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。     

先天性巨结肠的SEMA3A基因单核苷酸多态性分析

目的探讨SEMA3A基因单核苷酸多态性（SNP）与先天性巨结肠发生的关系。方法应用PCR扩增后直接测序的方法．分析119例先天性巨结肠患者和93例正常人群中SEMA3Ars7804122、rs7978212个SNP位点基因型。结果SEMA3A基因rs797821位点的等位基因频率和基因型频率在先天性巨结肠组和正常对照组的分布差异无统计学意义（P〉0．05）。rs7804122位点的G等位基因（26．9％）和GG（5．0％）,AG（43．7％）基因型在先天性巨结肠组中的频率明显高于正常对照组（12．9％、1．1％、23．7％,P〈0．05）。结论SEMA3A基因是先天性巨结肠重要的易感基因．其rs7804122位点G等位基因是先天性巨结肠发病的危险因素。     

肿瘤坏死因子相关凋亡诱导配体启动子区-716位点单核苷酸多态性与前列腺癌危险因素的研究

目的：研究肿瘤坏死因子相关凋亡诱导配体（TRAIL）启动子区-716A／G位点单核苷酸多态性（SNP）与影响前列腺癌危险因素的关系。方法：应用聚合酶链反应-连接酶特异检测技术（PCR-LDR）分析186例前列腺癌患者TRAIL基因-716位点的多态性,比较不同基因型与前列腺癌患者诊断时的前列腺癌特异性抗原（PSA）、Gleason评分和TNM临床分期的关系。结果：TRAIL-716G（AG＋GG）等位基因与PSA、Gleason评分和TNM临床分期均具有显著的相关性（adjustedOR=0．04,0．07,0．08;95％CI：0．01～0．14,0．02～0．29,0．03～0．21）。结论：TRAIL-A716G（AG＋GG）等位基因可能与前列腺癌预后有关,携带TRAIL-716G（AG＋GG）等位基因的前列腺癌患者可能预后较好。     

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。     

TNFα基因-308A/G多态性与原发性肾病综合征的相关性研究

目的探讨TNF-α基因-308A/G多态性与原发性肾病综合征(primary nephrotic syndrome,PNS)临床和病理的相关性。方法利用聚合酶链反应-限制性片段长度多态性分析法来鉴定基因型,以检测PNS患者和对照组TNF-α基因-308A/G多态性分布规律。收集一般临床指标和PNS患者的病理资料,检测患者治疗前血清TNF-α,进行病例对照研究与临床病理资料分析。结果 PNS患者和对照组均检出A、G2种TNF-α-308A/G等位基因,3种组合基因型AA型、AG型、GG型。2种等位基因和3种基因型在2组分布频率无显著性差异(P0.05)。PNS组患者的年龄、性别、血脂、白蛋白、尿素氮、血肌酐和C反应蛋白水平中任何基因型的分布频率无显著性差异(P0.05),携带GG基因型的PNS患者的24h尿蛋白水平较AG和AA基因型明显减少(P均0.05)。携带AA基因型患者血清TNF-α水平较AG和GG基因型明显升高(P均0.05)。病理结果显示:AA基因型在微小病变型肾病患者中有较高的出现频率,与GG+AG基因型比较有显著性差异(P0.05)。GG基因型和G等位基因的PNS患者治疗有效率明显高于其他基因型(P均0.05)。结论 TNF-α-308A/G基因多态性能影响血清TNF-α水平,可能与微小病变型肾病的发病、较重的蛋白尿及激素疗效相关,但与PNS的发病易感性不相关。     

