结肠癌易感性与细胞毒性T淋巴细胞相关抗原4的关系

目的:探讨细胞毒性T淋巴细胞相关抗原4(CTLA-4)基因外显子49位点及启动子1661位点单核苷酸多态性(SNP)及临床病理参数与青岛地区人群结肠癌的发病的关系。方法:采用聚合酶链反应-限制性片段长度多态分析(PCR-RFLP)检测来自青岛地区人群结肠癌患者及对照组中位CT-LA-4+49A/G,-1661A/G基因多态性的分布,并研究多态性与结肠癌临床病理参数的关系。结果:1)CT-LA-4+49A/G:与AA基因型携带者相比,AG及GG基因型人群罹患结肠癌的风险都显著增加(P=0.00),携带GG基因型罹患结肠癌的风险明显增加5.12倍,且男性、吸烟结肠癌患者携带AG及GG基因型明显增加;2)CTLA-4-1661A/G:以AA基因型为对照,AG+GG基因型携带者的患病风险显著增高,为对照组的2.50倍(P=0.001),多态性与结肠癌患者的性别、年龄、肿瘤分化程度及TNM分期无相关性。结论:CTAL-4+49A/G及-1661A/G基因多态性与结肠癌的遗传易感性相关,性别、吸烟与否也是影响因素。     

胃癌易感性与细胞毒性T淋巴细胞相关抗原-4基因+49A/G多态性的关系

目的 探讨细胞毒性T淋巴细胞相关抗原-4(CTLA-4)基因外显子1区+49A/G位点多态性在中国人群中的分布及其与胃癌易感性的关系.方法 应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测205例胃癌患者和262例正常对照者CTLA-4基因+49A/G多态位点基因型频率,进行多态性与胃癌易感性的关系分析并进行分层分析.结果 CTLA-4基因外显子1区+49位点A/G、G/G基因型在胃癌组患者中的分布频率明显高于对照组(P＜0.01,OR=2.146;P＜0.01,OR=3.215);分层分析示:男性患者、年龄在40～55岁之间、不吸烟、不饮酒患者组等组别的胃痛患者携带G/G基因型的频率较正常对照组显著增加.结论 CTLA-4基因外显子1区+49A/G多态性与胃癌易感性有明显相关,携带A/G、G/G基因型的个体胃癌发病风险增加,分层因素也影响这一结果.     

胃癌患者CTLA－4启动子及外显子区域基因多态性的研究

目的：探讨细胞毒性T淋巴细胞相关抗原4（CTLA－4）基因外显子49位点及启动子1661位点单核苷酸多态性（SNP）、幽门螺杆菌（Hp）感染与青岛地区人群胃癌的发病率的关系。方法：采用聚合酶链反应－限制性片段长度多态分析（PCR－RFLP）检测来自青岛地区人群胃癌患者、萎缩性胃炎及对照组患者中位CTLA－4＋49A／G及－1661A／G基因多态性的分布,Hp检测采用病理学诊断。结果：1）胃癌组外显子49位AG及GG基因型频率显著高于对照组（P均〈0．05）,携带AG及GG基因型者罹患胃癌的风险分别增加至2．63倍及5．69倍。启动子1661位AG＋GG基因型频率显著高于对照组（P：0．01）,携带AG＋GG基因型的个体罹患胃癌的风险增加到2．63倍。2）CTLA－4＋49A／G：与AA／Hp阴性者相比,AG／Hp阴性、GG／Hp阴性、AG／Hp阳性及GG／Hp阳性人群罹患胃癌的风险都显著增加,其中GG／Hp阳性者增加至9．56倍（P=0．ooo）。3）CTLA－4－1661A／G：以AA基因型并Hp阴性者为对照,AG＋GG／Hp阴性、AA／Hp阳性、AG＋GG／Hp阳性个体罹患胃癌的风险增加,其中AG＋GG基因型并Hp阳性个体的患病风险显著增高,为对照组的4．04倍（P_0．008）。结论：CTAL－4＋49A／G及－1661A／G基因多态性与胃癌的遗传易感性相关。     

