多药耐药基因1C3435T多态性与癫痫耐药的关联性研究

目的：探讨我国癫痫患者P-糖蛋白基因多态性（C3435T）与抗癫痫药物反应性的关联性。方法：采用PCR--RFLP（聚合酶链反应--限制性片段长度多态性分析）的方法对156例癫痫患者外周血进行分型。其中,耐药组癫痫患者85例,有效组癫痫患者71例。结果：耐药组癫痫患者CC基因型21例,占24.70%;有效组癫痫患者CC基因型19例,占26.76%。两组比较无显著差异性。结论：本研究未发现P-gp C3435T基因型与癫痫耐药的关联性。     

ABCB1基因C3435T多态性与耐药性癫痫的关系

目的:探讨中国粤西地区汉族人群ABCB1基因C3435T (rs1045642)的单核苷酸多态性与耐药性癫痫的关系.方法:研究对象128例,包括正常对照组60例和癫痫组68例.根据患者对抗癫痫药物的反应性将癫痫组分为耐药组(30例)和药物敏感组(38例).提取所有研究对象外周血基因组DNA,采用PCR扩增后基因测序鉴定ABCB1基因C3435T多态性.测定该位点基因型频率和等位基因频率,并进行统计学分析.结果:各组ABCB1基因C3435T基因型频率的分布符合Hardy-Weinburg平衡,提示其来自同一孟德尔群体.正常对照组与药物敏感组及耐药组,药物敏感组与耐药组间基因型频率比较,差异均无统计学意义(P＞0.05).正常对照组与药物敏感组及耐药组,药物敏感组与耐药组间等位基因型频率比较,差异亦无统计学意义(P＞0.05).结论:本研究结果初步证实ABCB1基因C3435T位点多态性分布与耐药性癫痫之间无相关性.     

ABCB_1基因C3435T多态性与耐药性癫痫的关系

目的：探讨中国粤西地区汉族人群ABCB1基因C3435T（rs1045642）的单核苷酸多态性与耐药性癫痫的关系。方法：研究对象128例,包括正常对照组60例和癫痫组68例。根据患者对抗癫痫药物的反应性将癫痫组分为耐药组（30例）和药物敏感组（38例）。提取所有研究对象外周血基因组DNA,采用PCR扩增后基因测序鉴定ABCB1基因C3435T多态性。测定该位点基因型频率和等位基因频率,并进行统计学分析。结果：各组ABCB1基因C3435T基因型频率的分布符合Hardy-Weinburg平衡,提示其来自同一孟德尔群体。正常对照组与药物敏感组及耐药组,药物敏感组与耐药组间基因型频率比较,差异均无统计学意义（P〉0.05）。正常对照组与药物敏感组及耐药组,药物敏感组与耐药组间等位基因型频率比较,差异亦无统计学意义（P〉0.05）。结论：本研究结果初步证实ABCB1基因C3435T位点多态性分布与耐药性癫痫之间无相关性。     

KDR rs1870377基因与经皮冠状动脉介入治疗术后氯吡格雷耐药相关性分析

摘要 目的：探讨与分析KDR rs1870377基因与经皮冠状动脉介入治疗（percutaneous coronary intervention, PCI）术后氯吡格雷耐药相关性。方法：2018年5月到2021年2月选在航天中心医院（北京大学航天临床医学院）老年医学一科住院的冠心病患者97例作为研究对象,所有患者在PCI术后判定氯吡格雷耐药情况,检测KDR rs1870377基因多态性状况并进行相关性分析。结果：在97例患者中,PCI术后氯吡格雷耐药22例(耐药组),耐药率为22.7 %。耐药组的空腹血糖、总胆固醇、甘油三酯等与非耐药组对比差异无统计学意义（P>0.05）。KDR rs1870377基因主要包括AA、CC、CA三种基因型,两组都与Hardy-Weinberg平衡定律相符合,研究对象具有群体代表性。耐药组的KDR rs1870377基因CC基因型高于非耐药组（P<0.05）,耐药组的等位基因C频率高于非耐药组（P<0.05）。Spearsman分析显示KDR rs1870377基因CC基因型、等位基因C与氯吡格雷耐药存在相关性（P<0.05）。多元Logistic回归分析显示KDR rs1870377基因CC基因型、等位基因C为导致PCI术后氯吡格雷耐药的重要因素（P<0.05）。结论：冠心病患者PCI术后氯吡格雷比较常见,也伴随有KDR rs1870377基因多态性,KDR rs1870377基因CC基因型、等位基因C为导致PCI术后氯吡格雷耐药的重要因素。     

