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Large-scale evaluation of candidate genes identifies associations between VEGF polymorphisms and bladder cancer risk
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García-Closas M Malats N Real FX Yeager M Welch R Silverman D Kogevinas M Dosemeci M Figueroa J Chatterjee N Tardón A Serra C Carrato A García-Closas R Murta-Nascimento C Rothman N Chanock SJ 《PLoS genetics》2007,3(2):e29
Common genetic variation could alter the risk for developing bladder cancer. We conducted a large-scale evaluation of single nucleotide polymorphisms (SNPs) in candidate genes for cancer to identify common variants that influence bladder cancer risk. An Illumina GoldenGate assay was used to genotype 1,433 SNPs within or near 386 genes in 1,086 cases and 1,033 controls in Spain. The most significant finding was in the 5′ UTR of VEGF (rs25648, p for likelihood ratio test, 2 degrees of freedom = 1 × 10−5). To further investigate the region, we analyzed 29 additional SNPs in VEGF, selected to saturate the promoter and 5′ UTR and to tag common genetic variation in this gene. Three additional SNPs in the promoter region (rs833052, rs1109324, and rs1547651) were associated with increased risk for bladder cancer: odds ratio (95% confidence interval): 2.52 (1.06–5.97), 2.74 (1.26–5.98), and 3.02 (1.36–6.63), respectively; and a polymorphism in intron 2 (rs3024994) was associated with reduced risk: 0.65 (0.46–0.91). Two of the promoter SNPs and the intron 2 SNP showed linkage disequilibrium with rs25648. Haplotype analyses revealed three blocks of linkage disequilibrium with significant associations for two blocks including the promoter and 5′ UTR (global p = 0.02 and 0.009, respectively). These findings are biologically plausible since VEGF is critical in angiogenesis, which is important for tumor growth, its elevated expression in bladder tumors correlates with tumor progression, and specific 5′ UTR haplotypes have been shown to influence promoter activity. Associations between bladder cancer risk and other genes in this report were not robust based on false discovery rate calculations. In conclusion, this large-scale evaluation of candidate cancer genes has identified common genetic variants in the regulatory regions of VEGF that could be associated with bladder cancer risk. 相似文献
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O. G. Silkova O. B. Dobrovolskaya N. I. Dubovets I. G. Adonina L. A. Kravtsova A. I. Shchapova V. K. Shumny 《Russian Journal of Genetics》2007,43(8):957-960
The study presents a continuation of the research aimed at producing of wheat-rye substitution lines (2n = 42) based on the cross (Triticum aestivum L. × Secale sereale L.) × Triticum aestivum L., and using winter rye cultivars Vyatka and Vietnamskaya Mestnaya. In BC 1 F 5 two lines were identified, having karyotypes in which a pair of homologous wheat chromosomes was substituted by a homeologous pair of rye chromosomes. The chromosome composition of these lines was analyzed using C-banding, GISH, and SSR markers. It was demonstrated that karyotype of each line included a single pair of rye chromosomes and lacked wheat-rye translocations. The rye chromosomes were identified, and the chromosomes of wheat, at which the substitutions occurred, were determined. The lines generated by crosses with rye of Vyatka and Vietnamskaya Mestnaya cultivars were designated 1Rv(1A) and 5Rviet(5A), respectively. Chromosome identification and classification of the lines makes it possible to use them in breeding programs and genetic studies. 相似文献
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The structural organization and evolution of two tandemly repeated families, Spelt1 and Spelt52, located in the subtelomeric regions of Aegilops speltoides chromosomes were studied. The Spelt1 family of sequences with a monomer length of 178 bp was characterized by cloning and sequence analysis of polymerase chain reaction (PCR) products. Members of the Spelt1 family revealed sequence similarities exceeding 95\%. This conservation has remained despite divergence of species in Aegilops section Sitopsis and after independent multiple amplification events in the genome of Ae. speltoides. Sequences representing the Spelt52 family were cloned, sequenced and compared with other sequences in databases. The Spelt52 repeat family contains monomers of two types, Spelt52.1 and Spelt52.2. The two monomers share a homologous stretch of 280 bp and have two regions without sequence similarity of 96 bp and 110 bp, respectively. PCR analysis was conducted to 15 lines in Ae. speltoidesTausch., Ae. longissimaSchw.&Mushc.,Ae. sharonensisEig.,Ae. bicornis(Forssk)Jaub.&Sp., andAe. searsii Feld.&Kis. using primers to the homologous and non- homologous regions of Spelt52 family. Intraspecies and interspecies differences in the occurrence and abundance of combinations of Spelt52.1 and Spelt52.2 monomers were detected. The use of primers to telomeric and subtelomeric repeats followed by Southern hybridization, cloning, and sequence analysis demonstrated that Spelt1 and Spelt52 are localized close to each other and to telomeric repeats. The efficiency of a PCR approach for the analysis of telomeric/subtelomeric junction regions of chromosomes is discussed. 相似文献
