTHFR）C677T、A1298C基因多态性与成人患者使用大剂量甲氨蝶呤（MTX）治疗急性淋巴细胞白血病（ALL）毒性反应和24、48、72 h MTX血药浓度关系。方法 收集2014年6月—2020年6月就诊于新疆医科大学第一附属医院成人急性淋巴细胞白血病75例患者血样检测MTHFR C677T及A1298C基因多态性, 根据抗癌药物常见毒性反应分级标准对毒性反应进行分级,采用非条件Logistic回归分析MTHFR C677T、A1298C基因多态性与HD-MTX毒性反应及血药浓度的关系。结果 MTHFR 677TT型发生贫血风险显著高于CC型（P=0.027, OR=4.694, 95%CI：1.195~18.438）; 未发现MTHFR C677T与白细胞减少、血小板计数减少、中性粒细胞计数减少、淋巴粒细胞计数减少、骨髓抑制、谷丙转氨酶升高、谷草转氨酶升高、肝功能损伤、急性肾损伤及黏膜损伤、24 h、48 h及72 h MTX血药浓度有相关性（P>0.05）; 未发现MTHFR A1298C与HD-MTX毒性反应及血药浓度有相关性（P>0.05）。结论 MTHFR C677T基因多态性与成人急性淋巴细胞白血病患者大剂量MTX化学治疗后血液毒性存在相关性。

Objective To determine the relationship among C677T and A1298C gene polymorphisms of methyltetrahydrofolate reductase（MTHFR）and adult acute lymphocytic leukemia（ALL）, the relationship between the toxicity of high-dose methotrexate（HD-MTX）after chemotherapy and the MTX blood concentration of 24 h, 48 h and 72 h in patients with ALL．Methods Blood samples were collected from 75 adult patients with ALL who were treated at the First Affiliated Hospital of Xinjiang Medical University from June 2014 to June 2020．The samples were used to detect the genetic polymorphisms of MTHFR C677T and A1298C, and the toxic reactions were graded according to the common toxic reaction classification criteria of anti-cancer drugs．Unconditional Logistic regression was used to analyze the relationship between MTHFR C677T and A1298C gene polymorphisms and HD-MTX toxic reactions and blood drug concentration．Results The risk of anemia in MTHFR 677TT was significantly higher than that in CC type（P=0.027, OR=4.694, 95% CI：1.195-18.438）．No correlation was found between MTHFR C677T and leukopenia, thrombocytopenia, neutropenia, lymphogranulocytopenia, bone marrow suppression, elevated alanine aminotransferase, elevated aspartate aminotransferase, liver function injury, acute kidney injury and mucosal injury, 24 h, 48 h and 72 h MTX plasma concentrations（>0.05）．No correlation was found among MTHFR A1298C and HD-MTX toxicity and blood concentration（P>0.05）．Conclusions MTHFR C677T gene polymorphism is associated with hematotoxicity after HD-MTX chemotherapy in adult patients with ALL．

目的 探讨载脂蛋白E（ApoE）基因多态性与卒中后认知障碍的相关性,即大动脉粥样硬化型脑梗塞的严重程度。方法 采用病例——对照研究的方法,收集九江学院附属医院神经内科的100例急性缺血性脑卒中且病因分型为大动脉粥样硬化型患者（脑梗死组）和50例性别、年龄匹配的非缺血性脑卒中患者（对照组）。检测患者的 ApoE 基因型、血脂、美国国立卫生院卒中量表（NIHSS）、卒中后6个月简易智力状态检查量表（MMSE）等,采用多因素方差分析等统计学方法分析他们之间的关联性。结果 ApoE 3/4基因型频率与Ɛ3、Ɛ4等位基因频率,在脑梗死组别中高于对照组（P<0.05）。同时,携带Ɛ3等位基因患者的低密度脂蛋白水平高于携带Ɛ2、Ɛ4等位基因的患者;进一步分析发现含Ɛ3等位基因的脑梗死患者NIHSS评分更高、卒中后认知障碍更严重（P<0.05）。结论 ApoE基因型为Ɛ3/4、等位基因Ɛ3、Ɛ4更易罹患大动脉粥样硬化型脑梗死,提示该基因型是脑梗死的易感基因,脑梗死后认知障碍患者Ɛ3等位基因的频率较高,可能是卒中后认知障碍的易感因素。