CTLA-4基因多态性、Hp感染与胃癌发病的相关性研究

目的：探讨细胞毒性T淋巴细胞相关抗原4（CTLA-4）基因启动子1661位点单核苷酸多态性（SNP）、幽门螺杆菌（Hp）感染与青岛地区人群胃癌的发病率关系。方法：通过聚合酶链反应-限制性片段长度多态法分析来自青岛地区人群胃癌、萎缩性胃炎及对照组患者中CTLA-4-1661A/G基因多态性的分布。Hp检测采用病理学诊断。结果：1）胃癌组启动子1661位AG＋GG基因型频率显著高于对照组（P=0.01）,携带AG＋GG基因型的个体罹患胃癌的风险提高2.63倍。2）以AA基因型并HP阴性者为对照,AG＋GG基因型并Hp阴性个体、AA基因型并Hp阳性、AG＋GG基因型并Hp阳性个体胃癌患病风险增高,其中AG＋GG基因型并Hp阳性个体的患病风险显著增高,为对照组的4.04倍（P=0.008）。结论：CTAL-4-1661基因多态性与胃癌的遗传易感性相关。     

非小细胞肺癌患者中肿瘤坏死因子相关凋亡诱导配体基因多态性及单倍型研究

目的 探讨肿瘤坏死因子相关凋亡诱导配体(TRAIL)基因多态性及单倍型与非小细胞肺癌(NSCLC)的关系.方法 收集NSCLC患者592例,健康对照者636例,聚合酶链反应(PCR)扩增TRAIL目的基因后,直接测序检测TRAIL基因3’非编码区(G1525A/G1588A/C1595T)3种单核苷酸多态性,并做TRAIL单倍型分析.结果 与对照组比较,TRAIL G1525A突变等位基因(A)和基因型(GA+ AA)的频率在NSCLC组中明显降低(P＜0.01);NSCLC组TRAIL GI588A和C1595T两位点突变等位基因(A)和(T)的频率亦明显低于对照组(P＜0.01).进一步分层分析显示,Ⅰ期+Ⅱ期NSCLC患者中TRAIL C1595T突变等位基因(T)和(CT+ TT)基因型频率分别为47.89％和62.01％,Ⅲ期+Ⅳ期NSCLC患者中分别为58.80％和74.65％,两组差异均有统计学意义[优势比(OR)值分别=1.553和1.804,95％可信区间(CI):1.234 ～1.955和1.268～2.567,P＜0.01].Ⅲ期+Ⅳ期NSCLC患者中TRAIL G1525A突变等位基因(A)的频率为47.54％,较Ⅰ期+Ⅱ期NSCLC患者明显增加(40.75％,OR=1.318,95％ CI:1.658 ～1.047,P＜0.05).单倍型分析TRAIL基因(G1525A/G1588A/C1595T)3个位点紧密连锁,NSCLC组中AAT单倍型频率显著低于对照组(42.45％比58.23％,95％CI:1.525～2.824,P＜0.01);GAT单倍型频率在NSCLC组中明显增高(9.98％比0.21％,95％ CI:0.015～0.059,P＜0.01).结论 TRAIL(G1525A/G1588A/C1595T)基因多态性及单倍型与NSCLC的易感性密切相关.     

瘦素基因启动子区-2548 G/A多态性与胆囊胆固醇结石的相关性分析

目的探讨瘦素基因启动子区-2548 G/A功能多态性与胆囊胆固醇结石之间的相关性。方法采用聚合酶链反应-限制性片段长度多态性技术对118例胆囊结石患者和53例正常对照人群进行瘦素基因启动子区-2548 G/A基因多态性分析,研究等位基因和基因型分布规律。结果瘦素基因启动子区-2548 G/A多态性在2组中的分布差异有统计学意义,胆囊结石组中AA+GA基因型频率明显高于对照组(2χ=4.251,P=0.039),AA+AG基因型患胆囊结石的风险是GG基因型的2.813倍(OR=2.813,95%CI=1.020～7.757)。等位基因频率在2组中分布也存在差异,胆囊结石组A等位基因频率明显高于对照组(2χ=5.791,P=0.016),A等位基因携带者患胆囊结石的风险是G等位基因携带者的1.777倍(OR=1.777,95%CI=1.110～2.844)。结论瘦素基因启动子区-2548 G/A功能多态性与胆囊结石易感性有关,A等位基因是胆囊结石发病的遗传易感基因,G等位基因是胆囊结石的保护基因。     