癫痫患儿SCN1A、MDR1 G2677TA、ABCB1 C3435T基因多态性与左乙拉西坦治疗效果的关系及疗效的影响因素分析

摘要 目的：探讨癫痫患儿SCN1A、MDR1 G2677TA、ABCB1 C3435T基因多态性与左乙拉西坦（LEV）治疗效果的关系及疗效的影响因素。方法：选择2019年6月至2021年7月在本院接受LEV治疗的癫痫患儿226例为研究对象,分析所有患儿基因型和等位基因分布情况;治疗3个月后根据治疗效果分为有效组和无效组,分析两组患儿SCN1A、MDR1 G2677TA、ABCB1 C3435T基因型及等位基因频率分布;采用单因素及多因素Logistic回归分析法分析影响临床疗效的因素。结果：癫痫患儿SCN1A rs4667869、SCN1A rs10497275、MDR1 G2677TA、ABCB1 C3435T基因型及等位基因分布频率有统计学差异（P＜0.05）。有效组SCN1A rs4667869的基因型GG、GC及等位基因G分布频率高于无效组（P＜0.05）,基因型CC及等位基因C分布频率低于无效组（P＜0.05）;有效组SCN1A rs10497275的基因型GA及等位基因G高于无效组（P＜0.05）,基因型AA及等位基因A分布频率低于无效组（P＜0.05）;有效组MDR1 G2677TA的基因型GT、TT及等位基因T高于无效组（P＜0.05）,基因型GG、AA及等位基因G分布频率低于无效组（P＜0.05）;有效组ABCB1 C3435T的基因型CC、CT及等位基因C分布频率高于无效组（P＜0.05）,基因型TT及等位基因T分布频率低于无效组（P＜0.05）。单因素分析显示,月发作频率和出生窒息史与LEV治疗癫痫患儿疗效有关。多因素Logistic回归分析显示,SCN1A rs4667869、SCN1A rs10497275、MDR1 G2677TA和ABCB1 C3435T基因型及等位基因、出生窒息史是LEV治疗癫痫患儿疗效的影响因素。结论：癫痫患儿SCN1A、MDR1 G2677TA和ABCB1 C3435T基因多态性与LEV治疗效果有关,其多种基因型是LEV治疗效果的影响因素。     

ERα-29 位基因多态性与HBV相关原发性肝癌易感性的关系分析

目的:探讨ERα-29位基因多态性与HBV相关原发性肝癌(PHC)易感性的关系。方法:通过聚合酶链反应-限制性片段长度多态性法检测我院100例HBV相关原发性肝癌患者(PHC组)与95例同期健康体检者(对照组)的ERα-29位基因多态性并对两组间各等位基因、基因型频率进行比较。结果:PHC组ERα-29位基因的TT、TC和CC基因型分别有31例(31.00%)、45例(45.00%)和24例(24.00%),T与C等位基因频率分别为53.50%和46.50%,对照组ERα-29位基因的TT、TC和CC型基因型分别有11例(11.58%)、39例(41.05%)和45例(47.37%),T与C等位基因频率分别为32.11%和67.89%,两组间基因型分布、等位基因频率差异均具有统计学意义(P0.05);T等位基因发生PHC的风险是C等位基因的2.43倍(OR=2.43,95%CI:1.37~4.32)。结论:ERα-29位基因与HBV相关原发性肝癌易感性有关,其中T等位基因可增加发生风险。     

ERCC1 多态性与肺癌铂类化疗耐药的关系研究

目的:研究DNA切除修复交叉互补基因1(excision repair cross-complementing gene1,ERCC1)单核苷酸多态性与非小细胞肺癌铂类药物化疗敏感性的关系。方法:应用基因测序方法检测89例以铂类药物为主要化疗方案的非小细胞肺癌患者的ERCC1 Asn118Asn基因型,,比较不同基因型与化疗疗效的关系。结果:89例患者化疗总有效率为29.2%。携带ERCC1 CC基因型、含至少一个变异基因型(TC和TT基因型)患者的有效率分别为38.5%和61.5%(X2=2.151,p=0.142),基因型在化疗有效组和无效组之间的分布无差异(p>0.05)。结论:ERCC1Asn118Asn单核苷酸多态性可能与非小细胞肺癌对铂类药物化疗的敏感性无关。     