汉族人群白介素17受体C基因单核苷酸多态性与青少年特发性脊柱侧凸的相关性

【摘要】　目的：探讨白介素17受体C（IL-17RC）基因单核苷酸多态性与中国汉族人群青少年特发性脊柱侧凸（adolescent idiopathic scoliosis,AIS）易感性之间的相关性。方法：收集529例AIS女性患者及512例正常同龄女性青少年的静脉血标本,采用聚合酶链反应－限制性片段长度多态性（PCR-RFLP）方法鉴定和统计两组人群IL-17RC基因rs708567和rs279545多态性位点的基因型及等位基因分布频率;比较两组间不同多态性位点各基因型及等位基因分布频率的差异。结果：研究Power值（81%）大于80%,AIS患者组及正常对照组各多态性位点的基因型分布均符合Hardy-Weinberg遗传平衡定律。AIS组rs708567多态性位点GG基因型和G等位基因的分布频率显著高于对照组GG基因型（90.17% vs. 85.55%,P=0.023）和G等位基因（95.1% vs. 92.8%,P=0.028）的分布频率;携带GG基因型青少年中AIS的发病率约为携带AG基因型青少年的1.5倍（OR值=1.55;95% CI:1.45~3.11）。rs279545多态性位点各基因型及等位基因的分布频率在两组间均无统计学差异。结论：中国汉族人群中IL-17RC基因单核苷酸多态性与AIS的发生相关。     

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。     

无精子症患者中MTHFR C677T、A1298C及MTRR A66G基因多态性分析

目的 探讨亚甲基四氢叶酸还原酶(MTHFR) C677T、A1298C及蛋氨酸合成酶还原酶(MTRR) A66G基因多态性在男性无精子症患者中的分布情况。方法 选取于2020年1月至2023年8月就诊于新疆佳音医院不孕不育门诊的97名无精子症患者,所有患者进行睾丸组织活检并基因测序MTHFR C677T、A1298C及MTRR A66G基因的多态性。按照手术中是否找到精子将患者分为有精子组(n=70)和无精子组(n=27),比较两组患者的基本资料以及MTHFR C677T、A1298C及MTRR A66G基因型多态性的频率及等位基因频率分布。结果 两组患者间年龄、体质量指数(BMI)以及是否伴随精索静脉曲张的差异均无统计学意义(P>0.05)。MTHFR C677T包括CC、CT、TT三个基因型及C、T两个等位基因,A1298C包括AA、AC、CC三个基因型及A、C等位基因;MTRR A66G包括AA、AG、GG三个基因型,A、G两个等位基因。有精子组和无精子组患者的MTHFR基因677位点TT基因型频率分别为18.6%、18.5%,T等位基因频率分别为42.1%、40.7%;M...     

2型糖尿病肾病患者p22phox基因多态性的研究

目的研究NADPH氧化酶p22phox亚基基因多态性与中国上海汉族人群2型糖尿病肾病（DN）相关性。方法应用限制性片断长度多态性（RFLP）-PCR方法对105例健康对照组和194例2型糖尿病（DM）患者（其中71例DN）进行p22phox亚基C242T、A640G基因型检测。同时检测其身高、体重、血压、血脂、空腹血糖及胰岛素、HbAlc的水平。结果DN组CT＋TT基因型频率明显高于2型DM和对照组（26．76％比17．07％、3．81％，P=0．0002）；DN组T等位基因频率明显高于2型DM和对照组（22．54％比13．42％、2．86％，P=0．0001）；3组间AA基因型频率与A等位基因频率差异无统计学意义。多元回归分析显示，T242等位基因、收缩压、空腹血糖、HbAlc、β细胞功能指数（Homa-IS）是DN的危险因素。结论p22phox亚基T242等位基因变异可能是中国上海地区汉族人群DN的易感基因：而p22phox亚基A640G基因多态性与上述人群DN无相关性。T242等位基因、收缩压、空腹血糖、HbAlc、Homa-IS是DN的危险因素。     