CD14基因-260A/G位点多态性与前列腺癌易感性的研究

目的研究CD14基因-260A/G位点多态性与前列腺癌易感性的关系。方法提取168例前列腺癌患者和208例对照组的外周血DNA标本,应用聚合酶链反应-连接酶特异检测技术（polymerase chain reaction-ligase detection reaction,PCR-LDR）分析前列腺癌患者CD14-260A/G位点多态性,比较不同基因型和前列腺癌易感性的关系,并探讨不同基因型与前列腺癌患者年龄、体重指数（body mass index,BMI）、吸烟、饮酒及肿瘤家族史的关系。结果总体来说CD14基因-260A/G多态性与前列腺癌易感性之间无显著相关性（P=0.284,OR=1.27,95%CI=0.82～1.94）;饮酒（P=0.003）和肿瘤家族史（P〈0.001）与前列腺癌的发生密切相关;在分层分析中,年龄〈70岁的男性携带CD14-260G（AG＋GG）等位基因者能增加前列腺癌的易感性（P=0.011,OR=2.93,95%CI=1.28～6.70）。结论 CD14基因-260A/G位点多态性在总体上与前列腺癌易感性无显著相关性,但在年龄小于70岁男性中,携带有CD14-260G等位基因者患前列腺癌的危险性却明显增高。     

细胞因子基因多态性与胃腺癌发生及其临床病理特点的关系

目的 探讨肿瘤坏死因子α（TNF-α）和白细胞介素6（IL-6）基因单核苷酸多态性（SNP）与胃腺癌合并或未合并幽门螺杆菌（Hp）感染的关系.方法 采用基因芯片技术检测130例胃腺癌患者（胃癌组）和142例健康对照人群（对照组）中TNF-α-238G/A,-308G/A和IL-6-597G/A,-174G/C,-572G/C位点多态性.同时应用酶联免疫吸附试验（ELISA）测定两组血清中Hp-IgG/IgM/IgA型抗体浓度.结果 胃癌组Hp的感染阳性率明显高于对照组（P＜0.01, 相对危险度[OR]=2.59）.TNF-α-238GA基因型和A等位基因频率,胃癌组明显高于对照组（P＜0.01,OR=2.44 ;P＜0.01,OR=2.13）;Hp阳性胃癌组明显高于Hp阴性胃癌（P＜0.05,OR=4.53 ;P＜0.01,OR=3.52）;低分化胃癌组显著高于高分化胃癌组（P＜0.05,OR=4.16）.胃癌组IL-6-572CC基因型频率明显低于对照组（P＜0.01,OR=0.17）.未见TNF-α和IL-6其他位点的SNP与胃癌组或Hp阳性胃癌组有任何相关性.结论 TNF-238GA基因型及其等位基因A与胃腺癌或感染Hp的胃腺癌易感性相关,而IL-6-572CC基因型则能降低胃腺癌易感性.     

环氧合酶-2基因多态性与膀胱癌的易感性

目的 探讨环氧合酶-2(COX-2)基因多态性与膀胱癌易感性的关系.方法 采用病例对照研究方法,以聚合酶链反应-限制性片段长度多态性技术(PCR-RFLP)及错配聚合酶链反应-限制性片段长度多态性技术(PIRA-PCR)分别检测180例膀胱癌患者和180例非肿瘤患者COX-2基因-765G/C、-1195G/A和-8473T/C 3个多态位点,采用x2检验比较不同基因型与膀胱癌风险的关系.结果膀胱癌组和对照组COX-2-765G/C及-1195G/A 2个位点的3种基因型频率分布差异无统计学意义(P=0.582,P=0.270);2组间COX-2-8473T/C位点的3种基因型分布差异有统计学意义(P=0.041),携带突变等位基因C的个体(-8473TC+CC)患膀胱癌的风险显著降低(OR=0.56,95%CI=0.35～0.88).结论 COX-2-765G/C以及-1195G/A可能与膀胱癌易感性无关,COX-2-8473T/C与膀胱癌易感性相关.     