Objective To explore the relationship between ApoE gene polymorphisms and post-stroke cognitive impairment,the severity of large artery atherosclerotic cerebral infarction．Methods A case-control research study was conducted,gathering data from 100 individuals diagnosed with large artery atherosclerotic cerebral infarction according to the TOAST classification,who admitted to the Neurology Department of the Affiliated Hospital of Jiujiang University．Additionally,50 non-ischemic stroke patients,matched for gender and age,were included as the control group．The patients were assessed for ApoE genotype,blood lipid,NIHSS,and MMSE scale at 6 months post-stroke,and statistical methods were used to analyze their associations．Results Significant differences were observed in the ApoE 3/4 genotype frequency and Ɛ3、Ɛ4 allele frequency between patients with cerebral infarction and the control group,with a notably higher incidence of cerebral infarction in the former．Furthermore,patients carrying the Ɛ3 allele exhibited significantly higher LDL levels than those carrying Ɛ2 or Ɛ4．The analysis also revealed that patients with the Ɛ4 allele experienced higher NIHSS and severer post-stroke cognitive impairment．Conclusions The findings suggest that the ApoE genotype Ɛ3/4 and allele Ɛ3、Ɛ4 may predispose individuals to develop large atherosclerotic cerebral infarction,indicating a susceptibility gene for cerebral infarction．Additionally,the Ɛ3 allele was associated with a higher frequency of cognitive deficits after cerebral infarction,implying that it may be a predisposing factor for post-stroke cognitive impairment．

目的 探讨急性心肌梗死患者细胞色素P450酶基因(cytochrome P450,family 2,subfamily C,polypeptide 19,CYP2C19)多态性与高敏C-反应蛋白(hypersensitive C-reactive protein,hs-CRP)、白细胞介素-6(interleukin- 6,IL-6)及临床预后的相关性。方法 选取2019年5月—2020年5月入住我院心血管内科的急性心肌梗死患者182例作为研究对象,研究对象均接受经皮冠脉介入术,采取RT-PCR方法进行外周全血CYP2C19基因多态性的检测,并进行分组。口服阿司匹林300 mg和氯吡格雷300 mg后次日,测定血中hs-CRP和IL-6含量,治疗后12个月内,随访主要心血管不良事件。结果 182例急性心肌梗死患者中,快代谢组(CYP2C19*1/*1)患者最多,为78例(42.8%);中等代谢组(CYP2C19*1/*2、CYP2C19*1/*3),为65例(35.7%);慢代谢型组(CYP2C19*2/*2、CYP2C19*2/*3、CYP2C19*3/*3)最少,为39例(21.5%)。与快代谢组比较,中代谢组及慢代谢组hs-CRP、IL-6水平均升高,差异有统计学意义(P<0.05);与中代谢组比较,慢代谢组患者hs-CRP、IL-6水平均升高,差异有统计学意义(P<0.05)。CYP2C19基因型与hs-CRP及IL-6呈正相关(r=0.163、0.175,P<0.05)。中代谢组、慢代谢组患者1年内主要心血管不良事件发生率高于快代谢组患者(P<0.05)。结论 CYP2C19基因型与hs-CRP及IL-6具有相关性,CYP2C19基因型为中代谢型和慢代谢型能够激活机体炎症反应,影响急性心肌梗死患者的临床预后。

Objective To explore the correlation of cytochrome P450 gene (CYP2C19) polymorphism with hypersensitive C-reaction protein (hs-CRP), interleukin-6 (IL-6) and prognosis in patients with acute myocardial infarction (AMI). Methods A total of 182 patients with AMI admitted to cardiology department from May 2019 to May 2020 were selected as the research objects, all subjects underwent percutaneous coronary intervention (PCI), and CYP2C19 gene polymorphism in peripheral blood was detected by RT-PCR, which was grouping basis. One day after taking aspirin 300 mg and clopidogrel 300 mg orally, the levels of hs-CRP and IL-6 in patients' plasma were measured. The major adverse cardiovascular events (MACE) were followed up for 12 months after treatment. Results Among 182 patients with AMI, 78 patients (42.8%) were in the fast metabolism group (CYP2C19*1/*1), 65 patients (35.7%) in medium metabolism group (CYP2C19*1/*2, CYP2C19*1/*3), 39 patients (21.5%) in the slow metabolism group (CYP2C19*2/*2, CYP2C19*2/*3, CYP2C19*3/*3).Compared with the fast metabolism group, hs-CRP and IL-6 levels in the medium and slow metabolism group were significantly higher (P<0.05); compared with the medium metabolism group, hs-CRP and IL-6 levels in the slow metabolism group were significantly increased (P<0.05). CYP2C19 genotype was positively correlated with hs-CRP and IL-6 levels (r=0.163, 0.175,P<0.05). The incidences of MACE in the medium and slow metabolism groups were higher than that in the fast metabolism group (P<0.05). Conclusion CYP2C19 genotypes were associated with hs-CRP and IL-6 levels. Medium and slow metabolism types of CYP2C19 gene can activate the inflammatory response and affect the clinical prognosis of patients with AMI.

