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Single Polymorphism Nucleotide (SNPs)

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https://www.readbyqxmd.com/read/28447211/paclitaxel-induced-sensory-peripheral-neuropathy-is-associated-with-an-abcb1-single-nucleotide-polymorphism-and-older-age-in-japanese
#1
Yuko Tanabe, Chikako Shimizu, Akinobu Hamada, Kenji Hashimoto, Kazutaka Ikeda, Daisuke Nishizawa, Junko Hasegawa, Akihiko Shimomura, Yukinori Ozaki, Nobuko Tamura, Harukaze Yamamoto, Mayu Yunokawa, Kan Yonemori, Toshimi Takano, Hidetaka Kawabata, Kenji Tamura, Yasuhiro Fujiwara
PURPOSE: Whether age and inter-individual variability of pharmacogenetics are risk factors for paclitaxel-induced peripheral neuropathy (PIPN) is inconclusive. This study was conducted to evaluate the influence of previously investigated single nucleotide polymorphisms (SNPs) and age, using genotype data from a prospective study of paclitaxel-related toxicity in Japanese patients with breast cancer. METHODS: Peripheral blood mononuclear cells from 127 Japanese women with breast cancer who received weekly adjuvant paclitaxel were used to genotypes SLCO1B3 T334G (rs4149117), CYP2C8 A1196G (rs10509681), ABCB1 C1236T (rs1128503), ABCB1 G2677T/A (rs2032582), and ABCB1 C3435T (rs1045642)...
April 26, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28446772/large-scale-snp-screenings-identify-markers-linked-with-gcrv-resistant-traits-through-transcriptomes-of-individuals-and-cell-lines-in-ctenopharyngodon-idella
#2
Zhiwei Liao, Quanyuan Wan, Xueying Shang, Jianguo Su
Grass carp (Ctenopharyngodon idella) is an important economic species in freshwater aquaculture and its industry has been confined due to variety degeneration and frequent diseases. Marker-assisted selection is a feasible method for selective breeding of new varieties. Transcriptome data have greatly facilitated high-throughput single nucleotide polymorphism (SNP) marker discovery and phenotype association study. In this study, we gained a total of 25,981 and 5,775 high quality SNPs in two transcriptomes from individuals and cell lines, respectively...
April 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28446629/vitamin-d-receptor-and-megalin-gene-polymorphisms-are-associated-with-longitudinal-cognitive-change-among-african-american-urban-adults
#3
May A Beydoun, Salman M Tajuddin, Greg A Dore, Jose-Atilio Canas, Hind A Beydoun, Michele K Evans, Alan B Zonderman
Background: The link between longitudinal cognitive change and polymorphisms in the vitamin D receptor (VDR) and MEGALIN [or LDL receptor-related protein 2 (LRP2)] genes remains unclear, particularly among African-American (AA) adults.Objectives: We aimed to evaluate associations of single nucleotide polymorphisms (SNPs) for VDR [rs11568820 (Cdx-2:T/C), rs1544410 (BsmI:G/A), rs7975232 (ApaI:A/C), rs731236 (TaqI:G/A)] and LRP2 [rs3755166:G/A,rs2075252:C/T, rs2228171:C/T] genes with longitudinal cognitive performance change in various domains of cognition...
April 26, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28446149/effect-of-genetic-variants-and-traits-related-to-glucose-metabolism-and-their-interaction-with-obesity-on-breast-and-colorectal-cancer-risk-among-postmenopausal-women
#4
Su Yon Jung, Eric M Sobel, Jeanette C Papp, Zuo-Feng Zhang
BACKGROUND: Impaired glucose metabolism-related genetic variants and traits likely interact with obesity and related lifestyle factors, influencing postmenopausal breast and colorectal cancer (CRC), but their interconnected pathways are not fully understood. By stratifying via obesity and lifestyles, we partitioned the total effect of glucose metabolism genetic variants on cancer risk into two putative mechanisms: 1) indirect (risk-associated glucose metabolism genetic variants mediated by glucose metabolism traits) and 2) direct (risk-associated glucose metabolism genetic variants through pathways other than glucose metabolism traits) effects...