瘢痕疙瘩发病风险与Fas基因-670位点多态性

目的：研究Fas基因-670位点多态性与瘢痕疙瘩发病风险的关系。方法：采用聚合酶链反应-反向点杂交、DNA直接测序方法，检测了75例瘢痕疙瘩患者与120名正常对照的Fas基因-670多态性位点的基因型。结果：瘢痕疙瘩患者的A等位基因频率明显高于正常对照组（x^2=4．408，P=0．036）。瘢痕疙瘩患者的A／G、G／G基因型频率与正常对照组相比差异无统计学意义（χ^2值分别为1．051和1．134；P值分别为0．305和0．287），而瘢痕疙瘩患者的A／A基因型频率明显高于对照组（χ^2=5．207，P=0．022）。提示A／A基因型者患瘢痕疙瘩的风险性明显高于A／G、G／G基因型者（OR=2．122，95％CI：1．105～4．077）。结论：Fas基因-670多态性位点的基因型检测可能对判断瘢痕疙瘩高危个体具有指导意义。     

中国汉族人群TGFBR2基因rs6785358、rs764522多态性与风湿性心脏病的关联研究

目的探讨中国汉族人群转化生长因子Ⅱ型受体(transforming growth factor-βreceptor typeⅡ,TGFBR2)基因rs6785358、rs764522位点多态性与风湿性心脏病(rheumatic heart disease,RHD)的关系。方法采用病例对照设计,选择2008年10月至2011年1月在南京医科大学附属南京第一医院住院的风湿性心脏病患者207例作为风湿性心脏病组(风心病组)及性别年龄匹配的健康成人225例作为对照组。采用聚合酶链反应-限制性片段多态性(PCR-RFLP)方法检测两组TGFBR2基因rs6785358、rs764522位点的多态性。结果风心病组和对照组TGFBR2基因rs6785358位点AA、AG、GG基因型频率分别为72.0%、25.1%、2.9%和68.9%、28.0%、3.1%,两组比较差异无统计学意义(χ2=0.50,P=0.78);A和G等位基因频率分别为84.5%、15.5%和82.9%、17.1%,两组比较差异无统计学意义(χ2=0.43,P=0.51)。风心病组和对照组rs764522位点CC、CG、GG基因型频率分别为77.3%、21.3%、1.4%和75.6%、21.3%、3.1%,两组比较差异无统计学意义(χ2=1.33,P=0.51);C和G等位基因频率分别为87.9%、12.1%和86.2%、13.8%,两组比较差异无统计学意义(χ2=0.55,P=0.46)。经性别分层后,rs6785358和rs764522的基因型和等位基因频率在风心病组和对照组中的分布差异仍无统计学意义(P0.05)。结论中国汉族人群TGFBR2基因rs6785358、rs764522位点多态性与风湿性心脏病无明显关联。     

人端粒保护蛋白1基因单核苷酸多态性与胃癌的关系

目的 探讨人端粒保护蛋白1基因(hPOT1)IVS13-98G/T位点单核苷酸多态性与胃癌的关系.方法 收集2005年12月至2006年7月甘肃省武威肿瘤医院、武威市人民医院、武威市凉州区医院168例胃癌患者(胃癌组)和156例健康受试者(对照组)的血液标本,采用聚合酶链反应和限制性片段长度多态性技术行基因型分析,比较各基因型分布频率与胃癌发病风险的关系.采用X~2检验比较胃癌组和对照组hPOT1IVS13-98G/T位点的基因型分布和等位基因频率,用Hardy-weinberg平衡检验基因型和等位基因频率分布是否具有群体代表性.相对危险度和95%CI以非条件Logistic回归模型计算.结果 胃癌组hPOT1IVS13-98G/T位点GG、GT、TT型的频率分别为21.4%、41.7%、36.9%,G、T等位基因的频率分别为42.3%、57.7%;对照组GG、GT、TT型的频率分别为24.4%、51.9%、23.7%,G、T等位基因频率分别为49.7%和50.3%.两组G、T等位基因型频率比较差异无统计学意义(X~2=3.58,P>0.05).以TT型作为参照基因型,GT和GG两种基因型相对危险度分别为0.439(95%CI:0.251～0.767,P<0.05)、0.514(95%CI:0.264～0.999,P=0.05).hPOT1IVS13-98G/T位点各基因型与性别、吸烟及肿瘤家族史对胃癌发病没有影响.结论 hPOT1IVS13-98G/T位点的CT和GG型可能与胃癌的易感性降低有关,hPOT1IVS13-98G/T位点单核苷酸多态性可能为胃癌的保护因素.     