目的 观察新疆石河子地区绝经后女性2型糖尿病(T2DM)患者糖、脂、骨代谢特征及骨密度(BMD)情况,探讨该人群中低密度脂蛋白受体相关蛋白5(LRP5)基因rs3736228、rs3781586位点的基因多态性及突变与糖、脂、骨代谢指标的关系。方法 将新疆石河子地区2016年10月—2017年10月社区、医院门诊及住院绝经后女性按照纳入标准和排除标准选取136例为研究对象,根据患者病史、糖耐量实验及骨密度仪测定骨密度分4组,糖耐量正常与骨量正常组(A组),糖耐量正常与骨量异常组(B组),T2DM与骨量正常组(C组),T2DM与骨量异常组(D组)。测定并记录患者年龄、绝经年限等基线资料,计算体质指数(BMI)等,并检测糖代谢指标(空腹血糖等)、骨代谢指标(血Ca等)、脂代谢指标(甘油三酯等)。采用MALDI-TOF-MS法测定LRP5基因该两个位点基因多态性并进行统计分析。结果 ①糖代谢指标:与A组比较,C组、D组FPG、HbA1c均高于A组(P<0.01)。脂代谢指标:与A组比较,B组、D组TG低于A组(P<0.05)。骨代谢指标:与A组比较,B组、D组BMD(L1-4)、BMD(股骨颈)低于A组(P<0.01)。②LRP5基因该两个位点SNP基因分型分布符合Hardy-Weinberg遗传平衡定律(P>0.05);同时,该两个位点不同基因型的分布频率和等位基因频率在组间的比较经Pearson Chi-Square检验后发现暂无显著差异(P>0.05)。③LRP5基因rs3736228位点:A组,与CC型(野生型)相比,CT/TT型(突变型)甘油三酯(TG)降低(P<0.05),BMD(L1-4)降低(P<0.05);C组,与CC型(野生型)相比,CT/TT型(突变型)高密度脂蛋白(HDL-C)升高(P<0.01),磷(P)升高(P<0.05);LRP5基因rs3781586位点:B组,与GG型(野生型)相比,GT/TT(突变型)高密度脂蛋白(HDL-C)升高(P<0.05)。结论 在新疆石河子地区绝经后女性2型糖尿病人群中,LRP5基因rs3736228、rs3781586位点的基因多态性可能与糖代谢无关,但LRP5基因rs3736228位点的突变可能与脂代谢(TG、HDL-C)、骨代谢(P、BMD)有关,rs3781586位点的突变可能与脂代谢(HDL)有关。