耐药型癫痫患者T淋巴细胞亚群、细胞因子变化及其与认知功能、预后的关系研究

目的：探究耐药型癫痫患者外周血T淋巴细胞亚群和细胞因子的变化及与认知功能和预后的关系。方法：选择2022年4月至2023年5月本院收治的100例耐药型癫痫患者,根据药物敏感性分为耐药型癫痫组(45例)、药物敏感型癫痫组(55例),选择同期体检的50例健康者作为对照组。采用蒙特利尔认知功能评估量表(MoCA)、临床记忆量表(CMS)和数字符号转换测验评估患者整体智能、记忆功能和注意力,同时检测患者外周血T淋巴细胞亚群分布及白细胞介素-1β(IL-1β)、IL-6和肿瘤坏死因子α(TNF-α)等细胞因子水平。采用Spearman相关性分析对耐药型癫痫患者认知功能指标和T细胞亚群、细胞因子间的相关性进行分析。将耐药型癫痫患者分为预后不良组和预后良好组,比较两组患者外周血T淋巴细胞亚群分布以及IL-1β、IL-6和TNF-α水平。结果：(1)耐药型组和药物敏感型组MoCA评分、记忆商(MQ)和DST评分均显著低于对照组(P<0.05),耐药型组MoCA评分、MQ和DST评分均显著低于药物敏感型组(P<0.05);(2)耐药型组和药物敏感型组外周血CD4⁺和CD...     

MTHFR基因多态性与中国北方人群脑膜瘤发病的相关性分析

目的:探讨亚甲基四氢叶酸还原酶(MTHFR)基因多态性与中国北方人群脑膜瘤发病的相关性。方法:选择2012年1月-2013年12月在黑龙江省哈尔滨医科大学附属第二医院的第一、三病房接受手术治疗的脑膜瘤患者317例(实验组)及320例非脑膜瘤患者(对照组)为研究对象,利用聚合酶链反应限制性多态性片段长度(PCR-RFLP)检测和比较两组MTHFR两个单核苷酸多态性位点(C677T、A1298C)各种基因型(CC、CT、TT)的分布情况及等位基因的频率。结果:两组MTHFR的C677T中CC基因型的频率和TT基因型的频率比较有显著性差异(CC:OR=2.012,95%CI=1.460-2.772;TT:OR=0.399,95%CI=0.254-0.628,P0.05),实验组MTHFR的(0.450)C677T中的T等位基因频率明显高于对照组(0.320)(OR=0.529,95%CI=0.420-0.666,P0.05)。两组A1298C的等位基因分布比较没有统计学差别(P0.05)。结论:MTHFR基因的C677T中TT等位基因提示潜在的易患脑膜瘤的风险,而CC等位基因会降低中国北方人群患脑膜瘤的风险。     

黑龙江地区400例乙型肝炎病毒基因分型与耐药突变研究

目的:运用基因芯片技术分析黑龙江地区乙型肝炎病毒(HBV)基因型分布特征及基因耐药变异情况。方法:随机选择2012年11月至2015年11月本医院乙型肝炎患者血清样本400例,应用PCR-反向点杂交的基因芯片技术对样本血清中HBV基因型及常见4类抗病毒药物耐药相关的多个位点进行检测,并进行数据分析。结果:400例样本中基因型分布以C型为主占83.25%(333例),B型7.25%(29例)、D型0.25%(1例)及混合基因型2.75%(11例);耐药突变位点检出188例,总耐药率为45.19%,其中突变位点236T(4.61%)提示阿德福韦酯单项耐药,耐药率为5.82%(10例),与拉米夫定耐药相关的为126例,突变位点以rt204I和(rt180M+rt240V)为主,显著高于其他抗病毒类药物,耐药风险较高。结论:黑龙江地区乙型肝炎基因分型以C为主,B型和其它混合型较少,且更容易对拉米夫定产生耐药。     

Association of T3111C polymorphism in 3′-untranslated region of the <Emphasis Type="Italic">Clock</Emphasis> gene with the risk of essential arterial hypertension and coronary artery disease in the Russian population (Residents of Karelia)

Allele and genotype distributions of the T3111C polymorphism in 3′-untranslated region of the Clock gene were examined in the groups of Russian patients with essential arterial hypertension (EAH) and coronary artery disease (CAD), and in control group of Russia residents of the Republic of Karelia. The genotype frequency distributions of the polymorphism examined in the EAH and CAD patients were statistically significantly different from that in the individuals without clinical signs of these diseases. The CC genotype frequency in EAH and CAD males was higher, and in the corresponding females it was lower than in males and females from the control group. Male CC carriers were characterized by a possible increased risk of EAH: OR (95% CI) = 1.42 (0.56; 3.58). Moreover, the presence of the CC genotype in males could increase the risk of CAD: OR (95% CI) = 1.58 (0.63; 3.93).     