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The character of chromosome pairing in meiocytes was studied in F1 wheat-rye Triticum aestivum L. x Secale cereale L. (ABDR, 4x = 28) hybrids with three types of chromosome behavior: reductional, equational, and equational + reductional. A high variation of the frequencies of bivalents and ring univalents was observed in meiocytes with the reductional or equational + reductional type of chromosome behavior. The type of chromosome division was found to affect the bivalent and ring univalent frequencies. Chromosome pairing occurred in 10.28% of meiocytes with the reductional chromosome behavior, 0.93% of meiocytes with the equational chromosome behavior, and 10.81% of meiocytes with the equational + reductional chromosome behavior. On average, 0.13 bivalents per cell formed in meiocytes of the hybrid population. C-banding and genomic in situ hybridization (GISH) showed that both rye and wheat chromosomes produced ring univalents. The role of the Ph genes in regulating the bivalent formation in meiocytes with different types of chromosome behavior is discussed. 相似文献
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I. G. Adonina N. V. Petrash E. M. Timonova Yu. A. Khristov E. A. Salina 《Russian Journal of Genetics》2012,48(4):404-409
Genotyping was performed for the leaf rust-resistant line 73/00i (Triticum aestivum × Aegilops speltoides). Fluorescence in situ hybridization (FISH) with probes Spelt1 and pSc119.2 in combination with microsatellite analysis were used to determine the
locations and sizes of the Ae. speltoides genetic fragments integrated into the line genome. Translocations were identified in the long arms of chromosomes 5B and
6B and in the short arm of chromosome 1B. The Spelt1 and pSc119.2 molecular cytological markers made it possible to rapidly
establish lines with single translocation in the long arms of chromosomes 5B and 6B. The line carrying the T5BS · 5BL-5SL
translocation was highly resistant to leaf rust, and the lines carrying the T6BS · 6BL-6SL translocation displayed moderate
resistance. The translocations differed in chromosomal location from known leaf resistance genes transferred into common wheat
from Ae. speltoides. Hence, it was assumed that new genes were introduced into the common wheat genome from Ae. speltoides. The locus that determined high resistance to leaf rust and was transferred into the common wheat genome from the long arm
of Ae. speltoides chromosome 5S by the T5BS · 5BL-5SL translocation was preliminarily designated as LrAsp5. 相似文献
7.
Maternal Metabolic Health Parameters During Pregnancy in Relation to Early Childhood BMI Trajectories
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The synthetic allotetraploid Aegilops sharonensis x Ae. umbellulata (genomic formula S(sh)U) was used to study inheritance and expression of 45S rDNA during early stages of allopolyploid formation. Using silver staining, we revealed suppression of the NORs (nucleolar organizing regions) from the S(sh) genome in response to polyploidization. Most allopolyploid plants of the S(2)-S(4) generations retained the chromosomal location of 45S rDNA typical for the parental species, except for two S(3) plants in which a deletion of the rDNA locus on one of the homologous 6S(sh) chromosomes was revealed. In addition, we found a decrease in NOR signal intensity on both 6S(sh) chromosomes in a portion of the S(3) and S(4) allopolyploid plants. As Southern hybridization showed, the allopolyploid plants demonstrated additive inheritance of parental rDNA units together with contraction of copy number of some rDNA families inherited from Ae. sharonensis. Also, we identified a new variant of amplified rDNA unit with MspAI1 restriction sites characteristic of Ae. umbellulata. These genetic alterations in the allopolyploid were associated with comparative hypomethylation of the promoter region within the Ae. umbellulata-derived rDNA units. The fast uniparental elimination of rDNA observed in the synthetic allopolyploid agrees well with patterns observed previously in natural wheat allotetraploids. 相似文献