Objective To observe the characteristics of glucose, lipid and bone metabolism and bone mineral density (BMD)in postmenopausal women with type 2 diabetes mellitus (T2DM)in Shihezi district of Xinjiang province, and to investigate the relationship in the polymorphism and mutation of rs3736228 and rs3781586 of LRP5 gene and glucose,lipid and bone metabolism indexes in this population. Method A total of 136 postmenopausal Han women, who were related in the outpatient department, community, and hospital after hospitalization in Shihezi district of Xinjiang province from October 2016 to October 2017, were selected as the study subjects by the inclusion criteria and exclusion criteria.According to the patient's medicalhistory, glucosetolerance test results and bone mineral density (BMD), they were divided into 4 groups: normal glucose tolerance and normal bone mass (group A), normal glucose tolerance and abnormal bone mass (group B), type 2 diabetes and normal bone mass (group C), and type 2 diabetes mellitus and abnormal bone mass (group D). Baseline data such as patient's age, menopause years were measured and recorded, and body mass index (BMI)was calculated. Simultaneously, glucose metabolism indicators including fasting blood glucose (FBG, etc), bone metabolism indicators (blood Ca, etc), lipid metabolism indicators(triglycerides, etc)were detected. The polymorphisms of rs3736228 and rs3781586 of LRP5 gene were determined by Maldi-Tof-Ms and those data were analyzed statistically. Results ①Glucose metabolism index: compared with group A: FPG and HbAlc in group C, group D were all higher than group A (P<0.01). Lipid metabolism index: compared with group A, TG in group B and group D was lower than that in group A (P<0.05). Bone metabolism index: compared with group A, BMD (L1- 4)and BMD (femoral neck)in group B and group D were lower than those in group A (P<0.01). ②The distribution of SNP genotypes at rs3736228, rs3781586 of LRP5 conformsed to the Hardy-Weinberg genetic equilibrium law (P>0.05). The distribution frequency and allele frequency of LRP5 genotypes rs3736228, rs3781586 were compared among the groups. Pearson chi-square test showed no significant difference (P>0.05). ③Rs 3736228 locus of LRP5 gene:in group A, compared with CC (wild type), CT/TT (mutated type)triglyceride (TG)decreased (P<0.05), BMD (L1- 4)decreased (P<0.05). In group C, compared with CC (wild type), CT/TT (mutated type)high-density lipoprotein (HDL-C)increased (P<0.05), phosphorus increased (P<0.05). Rs 3781586 locus of LRP5 gene: in group B, compared with GG (wild type), GT/TT (mutated type)high-density lipoprotein (HDL-C)increased (P<0.05).Conclusion In the Xinjiang Shihezi district among postmenopausal women with type 2 diabetes, rs3736228, rs3781586 loci of LRP5 gene polymorphism may be irrelevant to glucose metabolism, but the mutation of rs3736228 of LRP5 gene locus may be related to lipid metabolism and bone metabolism (TG, HDL-C, BMD, P), and the mutation of rs3781586 may be related to lipid metabolism (HDL-C).

目的 分析芳香化酶(CYP19)基因多态性与子宫内膜异位症(endometriosis,EMs)术后复发的关系。方法 回顾性分析2019年2月—2020年2月于我院接受手术的110例EMs患者临床资料,按照术后12个月是否复发分为未复发组(62例)、复发组(48例),通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术测定两组CYP19基因115T/C、240A/G、1531C/T位点的单核苷酸多态性(single nucletide polymorphism,SNP),并分析不同位点对应VAS评分、r-AFS评分的差异。结果 复发组CYP19基因115T/C、1531C/T位点不同基因型及等位基因频率与未复发组相比,差异均无统计学意义(P＞0.05);复发组CYP19基因240A/G位点AG基因型频率比未复发组高(P＜0.05),AA基因型频率比未复发组低(P＜0.05);两组240A/G位点等位基因频率相比,差异有统计学意义(P＜0.05);CYP19基因240A/G位点AG 型VAS评分、r-AFS评分＞GG型＞AA型,差异有统计学意义(P＜0.05);CYP19基因115T/C、1531C/T位点不同基因型的VAS评分、r-AFS评分相比,差异均无统计学意义(P＞0.05)。结论 CYP19基因240A/G位点多态性与EMs术后复发、疼痛程度及病情密切相关,且携带G等位基因的基因型(AG+GG)可能是术后复发的风险因素。

Objective To analyze the relationship between aromatase (CYP19) gene polymorphism and recurrence of endometriosis (EMs) after surgery. Methods The clinical data of 110 patients with EMs who underwent the operation in our hospital from February 2019 to February 2020 were analyzed retrospectively. The patients were divided into non-relapsing group (62 cases) and relapsing group (48 cases) by 12 months followed-up outcomes. The single nucleotide polymorphism (SNP) of 115T/C, 240A/G and 1531C/T sites of CYP19 gene were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and the differences of VAS and r-AFS scores between the two groups were analyzed. Results The genotypes and allele frequencies of 115T/C and 1531C/T of CYP19 gene in relapsing group were not significantly different from those in non-relapsing group (P>0.05). The AG genotype frequency of 240A/G site of CYP19 gene in relapsing group was higher than that in non-relapsing group (P<0.05), while the AA genotype frequency was significantly lower than that in non-relapsing group (P<0.05). There were significant differences in the allele frequencies of 240A/G site (P<0.05). The scores of VAS and r-AFS of AG＞GG＞AA, with significant differences (P<0.05). There were no significant differences in the VAS and r-AFS scores of CYP19 gene at 115T/C and 1531C/T site (P>0.05). Conclusion The 240A/G polymorphism of the CYP19 gene is closely related to postoperative recurrence, pain degree and condition of EMs, and the genotypes carrying the G allele (AG+GG) may be the risk factor of postoperative recurrence.