April 26, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28446001/a-post-genome-wide-association-study-validating-the-association-of-the-glycophorin-c-gene-with-serum-hemoglobin-level-in-pig
#5
Yang Liu, Zhengzheng Hu, Chen Yang, Shiwei Wang, Wenwen Wang, Qin Zhang
OBJECTIVE: This study aimed to validate the statistical evidence from the genome-wide association study (GWAS) as true-positive and to better understand the effects of the glycophorin C (GYPC) gene on serum hemoglobin traits. METHODS: Our initial GWAS revealed the presence of two single nucleotide polymorphisms (SNPs) (ASGA0069038 and ALGA0084612) for the hemoglobin concentration trait (HGB) in the 2.48 Mb region of SSC15. From this target region, GYPC was selected as a promising gene that associated with serum HGB traits in pigs...
May 2017: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/28445979/the-impacts-of-single-nucleotide-polymorphisms-in-genes-of-cell-cycle-and-nf-kb-pathways-on-the-efficacy-and-acute-toxicities-of-radiotherapy-in-patients-with-nasopharyngeal-carcinoma
#6
Chengxian Guo, Yuling Huang, Jingjing Yu, Lijuan Liu, Xiaochang Gong, Min Huang, Chunling Jiang, Yulu Liao, Lihua Huang, Guoping Yang, Jingao Li
Radiotherapy is one of the primary choices for the treatment of nasopharyngeal carcinoma (NPC) and may result in severe radiotoxicities on normal tissues. Single nucleotide polymorphisms (SNPs) in genes of cell cycle and NF-κB pathways have been linked with the prognoses of various cancers. The aim of this study was to explore whether SNPs of genes involved in cell cycle and NF-κB pathways are associated with responses to radiotherapy in NPC patients. We selected 3 SNPs in cell cycle pathway and 5 SNPs in NF-κB pathway and genotyped them in 154 NPC patients treated with radiotherapy...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445963/genetic-polymorphisms-of-bcl-2-promoter-in-cancer-susceptibility-and-prognosis-a-meta-analysis
#7
Zhongqiang Yao, Binhui Yang, Zhongqiu Liu, Wei Li, Qihua He, Xingchun Peng
Bcl-2 is critical for tumorigenesis. However, previous studies on the association of Bcl-2 promoter polymorphisms with predisposition to different cancer types are somewhat contradictory. Therefore, we performed this meta-analysis regarding the relationship between Bcl-2 promoter single nucleotide polymorphisms (SNPs) and cancer susceptibility and prognosis. Up to August 2016, 32 original publications were identified covering two Bcl-2 promoter SNPs (rs2279115 and rs1801018). Our results showed statistically significant association between rs2279115 and cancer susceptibility and prognosis in all four genetic models but not in rs1801018...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445942/mmp-3-and-mmp-8-single-nucleotide-polymorphisms-are-related-to-alcohol-induced-osteonecrosis-of-the-femoral-head-in-chinese-males
#8
Junyu Chen, Wanlin Liu, Yuju Cao, Xiyang Zhang, Yongchang Guo, Yong Zhu, Jian Li, Jieli Du, Tianbo Jin, Guoqiang Wang, Jianzhong Wang
Our study investigated the association between MMP-3 and MMP-8 single-nucleotide polymorphisms (SNPs) and alcohol-induced osteonecrosis of the femoral head (ONFH) in 695 Chinese males (299 cases and 396 control subjects). The minor allele of MMP-3 rs650108 was associated with a 0.78-fold decrease in alcohol-induced ONFH risk in the allelic model (95% CI = 0.63-0.97, P = 0.026). In the genetic model adjusted for age, rs650108 was associated with decreased risk of alcohol-induced ONFH in the dominant model (OR = 0...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445878/differential-allelic-expression-of-htr1b-in-suicide-victims-genetic-and-epigenetic-effect-of-the-cis-acting-variants
#9
Ali Bani-Fatemi, Aaron Howe, Clement Zai, James L Kennedy, John Vincent, John Strauss, Albert Wong, Vincenzo De Luca
OBJECTIVES: In the present study, we tested the allelic imbalance of the C861G single nucleotide polymorphism (SNP) of HTR1B in the frontal cortex of suicide victims. METHODS: The study was conducted using 3 sets of samples. First, C861G allele-specific mRNA levels in the frontal cortex were compared between suicide (n = 13) and nonsuicide controls (n = 13) from the Stanley Medical Research postmortem brain collection. Second, we tested common variants in the HTR1B promoter for linkage disequilibrium (LD) with the C861G variant in an unrelated sample of suicide attempters (SA; n = 38) and non-SA (NSA; n = 42)...
