Association of single nucleotide polymorphisms of CDH13 gene with metabolic syndrome among ethnic Han ChineseCSCD

Objective: To assessthe association of single nucleotide polymorphisms (SNPs) of the T-cadherin (CDH13) gene with metabolic syndrome (MS) among ethnic Han Chinese. Methods: Genotypes of 6 SNPs(rsll646213, rsl2596316, rs3865188, rsl2444338, rsl2051272, and rs7195409) of the CDH13 gene among 453 patients with MS and 526 controls were determined with a TaqMan method, and their association with MS was assessed. Results: For 5 SNPs (rsll646213, rs3865188, rsl2444338, rsl2051272, and rs7195409), no difference was found in allelic and genotypic frequencies of the CDH13 gene between the two groups. Comparing with rsl2596316 (AA+GG) genotype, rsl2596316 AG genotype has significantly increased the risk of MS(P = 0.01, OR=1.38, 95%CI: 1.07-1.78), though no association was found between particular alleles of the rsl2596316 with MS. There was no difference in the frequencies of rsll646213-rsl2596316-rs3865188-rsl2444338-rsl2051272 haplotype between the two groups(P>0.05). Conclusion: No association was found between the five SNPs (rsll646213, rs3865188, rsl2444338, rsl2051272 and rs7195409) of the CDH13 gene with the MS, while the rsl2596316AG genotype of the CDH13 gene is associated with the susceptibility to MS among ethnic Han Chinese. © 2018 West China University of Medical Sciences. All rights reserved.     

中国汉族群体中PDCD1基因多态性与结直肠癌的相关性CSCD

目的探讨程序性细胞死亡受体1（ programmed cell death 1,PDCD1）基因多态性与结直肠癌的发生发展的关联性。方法应用聚合酶链反应-限制性片段长度多态性（PCR-restriction fragment length polymorphism, PCR-RFLP）方法对426例结直肠癌患者及500名正常个体的rs36084323、rs11568821、rs2227981、rs2227982和rs10204525位点进行多态性分析。结果rs36084323位点G等位基因在显性遗传模型下与TNM分期进展期结直肠癌的发生正关联（OR＝1.59,95%CI：1.02～2.48）。rs36084323、rs11568821、rs2227981、rs2227982和rs10204525位点组成的单倍型G-G-C-T-A和A-G-C-C-G与结直肠癌的发生负关联。结论PDCD1基因rs36084323位点AG和GG基因型与TNM分期进展期的结直肠癌存在正关联。而G-G-C-T-A和A-G-C-C-G单倍型与结直肠癌的发生负关联。     

Association of coagulation factor V gene polymorphism with unexplained recurrent spontaneous abortion among ethnic Hans from Wenzhou areaCSCD

Objective: To assess the association of coagulation factor V gene polymorphisms with unexplained recurrent spontaneous abortion (URSA) among ethnic Han Chinese from Wenzhou area. Methods: Ninety-six patients with URSA and 103 females with a history of normal pregnancy were recruited. Genotypes of coagulation factor V gene were determined through target sequence capture and high-throughput sequencing. The results were confirmed with a MassARRAY system. Allelic and genotypic frequencies between the two groups were compared. Results: Nineteen single nucleotide polymorphism (SNPs), except coagulation factor V Leiden, were identified in the two groups. The frequencies of rs9287090 allele A, rsl046712 allele T and rsl800594 allele G of the URSA group were lower than those of the control group (6. 77% to. 16.50%, 3.12% to. 13.11%, 10.94% to. 18.45%, respectively). After Bonferroni and false discovery rate correction, rs9287090 and rsl046712 were significantly associated with URSA (corrected P<0. 05). Although genotypic distribution of rs9287090 and rsl046712 also differed between the two groups, the corrected P value showed no significance (corrected P>0. 05). A complete linkage disequilibrium (r 2 = l, D' = l) of rs6022 and rs6029 was observed for the haplotype block rs6022-rs6029-rs6028. The frequencies of rs6022 allele A and rs6029 allele T were higher in the URSA group with corrected insignificance (75. 00% vs. 65. 53%, corrected P >0. 05). Furthermore, significantly more A-T-T haplotype was found in the URSA group (75. 00% vs. 65. 50%, OP = 1. 578, 95%C7:1. 021-2. 438, X 2 =4. 248, P<0. 05). Conclusion: The decreased rate of rs9287090 allele A, rsl046712 allele T, and rsl800594 allele G may contribute to the susceptibility to URSA among ethnic Han Chinese from Wenzhou area. The rs6022 allele A and rs6029 allele T may also predispose to URSA. © 2018 MeDitorial Ltd. All rights reserved.     