南京地区汉族人群TRAIL基因多态性与前列腺癌的易感性研究

目的:探讨南京地区汉族人群中肿瘤坏死因子相关凋亡诱导配体(TRAIL)基因多态性与前列腺癌(PCa)易感性的关系。方法:采用病例对照研究,提取187例PCa患者和237例非PCa健康人(对照组)外周血基因组DNA,应用聚合酶链反应-连接酶特异检测技术(PCR-LDR)分析186例PCa患者和237例对照组TRAIL基因-716位点的多态性,比较不同基因型与PCa易感性的关系。结果:TRAIL基因启动子区存在一个SNP位点(-716A/G),基因型分别为AA型、AG型和GG型;Logistic回归分析显示,携带AG、GG和AG+GG基因型的个体与PCa发病风险之间无明显相关性(OR=0.89,95%CI=0.54～1.47;OR=0.94,95%CI=0.69～1.27;OR=0.87,95%CI=0.54～1.41)。结论:中国南京地区汉族人群中TRAIL基因-716位点基因多态性对PCa易感性无明显影响。     

脓毒症易感性与IRAK-M基因多态性的相关性

目的 探讨脓毒症易感性与IRAK-M基因多态性的关系.方法 选择脓毒症患者82例为实验组,118例健康人群为对照组.应用聚合酶链反应(PCR)-限制性片段长度多态性分析法(RFLP)分析IRAK-M+22148G＞A基因多态性.结果 脓毒症组IRAK-M+22148G＞A位点G/G基因型频率高于对照组(81.7%比28.8%),差异有统计学意义(P＜0.01),G等位基因频率高于对照组(84.1%比33.9%,P＜0.01),差异有统计学意义,脓毒症组肿瘤坏死因子(TNF)-α、白细胞介素(IL)-6水平高于对照组[(843.00±97.34)ng/L比(287.00±79.12)ng/L;(741.00±65.61)ng/L比(194.00±58.47)ng/L],差异有统计学意义(P＜0.05);G/G基因型与脓毒症之间有明显相关(OR=11.03,95%CI:5.55～21.94).结论 IRAK-M+22148G/A基因多态性与脓毒症的易感性相关,G/G基因型者易患脓毒症.

Abstract：

Objective To determine the association between the genetic polymorphisms of IRAK-M and the susceptivity of sepsis. Methods Two candidate gene loci in + 22148G ＞ A patients with 82 sepsis infection and 118 heahhy controls were investigated. The polymorphisms were assessed by the polymerase chain reaction (PCR) and the restrict fragment length polymorphisms (RFLP). Results In sepsis group and control group, the frequency of G/G gene was 81.7% and 8. 8% ( P ＜0. 01 ) and that of G allele was 84.1% and 33.9% ( P ＜0. 01 ), respectively. The levels of tumor necrosis factor (TNF) -α and interleukin (IL) -6 in sepsis group were higher than in control group [ ( 843.00±97.34) vs (287.00±79.12) ng/L;(741.00±65.61) vs (194.00±58.47)ng/L,P＜0.05].The G/G genotype was associated with sepsis (OR=11.03,95% CI=5.55-21.94).Conclusion The genetic polymorphism of +22148 site of IRAK-M gene is associated with the susceptivity of sepsis.The G/G genotype is susceptive to sepsis.     

Polymorphisms in cytotoxic T lymphocyte associated antigen-4 influence the rate of acute rejection after renal transplantation in 167 Chinese recipients

Gene polymorphisms of cytotoxic T lymphocyte associated antigen 4 (CTLA4) play an influential role in the graft rejection and long-term clinical outcome of organ transplantation. We investigated the associations of five CTLA4 single nucleotide polymorphisms (SNPs) (rs733618T/C, rs4553808A/G, rs5742909C/T, rs231775G/A, rs3087243G/A) on the early acute rejection (AR) of Chinese deceased donor renal transplantation recipients. Genotyping of the CTLA4 SNPs was performed in 167 deceased donor renal transplantation recipients. Each patient underwent a 6-month follow-up observation for AR. The incidence of AR during the 6 months post-transplantation was 26.9% (45 out of 167 patients). Patients experiencing AR were found to have a higher frequency of the rs733618TT genotype and T allele (p=0.000 and p=0.002, respectively). While the haplotype CACAG was merely observed in non-AR group (corrected p=0.000), the frequency of haplotype TACGG was significantly higher in AR group than in non-AR group even after 50,000 permutation tests (corrected p=0.018). In conclusion, these polymorphisms statistically significantly associated with acute renal allograft rejection may be considered as a risk factor of AR in Chinese renal transplantation recipients except for haplotype CACAG as a protective one.     

