葡萄糖调节蛋白78基因3'UTR多态性与男性弱精子症的相关性研究

目的:探究葡萄糖调节蛋白78(GRP78)基因3'UTR单核苷酸多态性(rs12009、rs1140763和rs16927997位点)与弱精子症的关系。方法:选取400例弱精子症不育男性为弱精子症组,400例有生育史的健康男性为对照组,运用多重单碱基延伸PCR(SNa Pshot)对所有研究对象GRP78基因的rs12009、rs1140763和rs16927997位点进行基因分型,再分析此3个位点多态性与男性弱精子症的相关性。结果:弱精子症组和对照组的前向运动精子百分率分别为(20.09±8.18)%、(57.16±13.45)%,两者差异具有统计学意义(P0.01)。GRP78基因rs12009和rs1140763存在CC、CT、TT 3种基因型和C、T 2种等位基因;rs16927997存在GG、GA、AA 3种基因型和G、A 2种等位基因。在弱精子症组中,rs12009位点C、T等位基因频率分别为47.3%、52.7%;rs1140763位点C、T等位基因频率分别为52.0%、48.0%;rs16927997位点G、A等位基因频率分别为4.4%、95.6%。而在对照组中,rs12009位点C、T等位基因频率分别为44.3%、55.7%;rs1140763位点C、T等位基因频率均为50.0%;rs16927997位点G、A等位基因频率分别为6.0%、94.0%。3个位点基因型及等位基因频率在弱精子症组和对照组中的分布差异均无统计学意义(P0.05);进一步单倍型分析,发现在弱精子症组和对照组中主要为C-C-A、T-C-G、T-T-A 3种单倍型,但也未发现单倍型与男性弱精子症存在相关性。结论:GRP78基因3'UTR多态性与男性弱精子症的发病风险不存在相关性。     

男性FASL-844基因多态性与特发性无精子症及严重少精子症发病风险的研究

目的:研究FASL-844位点基因多态性在中国南方汉族男性人群中的分布,探讨其与特发性无精子症及严重少精子症发病风险的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,分析184例特发性无精子症及严重少精子症患者与236例正常生育男性FASL-844位点的基因型及等位基因频率,分析该基因多态性与特发性无精子症及严重少精子症之间的关系。结果:不育组与正常生育组FASL-844CT和TT基因型分布差异有显著性(P=0.024;P=0.008)。携带FASL-844TT基因型个体罹患特发性无精子症或严重少精子症的风险是CC基因型个体的2.76倍(95%CI:1.20~6.35);将携带CC和CT基因型的个体合并,携带TT基因型的个体罹患特发性无精子症或严重少精子症的风险是(CC+CT)基因型个体的2.90倍(95%CI:1.28~6.58)。结论:FASL-844基因多态性可能是中国南方汉族男性特发性无精子症及严重少精子症的遗传易感因素之一。     

胰岛素降解酶基因单核苷酸多态性与前列腺癌的关系研究

目的研究胰岛素降解酶(IDE)基因单核苷酸多态性与前列腺癌之间的关系。方法运用TaqMan探针SNP分析法测定192例胰腺癌患者和258例正常对照IDE基因rs4646953和rs2251101两个位点基因型,并分析IDE基因多态性与前列腺癌的关系。结果病例组IDE基因rs4646953位点TT、CT以及CC3种基因型等位基因频率分别为85.4%、14.1%和0.5%;对照组3种基因型等位基因频率分别为88.4%、10.1%和1.6%。病例组rs2251101位点TT、CT以及CC3种基因型频率分别为81.8%、16.7%和1.6%;对照组3种基因型等位基因频率分别为73.6%、23.3%和3.1%。病例组IDE基因rs4646953位点的基因型分布与正常对照组比较未见统计学差异(P=0.348),rs2251101位点病例组CT和CC基因型低于正常对照组(P=0.039)。结论 IDE基因rs2251101位点变异与前列腺癌相关。     