Effects of the interaction between lean tissue mass and estrogen receptor alpha gene polymorphism on bone mineral density in middle-aged and elderly Japanese

Because both genetic and environmental factors influence bone mass, it is important to examine the effect of gene-environment interactions on bone mineral density (BMD) for the prevention of osteoporosis at an individual level. Estrogen receptor alpha (ER alpha) plays an important role in increasing BMD via mechanical strain and muscle mass is a reflection of the forces the muscle applies to the bone. The aim of this study is to investigate the effect of the interaction between lean tissue mass (LTM) and the ER alpha polymorphisms T-->C (PvuII) [dbSNP: rs2234693] and A-->G (XbaI) [dbSNP: rs9340799] on BMD in middle-aged and elderly individuals. Subjects were 2209 community-dwelling Japanese men and women, ages 40 to 79 years. ER alpha polymorphisms in the first intron, T-->C and A-->G were identified and lumbar spine and femoral neck BMD and LTM were measured by dual-energy X-ray absorptiometry. Both T-->C and A-->G polymorphisms were divided into two genotype groups (TT vs. TC/CC; AA vs. AG/GG). In postmenopausal women, the effect of LTM on femoral neck BMD was significantly larger for those with the TC/CC genotype than for those with the TT genotype for the T-->C polymorphism, and larger for those with the AG/GG genotype than for those with the AA genotype for the A-->G polymorphism. This gene-LTM interaction was observed at the femoral neck, but not at the lumbar spine. For men and premenopausal women, no gene-LTM interaction was found. In conclusion, there was an interaction between LTM and the ER alpha T-->C and A-->G polymorphisms with respect to their effect on femoral neck BMD in postmenopausal women and those with the TC/CC and AG/GG genotypes had larger effects of LTM than those with TT and AA genotypes.     

IL-10基因启动子区G-1082A及C-592A多态性与IgA肾病相关性研究

目的：探讨IL-10基因启动子区域G-1082A、C-592A多态性与汉族人群IgA肾病（IgAN）发病间关系。方法：用SSP-PCR方法对180例IgA肾病（IgAN）患者和163例健康对照组IL-10基因启动子区域-1082、-592位点单核苷酸多态性进行分析。结果：-1082位点IgA肾病患者AG/GG基因型频率显著高于正常对照组（为21.0% vs 11.7%,P〈0.05）;-1082位点G等位基因频率显著高于正常对照组（为11.0% vs 6.4%,P〈0.01）;携带有G等位基因者患IgA肾病危险性是携带有A等位基因者1.8倍,95%CI为1.12-3.20。-592位点IgA肾病患者AA、CA、CC基因型与正常对照组相比,无统计学差异（11.11% vs 16.56%;46.67% vs 51.53%;42.22% vs 31.90%,P〉0.05）;-592位点C等位基因频率与正常对照组相比,无统计学差异（32.21% vs 32.50%,P〉0.05）。结论：IL-10基因G-1082A是中国汉族人群IgA肾病患者的易感基因,携带G等位基因者患IgA肾病的危险性是携带A等位基因者的1.8倍。     

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.     

