International journal of molecular epidemiology and genetics最新文献_第10页

Biomarkers measured in buccal and blood leukocyte DNA as proxies for colon tissue global methylation. 在口腔和血液白细胞 DNA 中测量生物标记物，作为结肠组织全局甲基化的替代物。

International journal of molecular epidemiology and genetics Pub Date : 2014-05-29 eCollection Date: 2014-01-01

Janet E Ashbury, Sherryl A Taylor, M Yat Tse, Stephen C Pang, Jacob A Louw, Stephen J Vanner, Will D King

{"title":"Biomarkers measured in buccal and blood leukocyte DNA as proxies for colon tissue global methylation.","authors":"Janet E Ashbury, Sherryl A Taylor, M Yat Tse, Stephen C Pang, Jacob A Louw, Stephen J Vanner, Will D King","doi":"","DOIUrl":"","url":null,"abstract":"There is increasing interest in clarifying the role of global DNA methylation levels in colorectal cancer (CRC) etiology. Most commonly, in epidemiologic studies, methylation is measured in DNA derived from blood leukocytes as a proxy measure of methylation changes in colon tissue. However, little is known about the correlations between global methylation levels in DNA derived from colon tissue and more accessible tissues such as blood or buccal cells. This cross-sectional study utilized DNA samples from a screening colonoscopy population to determine to what extent LINE-1 methylation levels (as a proxy for genome-wide methylation) in non-target tissue (e.g., blood, buccal cells) reflected methylation patterns of colon mucosal tissue directly at risk of developing CRC. The strongest Pearson correlation was observed between LINE-1 methylation levels in buccal and blood leukocyte DNA (r = 0.50; N = 67), with weaker correlations for comparisons between blood and colon tissue (r = 0.36; N = 280), and buccal and colon tissue (r = 0.27; N = 72). These findings of weak/moderate correlations have important implications for interpreting and planning future investigations of epigenetic markers and CRC risk. ","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":"5 2","pages":"120-4"},"PeriodicalIF":0.0,"publicationDate":"2014-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065400/pdf/ijmeg0005-0120.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32448222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Sex hormone pathway gene polymorphisms are associated with risk of advanced hepatitis C-related liver disease in males. 性激素通路基因多态性与男性晚期丙型肝炎相关肝脏疾病的风险相关

International journal of molecular epidemiology and genetics Pub Date : 2014-05-01 DOI: 10.1016/S0016-5085(14)63524-1

D. White, Yanhong Liu, Jose M Garcia, H. El‐Serag, L. Jiao, S. Tsavachidis, L. M. Franco, Ju-Seog Lee, S. Tavakoli-Tabasi, D. Moore, R. Goldman, Jill Kuzniarek, D. Ramsey, F. Kanwal, M. Marcelli

引用次数: 20

Gene expression in thiazide diuretic or statin users in relation to incident type 2 diabetes. 噻嗪类利尿剂或他汀类药物使用者的基因表达与 2 型糖尿病发病率的关系。

International journal of molecular epidemiology and genetics Pub Date : 2014-02-17 eCollection Date: 2014-01-01

Astrid Suchy-Dicey, Susan R Heckbert, Nicholas L Smith, Barbara McKnight, Jerome I Rotter, Yd Ida Chen, Bruce M Psaty, Daniel A Enquobahrie

{"title":"Gene expression in thiazide diuretic or statin users in relation to incident type 2 diabetes.","authors":"Astrid Suchy-Dicey, Susan R Heckbert, Nicholas L Smith, Barbara McKnight, Jerome I Rotter, Yd Ida Chen, Bruce M Psaty, Daniel A Enquobahrie","doi":"","DOIUrl":"","url":null,"abstract":"Thiazide diuretics and statins are used to improve cardiovascular outcomes, but may also cause type 2 diabetes (T2DM), although mechanisms are unknown. Gene expression studies may facilitate understanding of these associations. Participants from ongoing population-based studies were sampled for these longitudinal studies of peripheral blood microarray gene expression, and followed to incident diabetes. All sampled subjects were statin or thiazide users. Those who developed diabetes during follow-up comprised cases (44 thiazide users; 19 statin users), and were matched to drug-using controls who did not develop diabetes on several factors. Supervised normalization, surrogate variable analyses removed technical bias and confounding. Differentially-expressed genes were those with a false discovery rate Q-value<0.05. Among thiazide users, diabetes cases had significantly different expression of CCL14 (down-regulated 6%, Q-value=0.0257), compared with controls. Among statin users, diabetes cases had marginal but insignificantly different expression of ZNF532 (up-regulated 15%, Q-value=0.0584), CXORF21 (up-regulated 11%, Q-value=0.0584), and ZNHIT3 (up-regulated 19%, Q-value=0.0959), compared with controls. These genes comprise potential targets for future expression or mechanistic research on medication-related diabetes development. ","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":"5 1","pages":"22-30"},"PeriodicalIF":0.0,"publicationDate":"2014-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939004/pdf/ijmeg0005-0022.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40285037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Ethnic characterization of a population of children exposed to high doses of arsenic via drinking water and a possible correlation with metabolic processes. 通过饮用水接触高剂量砷的儿童群体的种族特征及其与代谢过程的可能相关性。