骨桥蛋白基因多态性与弱精子症的相关性分析

目的:探究骨桥蛋白(OPN)基因单核苷酸多态性(rs1126772、rs117291487、rs11730582、rs142608941、rs6813526)与男性弱精子症的关系。方法:选取135例弱精子症不育男性为病例组,239例有生育史的健康男性作为对照组,运用多重单碱基延伸PCR技术(SNaPshot)对OPN基因rs1126772、rs117291487、rs11730582、rs142608941、rs6813526位点进行基因分型检测,分析这5个位点多态性与男性弱精子症的相关性。结果:OPN基因rs1126772位点GA基因型和A等位基因与弱精子症发病风险存在相关性(GA vs AA:OR=0.55, 95%CI, 0.35～0.86,P=0.009;A vs G:OR=0.64, 95%CI, 0.46～0.89,P=0.007);rs11730582位点CT基因型和T等位基因与弱精子症发病风险相关(CT vs TT:OR=0.526, 95%CI, 0.34～0.82,P=0.009; T vs C:OR=0.60, 95%CI, 0.44-0.83,P=0.002),单倍型分析发现,AATCT单倍型可能具有降低弱精子症的发病风险(AATCT:OR=0.61, 95%CI, 0.42～0.88,P=0.008)。结论:OPN基因rs1126772和rs11730582位点多态性可能与降低弱精子症的发生相关。     

PRM1基因SNP位点-190C-＞A多态性对精子畸形率的影响

目的:探讨鱼精蛋白基因1(protamine 1,PRM1)单核苷酸多态性(SNP)与畸形精子症的关系。方法:收集畸形精子症不育患者(病例组,n=157)和精子形态正常男性(对照组,n=37)精液样本,进行形态学分析并提取基因组DNA,应用Sequenom MassARRAY SNP分型技术对PRM1基因-190C->A SNP位点(rs2301365)进行基因分型,比较病例组与对照组基因型的分布差异及病例组不同基因型间精子形态参数的差异。结果:病例组中,基因型CC、CA、AA的分布频率及个体数分别为38.9%(61)、44.6%(70)、16.6%(26),对照组为45.9%(17)、51.4%(19)、2.7%(1),病例组AA基因型分布频率显著高于对照组(P<0.05)。病例组等位基因C、A的分布频率分别为57.6%、42.4%,对照组为71.6%、28.4%,病例组等位基因A的频率与对照组差异无显著性(P>0.05)。病例组基因型CC与CA、AA、CA+AA在精子形态学参数的比较,差异无统计学意义(P>0.05)。结论:PRM1基因SNP位点-190C->A可能与中国汉族畸形精子症男性不育存在相关,该位点可能导致精子形态异常,但所致形态异常并无部位上的特异性。     

谷胱甘肽S-转移酶基因遗传多态性与特发性男性不育症相关性研究

目的该研究旨在探讨谷胱甘肽S-转移酶基因(GST)M1、T1及P1基因多态性与特发性男性不育症的相关性。方法该病例-对照研究包括246例特发性少弱精子症男性不育患者及117例正常健康有生育史男性对照。采用聚合酶链反应(PCR)、聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法分别对GSTM1、GSTT1和GSTP1基因进行分型。结果 GSTM1基因缺失型在正常对照组和特发性少弱精子症不育患者组基因型频率分别为41.88%和60.57%,具有显著差异(P=0.001);GST T1基因缺失型在正常对照组和特发性少弱精子症不育患者组基因型频率分别为47.86%和62.60%,具有显著差异(P=0.008);GSTM1/T1基因缺失型在正常对照组和特发性少弱精子症不育患者组基因型频率分别为14.53%和38.62%,具有显著差异(P0.001);GSTP1基因突变型在正常对照组和特发性少弱精子症不育患者组基因型频率分别为27.35%和32.11%,无明显差异(P=0.847)。结论GSTM1、GSTT1基因缺失型分别是特发性男性不育症的危险因素。GSTP1基因突变型与特发性男性不育症患者无明显相关性。     