Polymorphisms in CYP1A1 gene are associated with male infertility in a Chinese population

Cytochrome P4501A1 (CYP1A1) is a key enzyme in phase I bioactivation of polycyclic aromatic hydrocarbons (PAHs), which have potential reproductive toxicity. The aim of this study was to investigate the association of the CYP1A1 polymorphisms with male infertility in a Han-Chinese population. We genotyped two polymorphisms, CYP1A1*2A and CYP1A1*2C, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in a hospital-based case-control study including 192 infertile patients with non-obstructive azoospermia or severe oligozoospermia and 226 fertile controls. We found that the genotype distribution of CYP1A1*2C was significantly different between the patients and the controls (p = 0.019). Analysis showed that CYP1A1*2C AG genotype was associated with a significantly decreased risk of male infertility [odds ratio (OR) = 0.56, 95% confidence interval (95% CI) = 0.36-0.86, p = 0.005] compared with the AA genotype. A statistically significantly decreased risk of male infertility was found to be associated with the CYP1A1*2C AG genotype plus GG genotype compared with CYP1A1*2C AA genotype (OR = 0.60, 95% CI = 0.40-0.91, p = 0.011). No significant association was detected between CYP1A1*2A polymorphism and male infertility. Haplotypic analysis showed a significantly increased risk of male infertility associated with the C-A haplotype compared with the T-A haplotype (OR = 1.98, 95% CI = 1.27-3.09), indicating a synergic effect of the two polymorphisms. Our results suggest that the CYP1A1 polymorphisms may contribute to the pathogenesis of male infertility in the Han-Chinese population.     

先天性巨结肠与RET基因多态性和单倍型的关系

目的 研究先天性巨结肠与RET基因多态性的关系,进一步推断主要的先天性巨结肠相关单倍型,并分析浙江汉族人群RET基因单核苷酸多态性的分布特点.方法 采集2005年至2007年浙江大学医学院附属儿童医院收治的123例汉族先天性巨结肠患儿以及194例健康体检儿童的外周血,并提取DNA.根据选取的RET基因单核苷酸多态性合成引物,行PCR扩增,经2%琼脂糖电泳证实PCR产物后,将PCR产物进一步纯化、测序.采用PHASE软件计算单倍型频率.将健康儿童RET基因各位点等位基因频率与文献和数据库已有的其他种族资料进行比较.RET基因和先天性巨结肠间关系的分析采用x2检验,以比值比及95%可信区间表示.结果 RET基因-5G＞A、-1A＞C、c135G＞A、c2307T＞G 4个位点的少见基因型AA、CC、AA、GG在先天性巨结肠患儿中的频率显著高于健康儿童(x2=57.775,20.469,57.040,38.869,P＜0.05).RET基因-5A、-1C、c135A、c2307G在先天性巨结肠患儿中等位基因频率显著高于健康儿童(x2=85.114,53.117,77.005,70.161,P＜0.05).RET基因各位点等位基因频率在不同类型先天性巨结肠间的差异无统计学意义(x2=0.048,0.265,0.395,0.027,P＞0.05).RET基因4个位点单倍型中ACAG占先天性巨结肠患儿的75.2%,显著高于健康儿童的38.7%(x2=62.776,P＜0.05).本组健康儿童RET基因-5A、c135A和c2307G位点的少见等位基因频率明显高于欧洲高加索人和非洲约鲁巴人(P＜0.05).结论 RET基因-5G＞A、-1A＞C、c135G＞A、c2307T＞G 4个位点多态性与浙江汉族人群先天性巨结肠发病明显相关,但与先天性巨结肠类型无关.RET基因4个位点单倍型中ACAG是浙江汉族人群的先天性巨结肠相关核心单倍型.浙江汉族人群的RET基因-5、c135和c2307位点的少见等位基因频率显著高于欧洲高加索人和非洲约鲁巴人.     