湖北汉族人群先天性巨结肠症内皮素受体B基因多态性与突变的研究

目的：研究中国湖北汉族人群内皮素受体-B(EDNRB)基因的多态性与散发性先天性巨结肠症发病的关系。 方法：收集104例散发性先天性巨结肠症患儿(病例组)及其中42例(子代组)的双亲(双亲组)血样， 120例正常儿童作对照(对照组)。 PCR-SSCP与DNA测序确定并比较EDNRB基因外显子4的突变与多态性位点(SNPs)等位基因与基因型分布差异，分析sHD表型与SNPs的关联，传递不平衡检验(TDT)分析3样本家系SNPs的传递不平衡。结果：EDNRB基因外显子4，检测到c831 G→A(L277L)多态性位点，未发现突变;病例组c831 G→A位点的等位基因A频率(68%∶53%)和纯合子AA基因型频率(49%∶30%)均明显高于对照组(P<0.01);病例组等位基因A频率明显高于双亲组(68%∶54%,P<0.01);短段型(SSA)患者等位基因A频率明显高于长段型(LSA)患者(76%∶63%,P<0.05);TDT检验未发现亲子代间在c831 G→A(L277L)位点存在传递不平衡。结论： 中国湖北汉族人群EDNRB多态性与散发性先天性巨结肠症发病关系密切，尤其与短段型表型 关系密切。     

Association of receptor activator of nuclear factor-kappaB ligand (RANKL) gene polymorphisms with the susceptibility to ankylosing spondylitis: a case–control study

Objectives

To investigate the association between receptor activator of nuclear factor-kappaB ligand (RANKL) gene polymorphisms and the susceptibility to ankylosing spondylitis (AS) in a Chinese Han population.

Methods

Three hundred and fifty-two AS patients and 299 age- and gender-matched controls were recruited in this study. Peripheral blood samples were collected from all the subjects and the genomic DNA was then extracted. Three single nucleotide polymorphisms (SNPs) of the RANKL gene (rs2277438, rs7984870 and rs9533156) were genotyped using the TaqMan assay. The frequencies of alleles and genotypes were compared between AS patients and normal controls.

Results

The distributions of genotype frequencies in rs2277438 were significantly different between AS patients and normal controls (P < 0.05). The frequency of G allele of SNP rs2277438 in AS patients was significantly higher than that in normal controls (P < 0.05). The frequencies of genotypes with G allele (GG and AG) were significantly higher in AS patients when compared with normal controls (OR = 1.573, 95 % CI 1.151–2.150, P < 0.05). Neither the genotype frequencies nor the allele frequencies of rs7984870 and rs9533156 were found to be significantly different between AS patients and normal controls (P > 0.05).

Conclusions

The current study demonstrated that SNP rs2277438 of the RANKL gene was associated with the susceptibility of AS in a Chinese Han population. Genotypes with G allele (GG and AG) were identified as the risk factors for the occurrence of AS.     

Genetic polymorphisms predisposing to hyperhomocysteinemia in cardiac transplant patients

Genetic determinants for high homocysteine (Hcy) levels are now well known. We studied several single nucleotide polymorphisms (SNP) in Hcy-regulating genes [methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C; methionine synthase (MS) A2756G; methionine synthase reductase (MTRR) A66G] in relation to total plasma Hcy levels, transplant coronary artery disease and thromboembolic episodes in 84 heart transplant patients, and we compared the incidence of these polymorphisms with those in a healthy adult controls. At least one copy of the G allele of the MTRR A66G SNP was found in a significantly greater proportion of cardiac transplant (CTX) recipients compared with controls (94.0% vs. 79.9% respectively). None of the SNP analyzed were correlated with total Hcy plasma levels or the presence of transplant coronary artery disease. However, MS A2756G was significantly associated with cobalamin levels (AA genotype: 290 +/- 122 pmol/l; AG: 381 +/- 151 pmol/l and GG: 415 +/- 100 pmol/l), as was MTRR A66G (AA: 478 +/- 219 pmol/l, AG: 306 +/- 124 pmol/l and GG: 306 +/- 123 pmol/l). MTRR A66G was also correlated with serum folate. No association was found with thromboembolic events. In conclusion, there was a significant difference in the frequency of the G allele genotype of the MTRR A66G in CTX patients versus controls. Differences in cobalamin and folate levels with the MTRR A66G and MS A2756G polymorphisms were noted. Thus, SNP in Hcy-regulating genes may be important determinants of vitamin metabolism in CTX, raising the question of increased vitamin requirements to minimize increased plasma Hcy in this high-risk group.     