超氧化物歧化酶2基因rs4880位点单核苷酸多态性与男性不育发病风险的相关性研究

目的:探讨超氧化物歧化酶2(SOD2)基因rs4880位点单核苷酸多态性与男性不育发病风险的相关性。方法:采用病例-对照研究的方法,选取519例特发性男性不育患者作为病例组,年龄19~40(28.92±4.37)岁,并按精子浓度和前向运动(PR)精子百分率分为无精子症组(n=143)、严重少精子症组(n=175)、少精子症组(n=89)和弱精子症组(n=112)4个亚组;以338例正常生育的男性作为对照组,年龄19~40(28.40±4.25)岁,进行临床数据的采集。用Sequenom Mass Array技术对SOD2 rs4880位点进行基因分型,用Logistic回归模型分析SOD2 rs4880位点不同基因型与男性不育之间的关系。结果:病例组与正常对照组FSH、PR精子百分率、精子浓度存在显著差异(P0.01)。与野生型纯合TT比较,杂合突变型TC(OR=0.90,95%CI:0.65~1.25,P=0.516)与纯合突变型CC(OR=1.49,95%CI:0.38~5.81,P=0.566)均显示与男性不育无相关性;亚组分析中均显示该基因位点与男性不育不存在相关性:无精子症组中,TC/TT(OR=0.99.95%CI:0.62~1.58,P=0.967),CC/TT(OR=1.58,95%CI:0.26~9.59,P=0.619;严重少精子症组中,TC/TT(OR=1.07.95%CI:0.70~1.64,P=0.750),CC/TT(OR=1.31,95%CI:0.22~7.96,P=0.767;少精子症组中,TC/TT(OR=0.83.95%CI:0.47~1.48,P=0.535),CC/TT(OR=1.22,95%CI:0.13~11.90,P=0.865);弱精子症组中,TC/TT(OR=0.59.95%CI:0.33~1.05,P=0.074),CC/TT(OR=1.84,95%CI:0.30~11.16,P=0.510)。结论:SOD2 rs4880位点基因多态性与男性不育不存在相关性,但是由于实验样本条件的限制,需要更大的样本量以及样本选取范围来进一步研究验证。     

DAZL基因单核苷酸多态性与弱畸精子症的相关性研究

目的:探讨DAZL基因(deleted in azoospermia like)单核苷酸多态性(SNP)与弱精子症伴畸形精子症男性不育的关系。方法:收集弱畸精子症不育患者(病例组,n=173)和精液正常男性(对照组,n=175)精液样本,进行精液常规及精子形态学分析并提取精子基因组DNA,应用Sequenom MassARRAY SNP分型技术对DAZL基因A260G和A386G多态性位点进行基因分型,比较病例组与对照组基因型的分布差异。结果:在病例组与对照组中,DAZL基因A260G、A386G这两个位点均表现为野生基因型,无突变基因型。结论:DAZL基因A260G和A386G两个多态性位点与汉族男性精子活力低下及精子形态异常所致不育可能不存在相关,不足以视为男性不育的易感基因。     