和基因多态性与朝鲜族原发性高血压的相关性研究CSCD

目的探讨Na-Cl协同转运蛋白基因SLC12A3 rs11643718位点和上皮细胞钠通道基因SCNN1B rs12447134位点的多态性与朝鲜族原发性高血压的相关性。方法对204例原发性高血压患者和186名健康对照进行研究,运用改进的多重连接酶检测反应(improved multiplex ligation detection reaction,iMLDR)技术检测rs11643718、rs12447134位点的多态性。结果患者组和对照组在SLC12A3rs11643718位点的基因型和等位基因频率差异有统计学意义(P值均< 0.05),且与收缩压相关(P<0.01,隐性模型);SCNN1B rs12447134位点的基因型与等位基因频率在两组间的差异无统计学意义(P值均> 0.05),但与舒张压存在相关性(P<0.05,隐性模型)。结论 SLC12A3基因rs11643718位点的多态性与中国朝鲜族人群原发性高血压易感性相关,可作为预测发病的分子标记物。     

Interethnic genetic differentiation: HLA class I antigens in the population of Mongolia

A total of 1668 individuals representing 10 major Mongolian ethnic groups were serologically typed for HLA-A, -B, and -C antigens. Antigens A2, A24, B61, B51, B58, Cw3, Cw7, and Cw6 were the most frequent specificities in Mongolians and no case of B42 was noted in all ethnic groups. The cluster analysis of Principal Components I and II shows that Mongolian speaking groups form one cluster vs Turkic-speaking Kazakhs. The analysis reveals a low, but significant differentiation of Mongolian ethnic groups as measured by F_ST = 0.0100 (P < 0.001). Gene diversity analysis shows that the genetic diversity of the Mongolian population can be attributed largely to its ethnic component, which makes up 64% of total genetic variation. The low degree of interpopulation variation and high level of intrapopulation diversity can be explained by the nomadic way of life of this indigenous population. Three-locus haplotypes A24-B61-Cw3, A33-B58-Cw3 are the most common haplotypic associations in Mongolians. The presence of antigens characteristic of Mongoloid, Caucasoid, and Negroid populations in Mongolians suggests a unique genetic background of this indigenous population. The three-locus haplotype distribution among Mongolians relative to other world populations supports the migration of ancient people from Central Asia to the New World, Korean Peninsula, and Southeast Asia. Am. J. Hum. Biol. 11:603–618, 1999. © 1999 Wiley-Liss, Inc.     

血管内皮生长因子基因多态性与克罗恩病的相关性CSCD

目的探讨血管内皮生长因子（vascular endothelial growth factor,VEGF）基因多态性与克罗恩病（Crohn’S disease,CD）易感性的关系。方法收集275例CD患者和495名性别、年龄相匹配的健康对照者,采用SNaPshot技术检测VEGF基因rs699947和rs3025039位点的等位基因和基因型频率。结果CD组与对照组之间整体比较,VEGF基因rs699947和rs3025039位点的变异等位基因和基因型频率差异无统计学意义（P均〉o．05）。分层分析发现,结肠型CD患者中rs699947的变异等位基因（A）和基因型（CA＋AA）频率显著高于对照组（P=0．006,95％CI：1．143～2．234;P=0．005,95％CI：1．203～2．900）。与对照组相比,回肠受累（回肠末段型＋回结肠型）的CD患者中,rs699947的变异等位基因（A）和基因型（CA4-AA）频率偏低（P=0．033,95％CI：0．524～0．974;P=0．043,95％CI：0．481～0．989）。此外,非狭窄非穿透型CD患者中rs3025039纯合子变异基因型（TT）频率低于对照组（0．62％vs．4．85％,P=0．036,95％CI：0．016～O．870）。结论VEGF基因rs699947位点基因变异可能增加结肠型CD的发病风险,但在回肠受累的CD患者中可能发挥保护作用。VEGF基因rs3025039位点的纯合子变异基因型（TT）携带者中非狭窄非穿透型CD的发病风险可能降低。     