April 27, 2017: Neuropsychobiology
https://www.readbyqxmd.com/read/28445866/association-of-genetic-polymorphisms-in-il-1r1-and-il-1r2-genes-with-iga-nephropathy-in-the-han-chinese-population
#10
Maowei Xie, Daofa Zhang, Yin Zhang, Xiaohong Yang, Yan Su, Yanni Wang, Haiyang Huang, Hui Han, Wenning Li, Keying Fu, Huiluan Su, Wentan Xu, Jiali Wei
AIM: IgA nephropathy (IgAN) is the major cause of end-stage renal disease(ESRD) in Asia and its pathogenesis is influenced by both genetic and environmental factors. Single nucleotide polymorphisms (SNPs) in IL1R1 and IL-1R2 may be associated with susceptibility to IgAN. In this study, we study the association between genetic variants of IL-1R1 and IL-1R2 and IgA nephropathy risk in the Chinese Han population. RESULT: In the allelic model analysis, the rs10490571 and rs3917225 were associated with a 1...
April 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445597/taller-height-as-a-risk-factor-for-venous-thromboembolism-a-mendelian-randomization-meta-analysis
#11
N S Roetker, S M Armasu, J S Pankow, P L Lutsey, W Tang, M A Rosenberg, T M Palmer, R F MacLehose, S R Heckbert, M Cushman, M de Andrade, A R Folsom
BACKGROUND: Taller height is associated with greater risk of venous thromboembolism (VTE). OBJECTIVES: We used instrumental variable (IV) techniques (Mendelian randomization) to further explore this relationship METHODS: Participants of European ancestry were included from two cohort studies [Atherosclerosis Risk in Communities (ARIC) study and Cardiovascular Health Study (CHS)] and one case-control study [Mayo Clinic VTE Study (Mayo)]. We created two weighted genetic risk scores (GRS) for height; the full GRS included 668 single nucleotide polymorphisms (SNPs) from a previously published meta-analysis and the restricted GRS included a subset of 362 SNPs not associated with weight independently of height...
April 26, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28445522/revealing-phenotype-associated-functional-differences-by-genome-wide-scan-of-ancient-haplotype-blocks
#12
Ritsuko Onuki, Rui Yamaguchi, Tetsuo Shibuya, Minoru Kanehisa, Susumu Goto
Genome-wide scans for positive selection have become important for genomic medicine, and many studies aim to find genomic regions affected by positive selection that are associated with risk allele variations among populations. Most such studies are designed to detect recent positive selection. However, we hypothesize that ancient positive selection is also important for adaptation to pathogens, and has affected current immune-mediated common diseases. Based on this hypothesis, we developed a novel linkage disequilibrium-based pipeline, which aims to detect regions associated with ancient positive selection across populations from single nucleotide polymorphism (SNP) data...
2017: PloS One
https://www.readbyqxmd.com/read/28445188/tpmt-comt-and-acyp2-genetic-variants-in-paediatric-cancer-patients-with-cisplatin-induced-ototoxicity
#13
Signe Thiesen, Peng Yin, Andrea L Jorgensen, Jieying E Zhang, Valentina Manzo, Laurence McEvoy, Christopher Barton, Susan Picton, Simon Bailey, Penelope Brock, Harish Vyas, David Walker, Guy Makin, Srinivas Bandi, Barry Pizer, Daniel B Hawcutt, Munir Pirmohamed
OBJECTIVES: Cisplatin ototoxicity affects 42-88% of treated children. Catechol-O-methyltransferase (COMT), thiopurine methyltransferase (TPMT) and AYCP2 genetic variants have been associated with ototoxicity, but the findings have been contradictory. The aims of the study were as follows: (a) to investigate these associations in a carefully phenotyped cohort of UK children and (b) to perform a systematic review and meta-analysis. METHODS: We recruited 149 children from seven UK centres using a retrospective cohort study design...