International journal of molecular epidemiology and genetics Pub Date : 2014-02-17 eCollection Date: 2014-01-01

Cecilia Bobillo, Julio A Navoni, Valentina Olmos, Luciano J Merini, Edda Villaamil Lepori, Daniel Corach

{"title":"Ethnic characterization of a population of children exposed to high doses of arsenic via drinking water and a possible correlation with metabolic processes.","authors":"Cecilia Bobillo, Julio A Navoni, Valentina Olmos, Luciano J Merini, Edda Villaamil Lepori, Daniel Corach","doi":"","DOIUrl":"","url":null,"abstract":"Because the ratio between the two major arsenic metabolites is related to the adverse health effects of arsenic, numerous studies have been performed to establish a relationship between the ability to metabolically detoxify arsenic and other variables, including exposure level, gender, age and ethnicity. Because ethnicity may play a key role and provide relevant information for heterogeneous populations, we characterized a group of 70 children from rural schools in the Argentinean provinces of Chaco and Santiago del Estero who were exposed to high levels of arsenic. We used genetic markers for maternal, paternal and bi-parental ancestry to achieve this goal. Our results demonstrate that the Amerindian maternal linages are present in 100% of the samples, whereas the Amerindian component transmitted through the paternal line is less than 10%. Informative markers for autosomal ancestry show a predominantly European ancestry, in which 37% of the samples contained between 90 and 99% European ancestry. The native American component ranged from 50 to 80% in 15.7% of the samples, and in all but four samples, the African component was less than 10%. Correlation analysis demonstrated that the ethnicity and the ratio of the excreted arsenic metabolites monomethyl arsenic and dimethyl arsenic are not associated, dismissing a relationship between ethnic origin and differential metabolism. ","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":"5 1","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2014-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939002/pdf/ijmeg0005-0001.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40285035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Strategies for genetic study of hearing loss in the Brazilian northeastern region. 巴西东北地区听力损失遗传研究策略。

International journal of molecular epidemiology and genetics Pub Date : 2014-02-17 eCollection Date: 2014-01-01

Uirá S Melo, Silvana Santos, Hannalice G Cavalcanti, Wagner T Andrade, Vitor G Dantas, Marine Rd Rosa, Regina C Mingroni-Netto

{"title":"Strategies for genetic study of hearing loss in the Brazilian northeastern region.","authors":"Uirá S Melo, Silvana Santos, Hannalice G Cavalcanti, Wagner T Andrade, Vitor G Dantas, Marine Rd Rosa, Regina C Mingroni-Netto","doi":"","DOIUrl":"","url":null,"abstract":"The overall aim of this study was to estimate the contribution of genetic factors to the etiology of hearing loss (HL) in two counties in the Brazilian northeastern region. A cross-sectional study, based on the key informant approach (KI) was conducted in Queimadas and Gado Bravo counties (Paraíba, Northeast Brazil). The sample consisted of 182 patients with HL. Genetic screening of the most frequent mutations associated with HL was performed for all samples. DFNB1 mutations were the most frequently found in both counties. The c.35delG mutation was detected in homozygosis in seven non-syndromic probands in Queimadas (7/76, 9.2%) and only a single homozygote with this mutation was found in Gado Bravo (1/44, 2.3%). We also detected the del(GJB6-D13S1854) mutation in non-syndromic probands from Gado Bravo (2/44, 4.5%). The c.189C>A (p.TyrY63*) mutation in the CLRN1 gene was detected in homozygosis in 21/23 Usher syndrome patients from Gado Bravo and it was not found in Queimadas. Cases with probable genetic etiology contributed approximately to half of HL probands in each county (54.6% in Gado Bravo and 45.7% in Queimadas). We confirm the importance of DFNB1 locus to non-syndromic HL but we show that the frequency of mutations in the northeastern region differs somewhat from those reported in southeastern Brazil and other populations. In addition, the extremely high frequency of individuals with Usher syndrome with c.189C>A variation in CLRN1 indicates the need for a specific screening of this mutation. ","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":"5 1","pages":"11-21"},"PeriodicalIF":0.0,"publicationDate":"2014-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939003/pdf/ijmeg0005-0011.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40285036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic screening for AZF Y chromosome microdeletions in Jordanian azoospermic infertile men. 约旦无精子不育男性AZF Y染色体微缺失的遗传筛查。