目的 探讨河源地区机采血小板固定献血者血小板抗原系统的基因多态性特征,为建立本地区机采血小板供血者库奠定基础。方法 采用PCR-SSP方法对100例机采血小板固定献血者进行血小板抗原HPA1～17系统基因分型。结果 HPA1～17基因中成多态性分布的等位基因是HPA2a、HPA3a、HPA5a、HPA15a,其频率分别为0.96、0.49、0.99、0.515。HPA-2、HPA-3、HPA-5、HPA-15系统存在aa、ab、bb 三种表型。HPA1a、HPA4a、HPA6a-14a、HPA16a-17a基因频率为1,呈单线性分布,未发现b基因。结论 河源地区血小板HPA-3系统不配合率最高(0.420),HPA-15系统次之。建立本地区机采血小板供血者库,为患者提供HPA相合的血小板,对减少临床血小板输注无效的发生具有重要意义。

Objective To study the polymorphism of human platelet antigens in fixed apheresis platelet donors in Heyuan area and to lay a foundation for the establishment of platelets donor bank. Methods PCR-SSP method was used to analyze HPA 1～17 genotype in 100 fixed platelet donors. Results The highest numbers of heterozygotes were HPA2a,HPA3a,HPA5a and HPA15a,with frequencies of 0.96,0.49,0.99 and 0.515,respectively. The frequencies of HPA1a,HPA4a,HPA6a-14a and HPA16a-17a genes were 1,which showed a single linear distribution. Conclusion HPA-3 system were the highest mismatch rate (0.420),followed by HPA-15 system. It is great significance to establish a local platelet donor bank and provide HPA compatible platelets for patients.

目的 探讨精神分裂症患者载脂蛋白E基因多态性与血清ApoE浓度、血脂、心血管疾病发生风险的相关性。方法 收集住院精神分裂症患者116例,记录一般资料和测定患者载脂蛋白E基因(APOE)、载脂蛋白E(ApoE)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)、心血管疾病发生风险评分(Framingham risk score,FRS)等指标。结果 ①APOEε2、ε3、ε4不同等位基因组精神分裂症患者TC、载脂蛋白E、FRS评分差异有统计学意义(P=0.01,P=0.005,P=0.012)。②载脂蛋白E与TC、FRS评分存在负相关关系(r_s=-0.48,P=0.02;r_s=-0.52,P=0.04),APOE ε4等位基因组载脂蛋白E与TC、FRS评分存在更高的相关关系(r_s=-0.55,P<0.001;r_s=-0.63,P=0.04)。结论 精神分裂症患者ApoE基因多态性与载脂蛋白E、胆固醇、FRS评分存在关联,ApoE基因-载脂蛋白E-胆固醇代谢通路可能是精神分裂症患者心血管疾病的致病机制之一。

目的 分析ABCB1基因G2677T、C3435T位点在我国汉族血脂异常人群的分布特征;探讨ABCB1基因G2677T和C3435T多态性与阿托伐他汀降脂疗效之间的关系。方法 依据中国成人血脂异常防治指南判断标准,在中国汉族人群中收集205例受试者,抽取其外周血液样本,利用聚合酶链式反应-限制性片段长度多态分析(PCR-RFLP)技术对受试者ABCB1进行基因分型,同时在阿托伐他汀治疗3个月前后检测总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL-C)、高密度脂蛋白胆固醇(HDL-C)血脂水平,将205例患者治疗后4项指标恢复正常分为A组,治疗后4项指标仍有一项及一项以上异常分为B组,来分析G2677T和C3435T基因多态性与阿托伐他汀降脂疗效的关系,以及G2677T和C3435T等位基因的分布特征。结果 205例患者中G2677T位点GG型、GT型、TT型基因频率分别为19.51%、42.44%、38.05%;C3435T位点CC型、CT型、TT型基因频率分别为34.63%、49.76%、15.61%。G2677T位点A组与B组等位基因突变率为58.46%与60.67%,A组GG型、GT型、TT型基因频率分别为23.08%、36.92%、40.00%,B组GG型、GT型、TT型基因频率分别为13.33%、52.00%、34.67%;C3435T位点A组与B组等位基因突变率为40.77%和40.00%,A组CC型、CT型、TT型基因频率分别为34.62%、 49.23%、16.15%,B组CC型、CT型、TT型基因频率分别为34.67%、50.67%、14.66%;ABCB1 基因G2677T、C3435T位点基因型在A组和B组中分布相同,无差异(P＞0.05)。205例患者中,用药前ABCB1基因G2677T位点TT型血浆TC、LDL-C水平高于GT型(P＜0.05)。用药后ABCB1基因G2677T位点GT型血浆TC、HDL-C、LDL-C水平低于GG型与TT型(P＜0.05);用药后ABCB1基因C3435T位点TT型血浆TC水平低于CC与CT型(P＜0.05),而CC型血浆LDL-C水平高于TT型(P＜0.05)。结论 ABCB1基因G2677T、C3435T位点多态性与血浆血脂水平有关,但ABCB1基因G2677T、C3435T位点多态性可能与阿托伐他汀3个月降脂疗效无关。