HLA class I polymorphism in Mongolian and Hui ethnic groups from Northern China

HLA-A, -B, and -C alleles were genotyped by sequencing-based typing (SBT) in 102 unrelated ethnic Mongolian individuals living in Inner Mongolia and 110 Hui individuals inhabiting the Qihai plateau in Northern China. In all, 28 HLA-A, 49 HLA-B, and 27 HLA-C alleles in Mongolians and 29 HLA-A, 41 HLA-B, and 27 HLA-C alleles in Hui were detected in this study. A*24G1, A*110101/1121N and A*02G1 are the three most frequent HLA-A alleles both in Mongolians and Hui. At the HLA-B locus, only B*51G1 was found with a frequency of more than 10% in Hui. Cw*070201G1 is the most common HLA-C allele both in Mongolian and Hui. The most frequent HLA-A:C:B, HLA-A:C, and HLA-C:B haplotypes are A*330301-Cw*030201/030202-B*5801, A*330301-Cw*030201/030202, and Cw*030201/030202-B*5801 in Mongolian and A*0207/0215N-Cw*010201/010202-B*4601, A*02G1-Cw*070201G1, and Cw*010201/010202-B*4601 in Hui, respectively. The genetic distance (GD) estimated according to HLA-A, -B, and -C allele frequency indicates that Mongolian and Hui have the closest relationship, and both are closer to Northern Han rather than Southern Han, suggesting that the two ethnicities might have been subjected to intensive gene exchange with Northern Han in history. The dendrogram based on the GD measurements further demonstrates that Mongolian and Hui cluster as a branch with Northern Han Chinese and Northeast Asians. Our results may lead to better understanding of the origins and relationships of Chinese ethnic groups and provide the genetic background for disease association studies.     

The Association between the Polymorphisms in a Sodium Channel Gene SCN7A and Essential Hypertension: A Case‐Control Study in the Northern Han Chinese

Na_x, an α‐subunit of the sodium channel encoded by the SCN7A gene, has been deemed to be a sensor of the concentration of sodium in the brain and may be involved in salt intake behavior. We inferred that Na_x/SCN7A may participate in the regulation of blood pressure and the pathogenesis of essential hypertension (EH). The present case‐control study involving 615 hypertensives and 617 normotensives was performed to investigate the association between SCN7A polymorphisms and EH in the Northern Han Chinese population. The three common single nucleotide polymorphisms (SNPs) (rs3791251, rs6738031, rs7565062) in the exons of SCN7A were genotyped with the TaqMan assay. Significant association between SNP rs7565062 and EH was found under the addictive and dominant genetic models (P = 0.024, OR = 1.283, 95%CI [1.033–1.592]; P = 0.013, OR = 1.203, 95%CI [1.040–1.392]; respectively). The three SNPs were in close pair‐wise linkage disequilibrium with each other and the haplotype analyses indicated that haplotype G–A–T was significantly associated with increased risk of EH (P = 0.023, OR = 1.290). In conclusion, our data showed that SNP rs7565062 of SCN7A was significantly associated with EH and the allele T of rs7565062 or the related haplotype G–A–T will be a genetic risk factor for EH in the Northern Han Chinese population.     

CDKAL1基因rs7754860位点G<C多态性与2型糖尿病易感关系的Meta分析*◆

背景：遗传学研究显示2型糖尿病可能存在遗传易感性,但研究结论存在一定的差异。 目的：探讨CDKAL1(细胞周期素依赖激酶5调节亚单位相关蛋白1类似物1)基因rs7754860位点G相似文献   

Human leukocyte antigen-DRB1*1501 and DQB1*0602 alleles are cervical cancer protective factors among Uighur and Han people in Xinjiang,China