Association between -174 interleukin-6 gene polymorphism and biological response to rituximab in several systemic autoimmune diseases

Rituximab has become a pivotal treatment for systemic autoimmune diseases. The aim of this study was to determine whether the genetic variant -174 IL-6 contributes to differences in the response to rituximab in patients with systemic autoimmune diseases, including systemic lupus erythematosus (SLE), inflammatory myopathies, anti-neutrophil cytoplasmic antibody-mediated vasculitis, systemic sclerosis, Sj?egren's syndrome, rheumatoid arthritis, and autoimmune hemolytic anemia. DNA samples from 144 Spanish patients with different systemic autoimmune diseases receiving rituximab were genotyped for -174 IL-6 (rs1800795) gene polymorphism using the TaqMan(?) allelic discrimination technology. Six months after the first infusion with rituximab, we evaluated the response to the drug: 60.4% of the patients showed a complete response, partial 27.8%, and 11.8% did not respond to the treatment. The CC genotype frequency was significantly increased in nonresponders with respect to responders (23.5% vs. 7.1%, respectively; p=0.049; odds ratio (OR)=4.03, 95% confidence intervals (CI) 0.78-16.97). According to the genotype distribution, rituximab was effective in 69.2% of the CC carriers, 91.9% of the CG carriers, and 88.4% of the GG carriers. A similar trend was observed when SLE patients were analyzed separately (27.3% carried CC homozygosis in nonresponders and 6.9% in responders; p=0.066; OR=5.10, 95% CI 0.65-31.73). Rituximab was effective in 62.5% of the CC carriers, 88.9% of the GC carriers, and 90% of the GG carriers. These results suggest that -174 IL-6 (rs1800795) gene polymorphism plays a role in the response to rituximab in systemic autoimmune diseases. Validation of these findings in independent cohorts is warranted.     

Association of T3111C polymorphism in 3'-untranslated region of the CLOCK gene with the risk of essential arterial hypertension and coronary artery disease in the Russian population Karelia

Allele and genotype distributions of the T3111C polymorphism in 3'-untranslated region of the CLOCKgene were examined in the groups of Russian patients with essential arterial hypertension (EAH) and coronary artery disease (CAD), and in control group of Russia residents of the Republic of Karelia. The genotype frequency distributions of the polymorphism examined in the EAH and CAD patients were statistically significantly different from that in the individuals without clinical signs of these diseases. The CC genotype frequency in EAH and CAD males was higher, and in the corresponding females it was lower than in males and females from the control group. Male CC carriers were characterized by a possible increased risk of EAH: OR (95% CI) = 1.42 (0.56; 3.58). Moreover, the presence of the CC genotype in males could increase the risk of CAD: OR (95% CI) = 1.58 (0.63; 3.93).     

白血病融合基因EVI1的多态性与白血病发生风险的相关性

目的:探讨白血病融合基因亲嗜性病毒整合位点1(ecotropic viral integration site-1,EVI1)的多态性与白血病发生风险的相关性。方法:选取本院2017年2月～2019年2月收治的骨刺患儿90例作为研究组,同期选择健康人群83例作为对照组。清晨空腹抽取两组入选者的外周静脉血2 mL,采用PCR方法检测两组入选者EVI1的多态性情况,调查一般资料并进行相关性分析。结果:EVI1 rs17561基因共有CC、CA、AA三种基因型,两组入选者的EVI1 rs17561基因分布均符合Hardy-Weinberg平衡定律,研究对象具有群体代表性。两组入选者EVI1 rs17561基因型分布差异具有统计学意义(P0.05),研究组的EVI1 rs17561基因CC基因型显著高于对照组(90.0%vs. 75.9%, P0.05),研究组的等位基因C频率(显著高于对照组(96.7%vs. 80.7%, P0.05)。在90例骨刺患儿中,6例患儿确诊为白血病,检出率为6.7%,均为CC基因型。研究组患儿EVI1 rs17561基因的CC基因型与血小板计数、危险度分层、诊断分型显著相关(P0.05)。多元Logistic回归分析显示血小板计数、危险度分层、诊断分型为影响EVI1rs17561CC基因型的主要因素(P0.05)。结论:白血病患儿融合基因EVI1多态性比较常见,多表现为rs17561CC等位基因,此等位基因可能与白血病患者的血小板计数、危险度分层、诊断分型显著相关,其中血小板计数、危险度分层、诊断分型为影响EVI1rs17561CC基因型的主要因素。     