International journal of molecular epidemiology and genetics Pub Date : 2014-02-17 eCollection Date: 2014-01-01

Omar F Khabour, Abdulfattah S Fararjeh, Almuthana A Alfaouri

引用次数: 0

Intrafamilial spread of hepatitis B virus: some comments. 乙型肝炎病毒的家族内传播:一些看法。

International journal of molecular epidemiology and genetics Pub Date : 2014-02-17 eCollection Date: 2014-01-01

Ali Kabir, Mehrdad Moghimi, Afshin Amini

引用次数: 0

Genetic variants and non-genetic factors predict circulating vitamin D levels in Hispanic and non-Hispanic White women: the Breast Cancer Health Disparities Study. 遗传变异和非遗传因素预测西班牙裔和非西班牙裔白人妇女循环维生素D水平:乳腺癌健康差异研究。

International journal of molecular epidemiology and genetics Pub Date : 2014-02-17 eCollection Date: 2014-01-01

Wei Wang, Sue Ann Ingles, Gabriela Torres-Mejía, Mariana C Stern, Frank Z Stanczyk, Gary G Schwartz, David O Nelson, Laura Fejerman, Roger K Wolff, Martha L Slattery, Esther M John

{"title":"Genetic variants and non-genetic factors predict circulating vitamin D levels in Hispanic and non-Hispanic White women: the Breast Cancer Health Disparities Study.","authors":"Wei Wang, Sue Ann Ingles, Gabriela Torres-Mejía, Mariana C Stern, Frank Z Stanczyk, Gary G Schwartz, David O Nelson, Laura Fejerman, Roger K Wolff, Martha L Slattery, Esther M John","doi":"","DOIUrl":"","url":null,"abstract":"Genome-wide association studies (GWAS) have identified common polymorphisms in or near GC, CYP2R1, CYP24A1, and NADSYN1/DHCR7 genes to be associated with circulating levels of 25-hydroxyvitamin D [25(OH)D] in European populations. To replicate these GWAS findings, we examined six selected polymorphisms from these regions and their relation with circulating 25(OH)D levels in 1,605 Hispanic women (629 U.S. Hispanics and 976 Mexicans) and 354 non-Hispanic White (NHW) women. We also assessed the potential interactions between these variants and known non-genetic predictors of 25(OH)D levels, including body mass index (BMI), sunlight exposure and vitamin D intake from diet and supplements. The minor alleles of the two GC polymorphisms (rs7041 and rs2282679) were significantly associated with lower 25(OH)D levels in both Hispanic and NHW women. The CYP2R1 polymorphism, rs2060793, also was significantly associated with 25(OH)D levels in both groups. We found no significant associations for the polymorphisms in the CYP24A1. In Hispanic controls, 25(OH)D levels were significantly associated with the rs12785878T and rs1790349G haplotype in the NADSYN1/DHCR7 region. Significant interactions between GC rs2282679 and BMI and between rs12785878 and time spent in outdoor activities were observed. These results provide further support for the contribution of common genetic variants to individual variability in circulating 25(OH)D levels. The observed interactions between SNPs and non-genetic factors warrant confirmation. ","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":"5 1","pages":"31-46"},"PeriodicalIF":0.0,"publicationDate":"2014-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939005/pdf/ijmeg0005-0031.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40285038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Fine mapping of variants associated with endometriosis in the WNT4 region on chromosome 1p36. 1p36染色体WNT4区域与子宫内膜异位症相关变异的精细定位

International journal of molecular epidemiology and genetics Pub Date : 2013-11-28 eCollection Date: 2013-01-01

Hien Tt Luong, Jodie N Painter, Konstantin Shakhbazov, Brett Chapman, Anjali K Henders, Joseph E Powell, Dale R Nyholt, Grant W Montgomery