hsCRP基因突变与新疆农村维吾尔族慢性肾脏病的相关研究

目的:探讨慢性肾脏病非透析患者hs CRP基因启动子区域rs2808630、rs1205、rs2794520、rs1800947、rs1417938位点单核苷酸多态性的分布频率,进而探讨该基因多态性位点与新疆农村维吾尔族慢性肾脏病患病的关系。方法:87例慢性肾脏病非透析患者及298例健康者均测定血浆hs CRP,并应用SNa Pshot方法测定rs2808630、rs1205、rs2794520、rs1800947、rs1417938位点的基因型,并用等位基因特异性杂交分析法对hs CRP多态性位点进行分析。结果:hs CRP基因rs2794520位点基因型CT在CKD组出现的几率大于健康对照组(P0.05),基因型TT在CKD组中出现的几率小于健康对照组(P0.05);等位基因C和T CKD组与健康对照组差异有统计学意义(P0.05)。rs1205位点基因型CT在CKD组出现的几率大于健康对照组(P0.05),基因型TT在CKD组中出现的几率小于健康对照组(P0.05);等位基因C和T CKD组与健康对照组差异有统计学意义(P0.05),另rs1800947、rs2808630、rs1417938位点所检测出的基因型在慢性肾脏病患者组与健康对照组差异无统计学意义。单体型T-T-C-T-T在CKD组的频率小于健康对照组(P=0.02,OR=0.668,95%CI=0.470~0.949)。结论:hs CRP基因rs2808630、rs1205可能与新疆农村维吾尔族CKD患病易感性有关,单体型T-T-C-T-T有可能是新疆农村维吾尔族CKD患病的一个保护因素。     

MTHFR基因多态性与贵阳地区原发性不育症的关系研究

目的 研究亚甲基四氢叶酸还原酶(MTHFR)基因677和1298位点多态性与贵阳地区原发性男性不育症的关系。方法 选取2018年1月至2021年12月期间就诊于贵阳市妇幼保健院的254例原发性男性不育患者为病例组，以配偶自然受孕且生育过正常新生儿的238例健康男性为对照组。采用Taqman探针法检测两组MTHFR基因677和1298位点的基因型，并统计分析其基因型分布特点、等位基因分布频率以及MTHFR基因型与男性不育症的相关性。结果 基因检测结果显示，MTHFR 677位点包括CC、CT、TT三个基因型；1298位点包括AA、AC、CC三个基因型。病例组和对照组MTHFR基因677位点TT基因型频率分别为14.17%、14.71%,T等位基因频率分别为37.60%、36.13%;病例组和对照组1298位点CC基因型频率分别为5.51%、3.78%,C等位基因频率分别为23.43%、22.27%;两组间各位点基因型频率和等位基因频率比较均无统计学差异(P>0.05)。结论 MTHFR基因677和1298位点多态性与贵阳地区原发性男性不育症无明显关系。     

The possible role of NF-κB1 Rs28362491 polymorphism in male fertility of Egyptian population

Male reproductive impairment is responsible for at least 50% of cases of couple infertility. Nuclear factor-kappa B (NF-κB) has been functionally linked to germ cell apoptosis, which may affect human fertility. The aim of this study was to determine the association between the rs28362491 SNP of the NF-κB1 gene and infertility in Egyptian men. In this case–control study, semen and blood samples of 247 infertile men, constituting the case group, and of 113 fertile healthy men as the control group were analysed. All study participants were genotyped for polymorphism of the NF-κB1 gene (rs28362491) by the polymerase chain reaction—restriction fragment length polymorphism (PCR-RFLP) technique. Heterozygous I/D genotype of the NF-κB1 rs28362491 polymorphism was associated with a significantly lower risk of poor semen quality, including asthenozoospermia, astheno–teratozoospermia, and oligo–astheno–teratozoospermia, when compared to I/I genotype (odds ratio = 0.25, 0.26, 0.18, p < .0005, <.0005, <.0005) respectively. Overall, the presence of the D allele was associated with a significantly decreased risk of poor sperm quality as compared to the I allele (odds ratio = 0.56, 0.64, 0.49, p = .050, .038, .001). In conclusion, these results suggest that heterozygosity of the NF-κB1 gene may play a protecting role against male infertility in Egyptians.     