Modulation of adipocytokines response and weight loss secondary to a hypocaloric diet in obese patients by -55CT polymorphism of UCP3 gene.

Decreased expression or function of UCP3 (uncoupling protein 3) could reduce energy expenditure and increase the storage of energy as fat. Some studies have pointed to a role of UCP3 in the regulation of whole body energy homeostasis, diet induced obesity, and regulation of lipids as metabolic substrates. The C/C genotype of a polymorphism in the UCP3 promoter (-55C-->T) is associated with an increased expression of UCP3 mRNA in muscle. The aim of our study was to investigate the influence of -55CT polymorphism of UCP3 gene on adipocytokines response and weight loss secondary to a hypocaloric diet in obese patients. A population of 107 obese (body mass index >30) nondiabetic outpatients was analyzed in a prospective way. Before and after three months of a hypocaloric diet, an indirect calorimetry, tetrapolar electrical bioimpedance, blood pressure, a serial assessment of nutritional intake with 3-day written food records, and biochemical analysis were performed. The lifestyle modification program consisted of a hypocaloric diet (1520 kcal, 52% of carbohydrates, 25% of lipids and 23% of proteins). The exercise program consisted of aerobic exercise for at least 3 times per week (60 minutes each). The mean age was 49.5+/-34.5 years and the mean BMI 34.5+/-4.8, with 27 males (25.3%) and 80 females (74.7%). Ninety patients (25 males/65 females) (83.6%) had the genotype 55CC (wild group) and 17 patients (2 male/15 females) (16.4%) 55CT (mutant group). The percentage of responders (weight loss) was similar in both groups (wild group: 84.7% vs. mutant group: 81.8%). BMI, weight, fat mass, systolic blood pressure, LDL cholesterol, waist circumference, and waist-to-hip ratio decreased in the wild group and RMR and VO (2) were increased. In the mutant group, BMI and weight decreased. Leptin and IL-6 levels have a significant decrease in the wild group (9.6%: p<0.05) and (30.5%: p<0.05), respectively. Patients with -55CC genotype have a significant decrease in leptin, interleukin 6, BMI, weight, fat mass, systolic blood pressure, LDL cholesterol, waist circumference, waist-to-hip ratio weight, fat mass, and systolic blood pressure.     

Influence of functional genetic polymorphism (-590C/T) in non-small cell lung cancer (NSCLC) development: the paradoxal role of IL-4

Lung cancer is the leading cause of death by cancer in the world, originating about 17.5% of total deaths from cancer (1.18 million). Inflammation plays an important role in the pathogenesis of lung cancer. IL-4 is an anti-inflammatory cytokine, which reduces the production of proinflammatory cytokines by monocytes and with direct antiproliferative effects in some tumors. The polymorphism -590C/T SNP is a C to T transition in the -590 position of the promoter region of the IL-4 gene. The aim of this study was to evaluate the influence of this polymorphism in the susceptibility to NSCLC. DNA was extracted from peripheral blood of 1060 individuals (391 patients diagnosed with NSCLC and a control group of 669 individuals without cancer). The characterization of IL-4 -590C/T genotypes was performed by PCR-RFLP (BsmFI). The -590C/T polymorphism genotypes were classified as low (CC) and high expression (TT). The frequencies obtained for the CC and TT genotypes were 90.1% and 9.9%, respectively, in the control group and 92.9% and 7.1%, respectively, in the case group. The analysis of the TT and CC genotype frequencies in the two groups showed a statistically significant difference in its distribution, indicating a protection of 80% for the development of NSCLC, type epidermoid in individuals with the TT genotype when compared with individuals with CC genotype (P=0.024, OR=0.221: 95% CI=0.053-0.928). We present for the first time that increased expression of IL-4 associated with the TT genotype may contribute to immune surveillance during NSCLC development.     