{"title":"Fine mapping of variants associated with endometriosis in the WNT4 region on chromosome 1p36.","authors":"Hien Tt Luong, Jodie N Painter, Konstantin Shakhbazov, Brett Chapman, Anjali K Henders, Joseph E Powell, Dale R Nyholt, Grant W Montgomery","doi":"","DOIUrl":"","url":null,"abstract":"Genome-wide association studies show strong evidence of association with endometriosis for markers on chromosome 1p36 spanning the potential candidate genes WNT4, CDC42 and LINC00339. WNT4 is involved in development of the uterus, and the expression of CDC42 and LINC00339 are altered in women with endometriosis. We conducted fine mapping to examine the role of coding variants in WNT4 and CDC42 and determine the key SNPs with strongest evidence of association in this region. We identified rare coding variants in WNT4 and CDC42 present only in endometriosis cases. The frequencies were low and cannot account for the common signal associated with increased risk of endometriosis. Genotypes for five common SNPs in the region of chromosome 1p36 show stronger association signals when compared with rs7521902 reported in published genome scans. Of these, three SNPs rs12404660, rs3820282, and rs55938609 were located in DNA sequences with potential functional roles including overlap with transcription factor binding sites for FOXA1, FOXA2, ESR1, and ESR2. Functional studies will be required to identify the gene or genes implicated in endometriosis risk. ","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":"4 4","pages":"193-206"},"PeriodicalIF":0.0,"publicationDate":"2013-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852639/pdf/ijmeg0004-0193.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31938177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Epidermal growth factor receptor (EGFR) polymorphisms and breast cancer among Hispanic and non-Hispanic white women: the Breast Cancer Health Disparities Study. 表皮生长因子受体(EGFR)多态性与西班牙裔和非西班牙裔白人女性乳腺癌:乳腺癌健康差异研究

International journal of molecular epidemiology and genetics Pub Date : 2013-11-28 eCollection Date: 2013-01-01

Avonne E Connor, Richard N Baumgartner, Kathy B Baumgartner, Christina M Pinkston, Esther M John, Gabriela Torres-Mejía, Lisa M Hines, Anna R Giuliano, Roger K Wolff, Martha L Slattery

{"title":"Epidermal growth factor receptor (EGFR) polymorphisms and breast cancer among Hispanic and non-Hispanic white women: the Breast Cancer Health Disparities Study.","authors":"Avonne E Connor, Richard N Baumgartner, Kathy B Baumgartner, Christina M Pinkston, Esther M John, Gabriela Torres-Mejía, Lisa M Hines, Anna R Giuliano, Roger K Wolff, Martha L Slattery","doi":"","DOIUrl":"","url":null,"abstract":"The epidermal growth factor receptor (EGFR), a member of the ErbB family of receptor tyrosine kinases, functions in cellular processes essential to the development of cancer. Overexpression of EGFR in primary breast tumors has been linked with poor prognosis. We investigated the associations between 34 EGFR tagging SNPs and breast cancer risk and breast cancer-specific mortality in 4,703 Hispanic and 3,030 non-Hispanic white women from the Breast Cancer Health Disparities Study. We evaluated associations with risk of breast cancer defined by estrogen/progesterone receptor (ER/PR) tumor phenotype. Only one association remained statistically significant after adjusting for multiple comparisons. Rs2075112GA/AA was associated with reduced risk for ER-/PR+ tumor phenotype (odds ratio (OR), 0.34; 95% confidence interval (CI) 0.18-0.63, p adj=0.01). All additional results were significant prior to adjustment for multiple comparisons. Two of the EGFR polymorphisms were associated with breast cancer risk in the overall study population (rs11770531TT: OR, 0.56, 95% CI 0.37-0.84; and rs2293348AA: OR, 1.20, 95% CI 1.04-1.38) and two polymorphisms were associated with risk among Hispanics: rs6954351AA: OR, 2.50, 95% CI 1.32-4.76; and rs845558GA/AA: OR, 1.15, 95% CI 1.01-1.30. With regard to breast cancer-specific mortality, we found positive associations with rs6978771TT hazard ratio (HR), 1.68; 95% CI 1.11-2.56; rs9642391CC HR, 1.64; 95% CI 1.04-2.58; rs4947979AG/GG HR, 1.36; 95% CI 1.03-1.79; and rs845552GG HR, 1.62; 95% CI 1.05-2.49. Our findings provide additional insight for the role of EGFR in breast cancer development and prognosis. Further research is needed to elucidate EGFR's contribution to ethnic disparities in breast cancer. ","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":"4 4","pages":"235-49"},"PeriodicalIF":0.0,"publicationDate":"2013-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852643/pdf/ijmeg0004-0235.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31939215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0