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Abstract: Many articulated brachiopods experience marked life habit variations during ontogeny because they experience their fluid environment at successively higher Reynolds numbers, and they can change the configuration of their inhalant and exhalant flows as body size increases. We show that the extant brachiopod Terebratalia transversa undergoes a substantial ontogenetic change in reorientation governed by rotation around the pedicle. T. transversa′s reorientation angle (maximum ability to rotate on the pedicle) decreases during ontogeny, from 180 degrees in juveniles to 10–20 degrees in individuals exceeding 5 mm, to complete cessation of rotation in individuals larger than 10 mm. Rotation ability is substantially reduced after T. transversa achieves the adult lophophore configuration and preferred orientation with respect to ambient water currents at a length of 2.5–5 mm. We hypothesize that the rotation angle of T. transversa is determined mainly by the position of ventral and dorsal points of attachment of dorsal pedicle muscles relative to the pedicle. T. transversa shows a close correlation between the ontogenetic change in reorientation angle and ontogeny of morphological traits that are related to points of attachment of dorsal pedicle muscles, although other morphological features can also limit rotation in the adult stage. The major morphological change in cardinalia shape and the observed reduction of rotation affect individuals 2.5–10 mm in length. The position of ventral insertions of dorsal pedicle muscles remains constant, but contraction of dorsal pedicle muscles is functionally handicapped because dorsal insertions shift away from the valve midline, rise above the dorsal valve floor, and become limited by a wide cardinal process early in ontogeny (<5 mm). The rate of increase of cardinal process width and of distance between dorsal pedicle muscle scars substantially decreases in the subadult stage (5–10 mm), and most of the cardinalia shell traits grow nearly isometrically in the adult stage (>10 mm). T. transversa attains smaller shell length in crevices than on exposed substrates. The proportion of small‐sized individuals and population density is lower on exposed substrates than in crevices, indicating higher juvenile mortality on substrates prone to grazing and physical disturbance. The loss of reorientation ability can be a consequence of morphological changes that strengthen substrate attachment and maximize protection against biotic or physical disturbance (1) by minimizing torques around the pedicle axis and/or (2) by shifting energy investments into attachment strength at the expense of the cost involved in reorientation. 相似文献
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Lucas A Salas Cristina M Villanueva Salman M Tajuddin André F S Amaral Agustín F Fernandez Lee E Moore Alfredo Carrato Adonina Tardón Consol Serra Reina García-Closas Xavier Basaga?a Nathaniel Rothman Debra T Silverman Kenneth P Cantor Manolis Kogevinas Francisco X Real Mario F Fraga Núria Malats 《Epigenetics》2014,9(11):1532-1539
DNA methylation changes contribute to bladder carcinogenesis. Trihalomethanes (THM), a class of disinfection by-products, are associated with increased urothelial bladder cancer (UBC) risk. THM exposure in animal models produces DNA hypomethylation. We evaluated the relationship of LINE-1 5-methylcytosine levels (LINE-1%5mC) as outcome of long-term THM exposure among controls and as an effect modifier in the association between THM exposure and UBC risk. We used a case-control study of UBC conducted in Spain. We obtained personal lifetime residential THM levels and measured LINE-1%5mC by pyrosequencing in granulocyte DNA from blood samples in 548 incident cases and 559 hospital controls. Two LINE-1%5mC clusters (above and below 64%) were identified through unsupervised hierarchical cluster analysis. The association between THM levels and LINE-1%5mC was evaluated with β regression analyses and logistic regression was used to estimate odds ratios (OR) adjusting for covariables. LINE-1%5mC change between percentiles 75th and 25th of THM levels was 1.8% (95% confidence interval (CI): 0.1, 3.4%) among controls. THM levels above vs. below the median (26 μg/L) were associated with increased UBC risk, OR = 1.86 (95% CI: 1.25, 2.75), overall and among subjects with low levels of LINE-1%5mC (n = 975), OR = 2.14 (95% CI: 1.39, 3.30), but not associated with UBC risk among subjects’ high levels of LINE-1%5mC (n = 162), interaction P = 0.03. Results suggest a positive association between LINE-1%5mC and THM levels among controls, and LINE-1%5mC status may modify the association between UBC risk and THM exposure. Because reverse causation and chance cannot be ruled out, confirmation studies are warranted. 相似文献