目的 探讨载脂蛋白E基因多态性在COPD患者合并AD中的意义。方法 通过病例资料进行回顾性研究,收集慢性阻塞性肺疾病70例,阿尔茨海默病81例,健康对照人群566例,进行统计分析。结果 “AD组”和“COPD合并AD组”的LDL水平高于“COPD未合并AD组”;“COPD组”的ApoE水平高于“AD组”,且在“COPD组”中,未合并AD者的ApoE水平明显高于合并AD者;“COPD组”的ε3/ε4基因型均少于“AD组”,且“COPD未合并AD组”的ε3/ε4基因型明显少于“COPD合并AD组”;“AD组”及“COPD合并AD组”的ε4等位基因频率多于“COPD组”及“COPD未合并AD组”;“COPD合并AD组”的ε3/ε3基因型少于“健康对照组”,而ε2/ε4基因型则多于“健康对照组”;“COPD组”的ε3/ε4基因型多于“健康体检组”;“COPD合并AD组”的ε3/ε4基因型多于“健康体检组”;“COPD合并AD组”的ε4等位基因频率高于“健康对照组”。结论 ApoE基因多态性不但参与COPD患者认知功能受损甚至合并AD,而且可能通过影响脂质代谢,参与COPD的发生发展;ApoE的ε4等位基因可能是COPD和AD患病的共同危险因素。

目的 探讨广东汉族儿童ACE2基因A9570G多态性与儿童激素敏感型肾病综合征(SSNS)复发的关系。方法 选取广东汉族SSNS患儿92例,按发病后1年复发情况分为频复发组31例、非频复发组61例,健康体检者60例为对照组,采用聚合酶链反应-DNA直接测序技术观察患儿与对照组ACE2基因A9570G基因型分布和等位基因频率。结果 在女性,SSNS组G等位基因频率及GG基因型分布均低于对照组(39％ vs 65％,P<0.05;27％ vs 50％,P<0.05);在男性,SSNS组G等位基因/GG基因型分布亦低于对照组(35％ vs 60％,P<0.05 )。亚组分析发现,在女性,频复发组G 等位基因频率及GG 基因型分布均高于非频复发组(58％ vs 29％,P<0.05;42％ vs 19％,P<0.05);在男性,频复发G基因型/G等位基因频率高于非频复发(58％ vs 24％,P<0.05)。结论 ACE2基因A9570G多态性与儿童SSNS复发相关,携带G等位基因的患儿容易表现为频复发。

Objective To investigate the association between the A9570G polymorphism of ACE2 gene and the relapse of steroid-sensitive nephrotic syndrome (SSNS) in Han childhood of Guangdong.Methods Ninety-two children with SSNS were selected from Guangdong Han nationality. According to the relapse frequency during the first year of the disease, 31 cases with more than 3 relapses were as frequency relapse group, 61 cases with less than 3 relapses were as non-frequent relapse group, and 60 healthy children were as control group. The gene distribution and allele frequency of ACE2 gene A9570G were observed by polymerase chain reaction-DNA direct sequencing technology.Results In female,the distribution of G allele frequency and GG genotype in SSNS group were significantly lower than that in the control group(39％ vs 65％, P<0.05; 27％ vs 50％, P<0.05). In male, the distribution of G allele/GG genotype in SSNS group was also significantly lower than that in the control group(35% vs 60%, P<0.05). Subgroup analysis found that the distribution of G allele frequency and GG genotype in female of the frequency relapse group were significantly higher than that of the non-frequency relapse group(58% vs 29%, P<0.05; 42% vs 19%, P<0.05), and the distribution of G allele/GG genotype in male of the frequency relapse group was significantly higher than that of the non-frequency relapse group (58% vs 24%, P<0.05).Conclusion The A9570G polymorphism of ACE2 gene was associated with the recurrence of children's SSNS, and the children with G allele were susceptible to recurrence.