Genetic variations in soluble epoxide hydrolase and graft function in kidney transplantation

BACKGROUND: Epoxyeicosatrienoic acids (EETs) are endothelium-derived hyperpolarizing factors that contribute renal protective actions. The aim of this study was to identify the association between genetic variations in soluble epoxide hydrolase (EPHX2, EET-metabolizing enzyme) and kidney allograft dysfunction. MATERIALS AND METHODS: Data from 204 kidney transplant donor-recipient pairs were examined for polymorphisms of exon 8 (R287Q, rs751141 G/A) and 3' untranslated region (3' UTR, rs1042032 A/G) of the EPHX2 gene and correlated with clinical data. RESULTS: The mean duration of follow-up for recipients was 58 +/- 45.3 months who were 39 +/- 11.8 years old at the time of operation and displayed estimated glomerular filtration rate (eGFR) of 68 +/- 16.5 mL/min/1.73 m2 at 1 month after transplantation. AA, AG, and GG genotype frequencies in 3' UTR were 28%, 55%, and 16%, respectively. Twenty-one recipients experienced allograft dysfunction with eGFR <30 mL/min/1.73 m2; 10 had AA genotype of rs1042032 polymorphism (chi-square test; A/A vs A/G+G/G; P = .04). Recipients without rs1042032 polymorphism variant allele showed a significant risk for allograft dysfunction (A/A vs A/G+G/G; P = .04; odds ratio, 2.65; 95% confidence interval [CI], 1.03-6.81). Multivariate analysis of the characteristics of patients using a Cox proportional hazard model showed that the AA genotype of rs1042032 polymorphism was predictive of allograft dysfunction (Hazard Ratio = 3.26; P = .04; 95% CI, 1.08-9.59). CONCLUSION: The present study suggested that the presence of the rs1042032 variant allele in EPHX2 was associated with a protective role for allograft function.     

儿茶酚-O-甲基转移酶基因多态性在新疆伊犁地区人群中的分布及与食管鳞癌的关系

目的 探讨儿茶酚-O-甲基转移酶(COMT)基因Vall58Met多态性在新疆伊犁地区人群中的分布及与食管鳞癌(ESCC)的关系.方法 研究对象共487例,包括169例ESCC,318例正常对照.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方法(PCR-RFLP)分析COMT基因G/A(Val/Met)多态性.结果 487例新疆伊犁地区受试者COMT基因型频率分布依次为GG型50.7%,GA型41.1%,AA型8.2%;等位基因G为71.3%,A为28.7%;分层分析显示,新疆伊犁地区年龄≤60岁的ESCC组与对照组之间差异有统计学意义(P＜0.05);将年龄及性别校正后,ESCC组与对照组COMT Vall58Met多态性于哈族、汉族差异均无统计学意义(P＞0.05).结论 COMT基因Vall58Met多态性可能不是新疆伊犁地区哈萨克族、汉族ESCC危险性的遗传标志.

Abstract：

Objective To explore the distribution of Vall58Met polymorphism in catechol-O-methyltransferase (COMT) gene and its genetic susceptibility for esophageal squamous cell carcinoma (ESCC) of Yili population. Methods A case-control study was designed with 487 samples from 169 ESCC patients and 318 controls. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) approaches. Results The frequencies of COMT Vall58Met polymorphism GG,GA and AA genotype were 50. 7% , 41. 1% and 8. 2% in all subjects, and the frequencies of allele were 71. 3% (G), 28. 7% (A). Stratified analysis by less than 60 years old showed that there were statistically significant differences in both frequencies of COMT Vall58Met polymorphism and allele between controls and ESCC group in Yili Prefecture, Xinjiang (P＜0. 05). After adjusting age and gender, there was no difference in Vall58Met polymorphism in Kazakh and Han ethnics between ESCC group and control group (P＞0. 05). Conclusion There was no association of genetic polymorphisms in the COMT Vall58Met with risk of ESCC of Kazakh and Han ethnics of Yili Prefecture, Xinjiang.