Human papillomavirus (HPV) infection is a major risk factor for cervical cancer. However, only some high risk human papillomavirus (HR-HPV)-infected women progress to cervical cancer, host immunogenetic factors human leukocyte antigen (HLA) may account for viral antigens presenting individually or together in the progression to cervical cancer. This study examined the association between the development of invasive cervical cancer (ICC) and the determinant factors including HLA-DRB1*1501 and DQB1*0602, HR-HPV infection among Chinese Uighur and Han populations. Blood samples, cervical swabs and biopsies were obtained from 287 patients with ICC (192 Uighurs and 95 Hans) and 312 healthy controls (218 Uighurs and 94 Hans). HPV DNA was detected by PCR and HLA-DRB1*1501 and DQB1*0602 alleles were performed using PCR-SSP method. HPV16 infection rates was significantly higher among Uighur and Han with ICC as compared to healthy controls (OR = 58.317; 95% CI: 39.663-85.744; OR = 33.778; 95% CI: 12.581-90.691; P < 0.05 for all). HLA-DRB1*1501 (OR = 0.305; 95% CI: 0.115-0.813; P < 0.05) and HLA-DRB1*1501-DQB1*0602 haplotype frequencies (OR = 0.274; 95% CI: 0.086-0.874; P < 0.05) were significantly reduced in Han ICC. The HLA-DQB1*0602 frequency significantly decreased among Uighur women with ICC (OR = 0.482; 95% CI: 0.325-0.716; P < 0.05). Similar tendencies were observed for DQB1*0602 with HPV16-positive ICC (OR = 0.550; 95% CI: 0.362-0.837; P < 0.05). This study suggests that HLA-DRB1*1501 and DQB1*0602 alleles may influence the immune response to HPV16 infection and decrease the risk of ICC among Uighurs and Hans in Xinjiang, China.     

直接前入路与后外侧入路全髋关节置换临床疗效的Meta分析

目的 比较经直接前入路(DAA)与后外侧入路(PLA)行全髋关节置换手术的临床疗效。方法 在中国知网数据库、万方数据库、PubMed数据库、Cochrane数据库,以“全髋关节置换”“直接前入路”“后外侧入路”和“direct anterolateral approach”“posterolateral approach”“total hip arthroplasty”为关键词,计算机检索2010年1月—2018年4月国内外已发表关于经DAA与PLA行全髋关节置换术的病例对照研究或随机对照试验的中英文文献,严格评价文献质量,并提取相关数据,运用RevMan 5.3软件对手术时间、术中出血量、住院时间、术后疼痛VAS、术后髋关节功能Harris评分(HHS),以及并发骨折、感染、脱位情况进行Meta分析。结果 纳入14项研究共6 341例患者,其中经DAA手术3 282例,经PLA手术3 059例。3项随机对照试验Cochrane偏倚风险评估均为低风险,11项病例对照研究NOS评分,高质量10项、较高质量1项。Meta分析结果显示,经DAA较PLA 平均手术时间长(WMD=17.26, 95%CI 7.22～27.30, P＜0.05 ),平均术中出血量多(WMD=113.50, 95%CI-1.13～228.14, P=0.05),平均住院时间短(WMD=-0.56, 95%CI -0.94～-0.17, P＜0.05),术后疼痛VAS低(WMD=2.01, 95%CI 0.74～3.28, P＜0.05),术后髋关节功能恢复好(WMD=2.01, 95%CI 0.74～3.28, P＜0.05),差异均有统计学意义;而术后并发骨折(OR=1.25, 95%CI 0.88～1.77, P＞0.05)、感染(OR=0.77, 95%CI 0.21～2.79, P＞0.05)、髋关节脱位(OR=0.68, 95%CI 0.40～1.18, P＞0.05),经DAA和PLA比较差异均无统计学意义。结论 经DAA与PLA行全髋关节置换术均能获得基本满意的临床效果,经DAA手术平均住院时间短,术后疼痛轻,髋关节功能恢复较好;而经PLA手术时间短,术中出血量少。     

WNK4基因C1155547T多态与新疆哈萨克族原发性高血压的关系

目的 探讨WNK4基因第7外显子C1155547T变异是否与中国新疆哈萨克族人群原发性高血压相关,及该变异与环境之间交互作用对高血压病的影响.方法 应用Taqman探针技术检测556例哈萨克族原发性高血压病患者和341名血压正常者的WNK4基因C1155547T位点多态性.采用多元Logistic回归法分析该基因变异和其他危险因素对高血压的作用;运用相加模型研究WNK4基因C1155547T变异与环境之间交互作用对高血压病发病的影响.结果 C1155547T位点多态性的分布符合Hardy-Weinberg平衡.C1155547T多态位点基因型频率差异有统计学意义(P=0.003),T等基因频率在高血压组中显著高于正常对照组(P=0.002).多元Logistic回归模型分析发现年龄、体重指数、总胆固醇及C1155547T变异可能是高血压的危险因素.C1155547T变异与性别之间交互作用的OR值为3.85(95%CI:1.23～12.04);与体重指数之间交互作用的OR值为5.91(95%CI:1.99～17.57);与空腹血糖之间交互作用的OR值为8.77(95%CI:1.04～73.93).结论 WNK4基因C1155547T多态与原发性高血压发病可能相关,T等位基因可能是该民族原发性高血压发生的危险因子.WNK4基因C1155547T变异与性别、体重指数、空腹血糖之间对高血压病具有正相加交互作用.     