Prediction of initial dosage of tacrolimus in patients with idiopathic membranous nephropathy by testing CYP3A5 genetic polymorphisms

Objective To explore the effect of CYP3A5 gene polymorphisms on the whole blood trough concentration (C0) of tacrolimus (TAC) in patients with idiopathic membranous nephropathy to identify an economical and optimal initial dosage delivering the best curative effect with minimum drug adverse reaction. Methods Sixty patients with idiopathic membranous nephropathy were enrolled in this study. The CYP3A5 genotype was tested by fluorescence in situ hybridization (FISH). According to CYP3A5 genotype, the patients were divided into three groups (AA, AG, and GG). At the same time, theC0 of TAC was measured by enzyme multiplied immunoassay technique (EMIT).C0 of TAC, daily dosage of TAC and the concentration/dose(C0/D) ratio of TAC were detected after taking medicine at 8, 12, 16 and 24 weeks respectively, so as to corroborate the relation between CYP3A5 gene polymorphisms and the dosage of TAC. Results The oral TAC dosage had great variation among individuals. The occurrence of the CYP3A5 genetic polymorphisms (A6986G) designated as G was 53.33%. D andC0 were significantly different at 8, 12, 16 and 24 weeks respectively (all P＜0.05). To reach the sameC0, the patients with AA needed 2-3-fold dosage of TAC than GG; and those with AG needed 1-2-fold dosage of TAC than GG. After 24-week treatment, the effective rate of AA group was markedly lower than AG and GG (16.67% vs 81.25%, 16.67% vs 87.50%,all P＜0.001). Among CR, PR and NR, there were no significantly difference onC0 orC0/D of TAC (P＞0.05). Conclusions CYP3A5 genotypes are correlated with blood concentration of TAC. CYP3A5 genotyping may be a new approach to predict the optimal initial dosage of tacrolimus in idiopathic membranous nephropathy.     

COX-2基因启动子区单核苷酸多态与肝癌遗传易感性的关系

目的 探讨COX-2基因启动子区的单核苷酸多态与肝癌发生风险的关系.方法 研究对象包括270例肝癌病人和540例正常对照.采用PCR-限制性片段长度多态方法 进行COX-2基因启动子区-1290A＞G,-1195G＞A和-765G＞C多态的基因型分析,不同基因型与单体型携带者发生肝癌的相对风险度的评估使用比值比(OR)及95%可信区间(CI).结果 多变量logistic回归分析显示-1195AA和-765GC基因型与肝癌风险增高相关,OR值分别为1.57(95%CI=1.01～2.44)和2.89(95%CI=1.65～5.08).单体型分析显示:与A_1290-G-1195-G_765相比较,含有-1195A等位基因的A-1290-A-1195-G-765和A-1290-A-1195-C-765两种单体型发生肝癌的相对风险增高,OR值分别为1.27(95%CI=1.01～1.60)和7.95(95%CI=1.76～36.02).同时包含-1195A等位基因和-765C等位基因的单体型发生肝癌的OR值较高.结论 COX-2基因启动子区的-1195G＞A和-765G＞C单核苷酸多态与肝癌遗传易感性相关.     

Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy

IgA nephropathy (IgAN) is a polygenic disorder and the precise role of genetic factors remains elusive. Increasing evidences have implicated the aberrant galactosylation of IgA1 molecules in the pathogenesis of IgAN. The galactosyltransferase, core 1 beta3-Gal-T, and its chaperone, Cosmc, play important roles in beta1,3 glycosylation of IgA1 molecule. A case-control association study was performed to investigate the association between single-nucleotide polymorphisms (SNPs) of C1GALT1 and C1GALT1C1 genes and the susceptibility to IgAN. A total of 1164 subjects were enrolled, including 670 IgAN patients and 494 geographically matched healthy controls. Five SNPs, -734C/T, -465A/G, -330G/T, -292C/-, and 1365G/A in C1GALT1 were selected as tagging SNPs. The D allele and DD genotype of -292C/- in IgAN patients were significantly lower than in the controls (P<0.01). The frequency of haplotype YATIG (Y=C or T) was significantly lower in patients than in controls (0.0719 vs 0.1168, P=2.775 x 10(-4), odds ratio (OR)=0.70). The haplotype YAGDA (0.1236 vs 0.0791, P=3.815 x 10(-3), OR=1.77) and YATDG (0.0840 vs 0.0298, P=1.258 x 10(-5), OR=3.03) were significantly higher in patients than in controls. The present study suggested that the polymorphisms of C1GALT1 gene were associated with the genetic susceptibility to IgAN in Chinese population.