SLC2A9rs1014290位点基因多态性与北方汉族地区男性痛风发病的相关性研究

目的:探讨可溶性载体2家族成员9基因(SLC2A9)rs1014290位点的单核苷酸多态性与北方汉族地区男性原发性痛风的发病的相关性。方法:选取404例原发性痛风男性患者和412名健康体检者,分别检测其血清尿酸、血脂、肾功等生化指标,同时提取外周血DNA,应用连接酶检测反应(LDR)法分析其SLC2A9基因rs1014290位点基因型和等位基因频率。结果:痛风组空腹血糖、尿酸(UA)、甘油三酯(TG)、胆固醇(TC)、收缩压、BMI、肌酐(Cr)水平均显著高于对照组,差异有统计学意义(P0.05)。痛风组SLC2A9基因rs1014290位点各基因型频率(CC:12.8%;CT:53.5%;TT:38.7%)与对照组(CC:16.2%;CT:50.9%;TT:32.9%)相比差异有统计学意义(X2=3.978,P=0.041);两组的等位基因频率相比差异无统计学意义(X2=0.314,P=0.496)。结论:SLC2A9基因rs1014290位点多态性可能与我国北方汉族男性原发性痛风的易感性相关,携带TT基因型的个体更易患痛风。     

Ⅱ型糖尿病患者APOA5-1131T/C基因多态性与血脂代谢和胰岛素抵抗的关系研究

为了探讨载脂蛋白A5基因(APOA5)-1131T/C多态性在中国镇江地区的频率分布及其与血浆脂质代谢和Ⅱ型糖尿病患者胰岛素抵抗的关系, 采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)结合琼脂糖凝胶电泳技术检测152例健康人及71例Ⅱ型糖尿病患者APOA5 -1131T/C基因型及等位基因频率分布, 同时采用生化方法测定所有研究对象的血脂、血糖和胰岛素水平。结果显示: 糖尿病组APOA5 -1131C等位基因频率显著高于对照组(0.430 vs 0.296, P = 0.006)。CC纯合子患糖尿病的风险是TT纯合子的3.75倍(OR = 3.75, 95% CI: 1.57~8.92), 且经Logistic回归分析, 校正年龄、BMI和血浆HDL-c、LDL-c及ApoB水平等其他混杂因素影响后, 这种差异仍具有显著性意义(OR = 2.70, 95%CI: 1.24 ~ 5.86)。糖尿病组C等位基因携带者TG水平显著高于非C等位基因携带者(P < 0.01), TC水平和LDL-c水平亦明显升高(P < 0.05)。但是在两组中, 不同基因型患者 胰岛素抵抗相关指标均无显示差异。提示APOA5-1131T/C单核苷酸多态性对人群血浆TG水平有影响, -1131C等位基因与血浆TG、TC和LDL-c水平增高有关, 但是与糖尿病患者胰岛素相关指标无关; APOA5 -1131C等位基因可能与人群糖尿病的发生相关联。     

apelin基因rs2235306位点多态性与哮喘的相关性研究

目的:探讨apelin基因rs2235306位点多态性与哮喘的相关性。方法:以外周血全血DNA为模板,应用四引物扩增受阻突变体系PCR(Tetra-primer ARMS PCR,T-ARMS-PCR)方法对158例哮喘患者(AS)和79例健康个体(NC)apelin基因rs2235306位点基因型进行分析,同时进行肺功能检查(FEV1、FVC、FEV1/FVC)。结果:AS组和NC组apelin基因rs2235306位点等位基因T和C频率分布具有统计学意义(X2=6.906,P=0.009,OR=1.688,95%CI=1.140-2.497),AS组C等位基因频率显著高于健康对照组;AS组和NC组基因型分布具有统计学意义(X2=14.243,P=0.000,OR=3.894,95%CI=1.861-8.149),其中CC基因型患哮喘的风险较高,为TT+TC基因型的3.894倍。AS轻度组和AS中重度组基因型CC和TT+TC频率及等位基因T和C频率比较均无统计学意义。结论:apelin基因rs2235306位点多态性和哮喘的发病具有一定的相关性,C等位基因可能是哮喘的遗传易感基因,CC基因型携带者哮喘的患病风险可能增加,但与哮喘的严重程度无明显相关性。