Ethnicity‐Based Differences in the Association of LOXL1 Polymorphisms with Pseudoexfoliation/Pseudoexfoliative Glaucoma: A Meta‐Analysis

Pseudoexfoliation (PEX) is an age‐related disorder of the extracellular matrix; it is strongly associated with glaucoma, the leading cause of irreversible blindness worldwide. We conducted an ethnic‐based meta‐analysis of the association of LOXL1 polymorphisms with PEX/pseudoexfoliative glaucoma (PEXG). Association studies were retrieved systematically from PubMed, EMBASE, and Web of Knowledge. Allelic and genotype frequencies of rs3825942, rs1048661, and rs2165241 were compared between PEX/PEXG and controls. Odds ratios (OR) and 95% confidence intervals (CI) were calculated using a random effects model. Overall, 39 independent cohorts were included. Rs3825942 (G) was an at risk allele for PEX/PEXG in Caucasians, Japanese, Koreans, Chinese, South Asians, and Middle Easterners, but protective in Black South Africans (OR = 0.10, 95%CI:0.06–0.16). Rs1048661 (G) was an at risk allele for PEX/PEXG in Caucasians, South Asians, Middle Easterners and Black South Africans, but was protective in Japanese (OR = 0.03, 95%CI:0.02–0.06) and Koreans (OR = 0.10, 95%CI:0.05–0.22). These associations we‐re confirmed for the genotypic recessive models. Rs2165241 (C) was a protective allele for PEX/PEXG in Caucasians, but was an at risk allele in Japanese (OR = 7.49, 95%CI:3.22–17.41) and Koreans (OR = 6.63, 95%CI:2.60–16.90). This was confirmed for the genotypic dominant model. Other genetic and/or environmental factors may modify the effect of LOXL1 polymorphisms in certain ethnic groups.     

阿昌族与汉族维生素D受体基因FokⅠ多态性

目的 了解维生素D受体基因多态性在中国不同民族中的分布。方法 应用聚合酶链反应一限制性片段长度多态性分析、基因测序等技术检测68名阿昌族人和92名汉族人的维生素D受体基因Fok Ⅰ多态性，比较两组维生素D受体基因型和等位基因的分布频率。结果在68名阿昌族人中FF基因型占18％、Ff基因型占35％、ff基因型占47％，而在92名汉族人中FF基因型占22％、Ff基因型占52％、ff基因型占26％。两组维生素D受体基因型的分布频率差异有显著性(x^2=7．716，P=0．021)。结论 阿昌族与汉族维生素D受体基因Fok Ⅰ多态性分布频率差异有显著性。     

Prediction of lung cancer risk in a Chinese population using a multifactorial genetic model

Interleukin (IL)-18, an important proinflammatory cytokine, plays a potential pathological role in rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Studies on the relationship of IL-18 gene promoter rs1946518 (−607A/C) polymorphism, rs187238 (−137G/C) polymorphism with RA and SLE are inconclusive. The aim of this study was to get a more precise estimation of the relationship in Asian populations. Meta-analysis was conducted on the associations between the IL-18 (−607A/C and -137G/C) polymorphisms and RA and SLE, using; (1) allele contrast, (2) dominant, and (3) recessive models. A total of 11 studies were included in this study. For the relationship of IL-18 rs1946518 polymorphism with RA (additive model: OR=0.752, 95%CI=0.562-1.006; dominant model: OR=0.730, 95%CI =0.479-1.113; recessive model: OR=0.537, 95%CI=0.271-1.064) and SLE (additive model: OR=0.684, 95%CI=0.455-1.028; dominant model: OR=0.645, 95%CI=0.368-1.130; recessive model: OR=0.672, 95%CI =0.447-1.010), no significant association with RA and SLE risk can be found under all genetic models in Asian populations. However, significant associations were observed in Chinese population for both RA ((OR=0.688, 95%CI =0.532-0.889) and SLE (OR=0.606, 95%CI =0.396-0.930) under additive model. For the relationship between IL-18 rs187238 polymorphism and RA or SLE, there was no significant association detected in all genetic models, even in Chinese population. This meta-analysis indicates that the IL-18-607A/C polymorphism may confer susceptibility to RA and SLE in Chinese population, but not all Asians.     