青少年特发性脊柱侧凸生长激素基因多态性研究

目的 研究生长激素(GH)基因多态性与青少年特发性脊柱侧凸(AIS)发生发展的关系.方法 本研究包括265例AIS患者及193名正常对照.在AIS患者组,记录其最大Cobb角.采用PCR-RFLP的方法 对GH基因启动子区域多态性位点rs2854184进行基因分型.结果 在AIS患者组,GH基因rs2854184多态性位点的3个基因型AA、AT、TT分别占38.3%,50.3%,11.4%,正常对照组分别占39.6%,50.2%,10.10k,2组比较差异无统计学意义.同样,在MS患者组rs2854184多态性位点的2个等位基因A、T分别占63.5%,36.5%,正常对照组分别占64.7%,35.3%,2组比较差异无统计学意义.另外在AIS组内,多态性位点rs2854184不同基因型所对应最大Cobb角分别是从33.8°±10.0°,AT 36.4°±15.0°,TT34.5°±9.1°,3者比较差异无统计学意义.结论 GH基因rs2854184位点多态性与AIS的发生发展没有明显关系.     

亚甲基四氢叶酸还原酶基因多态性及同型半胱氨酸水平与冠心病关系的研究

目的：探讨亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性、血清同型半胱氨酸（Hcy）水平与冠心病发生的关系。方法：收集解放军总医院第一附属医院收治的冠心病患者172例和健康体检者（正常对照组）160例的空腹静脉血,应用基因芯片技术联合检测MTHFR基因C677T多态性位点,并比较冠心病患者和健康体检者的MTHFR基因型及不同MTHFR基因型冠心病患者中血清Hcy水平的变化。结果：①冠心病组与正常对照组MTHFR基因C677T分布频率分别为CC型20.3%比32.5%（P〈0.05）、CT型44.8%比43.1%（P〉0.05）和TT型34.9%比24.3%（P〈0.05）;②冠心病组血清Hcy水平与正常对照组水平之间存在明显差异（P〈0.05）;③冠心病的TT基因型组的Hcy水平明显高于CC基因型组和CT基因型组,差异具有统计学意义（P〈0.05）。结论：冠心病组MTHFR C677T基因TT型分布频率及Hcy水平均高于正常对照组,MFHFR基因C677T TT型与冠心病的发生有关。     

Analysis of endothelial nitric oxide synthase (eNOS) G894T polymorphism and semen parameters in a Chinese Han population

Previous studies have shown that endothelial nitric oxide synthase (eNOS) gene may be involved in abnormal semen parameters. However, the relationship between eNOS G894T polymorphism and semen parameters remains controversial. The purpose of this study was to investigate the association of eNOS G894T polymorphism and semen parameters. The genotype frequency of eNOS G894T was determined in 270 idiopathic asthenozoospermia patients and 248 ethnically matched healthy volunteers using iPLEX genotyping assays on a MassARRAY^® (Sequenom, San Diego, CA, USA) platform. The statistical analysis performed with Fisher's exact test showed no significant difference in frequencies of genotypes between both groups. The logistic regression showed that genotypes GT, TT and allele T were nonassociated with increased risk of asthenozoospermia in the patient group with ≤5% or >5% sperm with normal forms. The dependence on genotypes of semen parameters was further investigated in both patients and control group. There was no significant difference as compared to control group (P > 0.05). Our study indicated that eNOS gene G894T polymorphism may not have an adverse effect on semen parameters in a Chinese Han population.     

Single nucleotide polymorphism C677T in the methylenetetrahydrofolate reductase gene might be a genetic risk factor for infertility for Chinese men with azoospermia or severe oligozoospermia