瘦素受体基因3057位G→A变异与妊娠高血压综合征的关系

目的探讨瘦素受体基因（Leptin receptor gene,LEPR）20外显子3057位核苷酸G→A变异与妊娠高血压综合征（妊高征,PIHs）关系。方法应用PCR-RFLP法检测了106例妊高征患者（妊高征组）和98例正常妊娠孕妇（对照组）LEPR基因3057位核苷酸G→A变异。结果妊高征组LEPR基因型频率分布：GG型为2.8%,GA型为16.1%,AA型为81.1%;妊高征组AA基因型频率和A等位基因频率（81.1%和89.1%）高于对照组孕妇（74.5%和85.2%）,但无统计学意义（P〉0.05）;携带A等位基因和AA基因型的孕妇发生PIHs的相对风险OR值分别为1.43（95%CI：0.79～2.56）和1.72（95%CI：0.28～10.75）（P〉0.05）。结论LEPR基因3057位G→A变异与潍坊地区汉族人群PIHs的发病无明显相关性。     

RET基因调控区遗传变异与先天性巨结肠患病风险研究

目的先天性巨结肠（HSCR）是一种复杂的先天性疾病,RET是其主要的易感性基因。本研究对RET非编码区单核甘酸多态性（SNP）-5G〉A（rs10900296）,-1A〉C（rs10900297）和intron1 C〉T（rs2435357）进行分型分析,评估RET基因调控区SNPs及单倍型与先天性巨结肠之间的相关性。方法选取115名病例组病人和139名对照组正常人群,应用聚合酶链反应（PCR）技术和直接测序的方法进行基因分型。回归模型中使用OR值和95%置信区间（CI）作为基因型危险性的评价指标。结果 -5G〉A,-1A〉C,intron1C〉T各基因型频率在病例和对照人群的分布具有显著差异。-5 AA（OR=6.26,95%CI=3.62-10.83）,-1 CC（OR=7.54,95%CI=2.06-27.66）和intron1 TT（OR=19.22,95% CI=7.54-48.99）基因型均能显著增加HSCR发病的风险。单倍型A-C-T（OR=6.28,95% CI=3.77-10.46）和双体型A-C-T/A-C-T（OR=13.62,95% CI=3.48-53.30）分析同样表明与HSCR发病风险存在较强的相关性,并呈现出一定的累积效应。结论 RET基因调控区的基因多态性可能与HSCR的发病易感性有关,支持RET通路的常见变异在HSCR的发展过程中起着重要的作用的假设。     

CASP3和 CASP9基因多态性与胃癌遗传易感性的关联研究

目的 探讨凋亡相关基因caspase 3 (CASP3)、caspase 9 (CASP9)单核苷酸多态性与胃癌遗传易感性的关系.方法 采用以自然人群为基础的病例对照研究设计,对278例胃癌患者和以同年龄(± 5岁)、同性别、同居住地匹配为原则获得的278名对照进行研究.CASP3 rs12108497和 CASP9 rs4646018多态位点的基因分型采用聚合酶链反应-限制性片段长度多态性的方法分析.非条件Logistic回归分析计算基因多态与胃癌风险的相关性.结果 携带 CASP3 rs12108497 TC、CC基因型者患胃癌的风险较TT基因型者分别增加45%(OR=1.45,95%CI:1.01～2.07)和117% (OR=2.17,95%CI:1.15～4.08).未发现 CASP9 rs4646018基因多态与胃癌发病风险间存在显著关联.多基因模型显示携带1个或2个风险基因型的个体胃癌易感性增高(OR=1.60,95%CI:1.12～2.30).分层分析表明,携带1个或2个风险基因型的个体罹患胃癌的危险度在男性个体(OR=1.62,95%CI:1.05～2.49)、吸烟者(OR=1.87,95%CI:1.12～3.12)、饮酒者(OR=1.92,95%CI:1.02～3.65)和无肿瘤家族史者(OR=1.78,95%CI:1.18～2.68)中尤为明显.结论 CASP3 rs12108497 多态性会增加胃癌的发病风险.CASP9 rs4646018多态性与胃癌发病风险无关.