Aim： To analyze the distribution of the single nucleotide polymorphism （SNP） C677T in the methylenetetrahydrofolate reductase （MTHFR） gene in 355 infertile Chinese patients with idiopathic azoospermia or severe oligozoospermia and 252 fertile Chinese men as controls to explore the possible association of the SNP and male infertility. Methods： Using the polymerase chain reaction （PCR）-restriction fragment length polymorphism technique, the allele and genotype distribution of SNP C677T in the MTHFR gene were investigated in both patients and controls. Results： The frequencies of allele T （40.9% vs 30.4%, P = 0.002, odds ration [OR] = 1.58, 95% confidence interval [CI]： 1.24-2.02） and mutant homozygote （TT） （18.3% vs. 11.5%, P = 0.023, OR = 1.72, 95% CI： 1.07-2.76） as well as carrier with allele （TT ＋ CT） （63.4% vs. 49.2%, P = 0.0005, OR = 1.79, 95% CI： 1.29-2.48） in infertile patients were significantly higher than those in controls. After patient stratification, the significant differences in distribution of the SNP between each patient subgroup and control group still remained. Conclusion： Our findings indicate that there is an association of SNP C677T in the MTHFR gene with male infertility, suggesting that this polymorphism might be a genetic risk factor for male infertility in Chinese men.     

转化生长因子β1基因-509C/T多态性与原发性肾病综合征肾小管间质损伤的关系

目的 研究转化生长因子β1（TGF-β1）基因启动子－509C/T多态性与原发性肾病综合征（PNS）患者的易感性和肾小管间质损伤（TID）程度的相关性。 方法 采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术, 检测98例PNS患者和128名健康对照者TGF-β1基因启动子-509C/T位点的基因型, 并根据肾活检病理TID程度分级分组比较。采用双抗体夹心ELISA法,测定所有受试对象的血清TGF-β1水平。同时测尿蛋白量（24 h）、Scr、BUN、血压等。 结果 （1）PNS患者及健康对照人群均能检测出T、C两种TGF-β1等位基因,存在TT型、TC型、CC型3种基因型。（2）TGF-β1基因-509C/T位点多态性在PNS患者和健康人群中的分布差异无统计学意义;等位基因频率在两组间差异也无统计学意义。（3） TID轻度组、重度组TGF-β1基因-509C/T位点的基因型频率和健康对照组比较,差异有统计学意义（均P < 0.01）。TID重度组患者的T等位基因频率和TT基因型频率明显高于TID轻度组和健康对照组（均P < 0.01）,而TID轻度组和健康对照组间差异无统计学意义。（4）TID重度、轻度组及健康对照组TGF-β1血清水平两两比较,差异均有统计学意义（均P < 0.05）。PNS组TT基因型患者血清TGF-β1水平高于CC和CT基因型患者,且与CC基因型间差异有统计学意义（P < 0.05）。 结论 TGF-β1基因－509C/T多态性与PNS的发病无关,但其T等位基因可能是PNS患者TID的重要遗传因素。血清TGF-β1水平升高和TID程度与TT基因型有关。     

Seminal mast cells in infertile asthenozoospermic males

This work aimed to assess the possible association between the presence of seminal mast cells and asthenozoospermia. One hundred and seventy-six male subjects were investigated: group (Gr)1 (n=46) normozoospermic fertile controls, Gr2 (n=62) idiopathic asthenozoospermia, Gr3 (n=32) asthenozoospermia with scrotal varicocele and Gr4 (n=36) asthenozoospermia with leucocytospermia. Four smear slides were prepared for each semen sample to be stained with toluidine blue-pyronin to detect mast cells. A significant increase was shown in mast cell-positive samples among varicocele-associated and idiopathic asthenozoospermic patients in comparison with fertile controls. Seminal mast cells were also detected at higher frequency among smokers and in age group over 40 years. It is concluded that mast cells and their products may play a pivotal role in the pathogenesis of asthenozoospermia, possibly proposing a new goal for medical treatment of infertile males to pursue. In addition, this concept may in a way detain smoking as a cause of male infertility considering the clear abundance of mast cells in semen samples of smokers.     