Abstract：

Objective To investigate the association between the apoptosis genes CASP3 (rs12108497) and CASP9 (rs4646018) polymorphisms and the risk of developing stomach cancer. Methods In this population-based case-control study, 278 cases with stomach cancer and 278 age (±5 years), gender, and residential area matched controls were recruited. The genotypes were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The unconditional Logistic regression analysis was utilized to calculate the odds ratios (OR) and 95% confidence intervals (CI). Results The individuals with TC, CC genotypes of rs12108497 locus had significantly increased risk of stomach cancer in comparison to those carrying TT genotype (OR=1.45, 95% CI: 1.01-2.07 for TC; OR=2.17, 95%CI: 1.15-4.08 for CC). However, the rs4646018 locus of CASP9 gene polymorphism was not related to stomach cancer risk. Compared with the subjects carrying the both low-risk genotypes, those carrying 1 or 2 high-risk genotypes had a noteworthy increased risk of stomach cancer (OR=1.60, 95% CI: 1.12-2.30). The combined high-risk genotypes appeared to be more evident in subjects of male (OR=1.62, 95% CI: 1.05-2.49), ever-smokers (OR=1.87, 95%CI: 1.12-3.12), ever-drinkers (OR=1.92, 95%CI:1.02-3.65) and no family history of cancer (OR=1.78, 95%CI: 1.18-2.68). Conclusion The current findings suggest that the polymorphism of CASP3 rs12108497 might be associated with the risk of stomach cancer. However, the CASP9 rs4646018 polymorphism may not be related to the stomach cancer risk.     

Association of rs12255372 in the TCF7L2 gene with type 2 diabetes mellitus: a meta-analysis

Our objective was to evaluate the association of rs12255372 in the TCF7L2 gene with type 2 diabetes mellitus (T2DM) in the world population. We carried out a survey of the literature about the effect of rs12255372 on genetic susceptibility to T2DM by consulting PubMed, the Cochrane Library, and Embase from 2006 to 2012, and then performed a meta-analysis of all the studies in order to evaluate the association between rs12255372 and T2DM. A total of 33 articles including 42 studies (with 34,076 cases and 36,192 controls) were confirmed to be eligible and were included in the final meta-analysis: 6 studies conducted on Europeans, 14 on Caucasians, 17 on Asians, 2 on Africans, and 3 on Americans. Overall, the effect size was as follows: for the variant allele T (OR = 1.387, 95%CI = 1.351-1.424), for the TT genotype (OR = 1.933, 95%CI = 1.815-2.057), for the GT genotype (OR = 1.363, 95%CI = 1.315-1.413), for the dominant model (OR = 1.425, 95%CI = 1.344-1.510), and for the recessive model (OR = 1.659, 95%CI = 1.563-1.761). In summary, by pooling all available qualified data from genetic studies on rs12255372 and T2DM, we have confirmed that rs12255372 is significantly associated with susceptibility to T2DM in the global population.     

新疆维吾尔族、汉族健康人群血清淀粉样蛋白A1基因多态性分布特征

目的 探讨血清淀粉样蛋白A1(serum amyloid protein A1,SAA1)基因标签单核苷酸多态(tagging single nucleotide polymorphism,tagSNP)rs2229338和rs12218在新疆维吾尔族和汉族健康人群中的分布特征.方法 入选新疆地区维吾尔族(n=316)和汉族(n=362)健康人群,采用限制性片段长度多态性的方法进行基因分型.结果 (1)rs2229338三种基因型在维吾尔族人群中的分布频率分别为:AA型76.6%,AG型23.4%,GG型0;在汉族人群中的分布频率分别为:AA型91.7%,AG型7.7%,GG型0.6%.两组基因型分布差异有统计学意义(P＜0.01);(2)rs12218三种基因型在维吾尔族人群中的分布频率分别为:CC型10.1%,CT型47.5%,TT型42.4%;在汉族人群中的分布频率分别为:CC型3.3%,CT型34.3%,TT型62.4%.两组基因型分布差异有统计学意义(P＜0.01);(3)rs12216和rs2229338共构建4个单倍型,其中A-C和G-T单倍型在维吾族中的分布明显高于汉族(P＜0.01),A-T单倍型在汉族中的分布明显高于维吾尔族(P＜0.01).结论 SAA1基因标签SNP在新疆汉族和维吾尔族健康人群中的分布具有明显的差异,维族人群突变频率可能高于汉族人群.