Correlation between aldosterone synthase gene -344C/T polymorphism and early renal damage in Han population with essential hypertension

Objective To investigate the distribution of aldosterone synthase gene -344C/T polymorphism in patients with essential hypertension in Chinese Han population, and the association with hypertensive early renal damage. Methods Four hundred and eighteen essential hypertension cases in Shandong Provincial Qianfoshan Hospital from January 2012 to January 2015 were included in this study. According to urinary albumin/creatinine ratio, 182 cases were selected as hypertensive early renal damage group (RD group) and 236 essential hypertension without renal damage group (NRD group). Fast venous blood was collected to detect aldosterone synthase gene -344C/T polymorphism and blood lipids, blood glucose, aldosterone and other indicators. Results There were significant differences in genotype frequency and allele frequency distribution between RD group and NRD group (P＜0.05). The TT genotype and the T allele frequency in RD group were higher than those in NRD group (P＜0.05). The level of aldosterone in TT genotype was higher than that in CC and CT genotype (P＜0.05). The aldosterone synthase gene -344C/T polymorphism was not correlated with early renal damage in hypertension after correction of blood pressure (P＞0.05). Conclusions Aldosterone synthase gene -344C/T polymorphism is associated with hypertensive early renal damage. T allele is inclined to hypertensive early renal damage. Aldosterone synthase gene -344C/T polymorphism induces renal damage through elevated blood pressure.     

MTHFR基因多态性与2型糖尿病肾病相关性的研究

目的 研究亚甲基四氢叶酸还原酶（MTHFR）基因多态性与2型糖尿病肾病（DN）易感性的关系.方法 选择111例山西地区汉族人2型糖尿病患者,其中糖尿病肾病（DN＋）组56例,糖尿病非肾病（DN-）组55例,运用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）技术并结合琼脂糖凝胶电泳的方法检测111例患者的MTHFR基因多态性,测定各组间基因型频率和等位基因频率.结果 纯合基因型TT、T等位基因在DN＋组（21.43％,46.43％）的频率均明显高于DN-组（7.27％,29.09％）,差异均具有统计学意义（P＜0.05）.无论是在DN＋组还是DN-组中,TT基因型患者血同型半胱氨酸（Hcy）平均水平均大于CC基因型和CT基因型患者,DN＋组血浆Hcy水平明显高于DN-组,差异均具有统计学意义（P＜0.05）.在叶酸浓度≤6.92nmol/L时,DN＋组（24.24％,48.49％） TT型发生率及T等位基因频率明显高于DN-组（3.70％,25.93％）（P＜0.05）,当叶酸浓度＞6,92nmol/L时,DN＋组TT型发生率及T等位基因频率与DN-组无差异（P＞0.05）.结论 MTHFR基因C677T多态性与糖尿病肾病（DN）发生具有相关性,突变的T等位基因是DN易感基因,但其影响效果受叶酸浓度的影响.     

IL-28B单核苷酸基因多态性与CHB干扰素疗效的相关性

目的：探讨IL-28B单核苷酸基因多态性与慢性乙型肝炎（CHB）干扰素疗效的相关性。方法选取300例HBeAg阳性CHB患者，给予聚乙二醇化干扰素α（Peg-INF-α）规范治疗48周后以PCR法对IL-28B SNP rs12979860及IL-28B SNP rs8099917基因分型进行检测。结果治疗后HBV DNA定量、ALT、AST水平明显较治疗前下降（P＜0.05），HBeAg转移率53.13%，随访1年后应答率49.44%；Peg-INF-α应答患者与非应答患者IL-28B SNP rs12979860基因型CC、CT、TT分布及等位基因C、T频率比较差异无统计学意义（P＞0.05），IL-28B SNP rs8099917基因型TT、TG分布及等位基因T、G频率比较差异具有统计学意义（P＜0.05）。结论 IL-28B SNP rs8099917可能对干扰素治疗的应答反应性形成影响，其中等位基因G的频率升高可能提示着干扰素的成功应答，因而检测IL-28B SNP rs8099917对干扰素治疗的CHB患者治疗疗效有一定预测价值。