April 25, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28445130/single-nucleotide-polymorphisms-in-mlh1-predict-poor-prognosis-of-hepatocellular-carcinoma-in-a-chinese-population
#14
Xiaonian Zhu, Wei Liu, Xiaoqiang Qiu, Zhigang Wang, Chao Tan, Chunhua Bei, Linyuan Qin, Yuan Ren, Shengkui Tan
Hepatocellular carcinoma (HCC) is a malignant cancer causing deleterious health effect worldwide, especially in China. So far clinical cure rate and long-term survival rate of HCC remains low. Most HCC patients after cancer resection have recurrence or metastasis within 5 years. This study aims to explore the genetic association of mutL homolog 1 (MLH1) polymorphisms with HCC risk and prognosis. Four candidate MLH1 polymorphisms, rs1800734, rs10849, rs3774343 and rs1540354 were studied from a hospital-based case-control study including 1,036 cases (HCC patients) and 1,036 controls (non-HCC patients) in Guangxi, China...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28444966/correlation-between-genetic-polymorphisms-within-the-mapk1-hif-1-ho-1-signaling-pathway-and-risk-or-prognosis-of-perimenopausal-coronary-artery-disease
#15
Nan Guo, Nan Zhang, Liqiu Yan, Xufen Cao, Jiawang Wang, Yunfei Wang
BACKGROUND: Mitogen-activated protein kinase-1 (MAPK1), as well as its downstream factors of hypoxia-inducible factor-1 (HIF-1) and heme oxygenase-1 (HO-1), have been documented to be involved in modulating development of coronary artery disease (CAD). HYPOTHESIS: Genetic mutations within the MAPK1/HIF-1/HO-1 signaling pathway could alter the risk of perimenopausal CAD in Chinese patients. METHODS: Peripheral blood samples were gathered from 589 CAD patients and 860 healthy controls, and 12 potential single-nucleotide polymorphisms (SNPs) were obtained from HapMap database and previously published studies...
April 26, 2017: Clinical Cardiology
https://www.readbyqxmd.com/read/28444748/identification-of-coagulation-gene-3-utr-variants-that-are-potentially-regulated-by-micrornas
#16
Carla Y Vossen, Astrid van Hylckama Vlieg, Raúl Teruel-Montoya, Salam Salloum-Asfar, Hugoline de Haan, Javier Corral, Pieter Reitsma, Bobby P C Koeleman, Constantino Martínez
MicroRNAs have been recognized as critical regulators of gene expression and might affect the risk of venous thrombosis. We aimed to identify 3' untranslated region (UTR) variants in coagulation genes that influence coagulation factor levels and venous thrombosis risk. The 3'UTR of coagulation genes were sequenced in subjects with extremely high or low plasma levels of these factors in two case-control studies. In total, 28 variants were identified. Five single nucleotide polymorphisms (SNPs) were predominantly present in one extreme level group (F2 rs1799963, F8 rs1050705 and F11 rs4253429, rs4253430 and rs1062547)...
April 26, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28444381/evidence-for-very-recent-positive-selection-in-mongolians
#17
Kazuhiro Nakayama, Jun Ohashi, Kazuhisa Watanabe, Lkagvasuren Munkhtulga, Sadahiko Iwamoto
Mongols, the founders of the largest continental empire in history, successfully adapted to the harsh environments of Inner Asia through nomadic pastoralism. Considerable interest exists in ascertaining whether genetic adaptation also contributed to the Mongols' success, and dissecting the genome diversity of present-day populations in Mongolia can help address this question. To this end, we determined the genotypes of nearly 2.4 million single nucleotide polymorphisms (SNPs) of 96 unrelated Mongolian individuals in Ulaanbaatar city, and performed genome-wide scans for population-specific positive selection...
April 21, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28443596/lack-of-association-between-toll-like-receptor-2-polymorphisms-r753q-and-a-16934t-and-atopic-dermatitis-in-children-from-thrace-region-of-turkey
#18
Can Ceren, Mehtap Yazıcıoğlu, Hakan Gürkan, Adnan Görgülü, Necdet Süt
BACKGROUND: Atopic dermatitis (AD) is the most common chronic inflammatory skin disease. A complex interaction of both genetic and environmental factors is thought to contribute to the disease. Recently relations between single nucleotide polymorphisms (SNPs) of toll-like receptors (TLRs) and AD have been reported. AIMS: The aim of the study was to evaluate whether SNPs in the TLR2 gene c.2258C>T (R753Q) (rs5743708) and TLR2 c.-148+1614T>A (A-16934T) (rs4696480) (NM_0032643) are associated with AD in Turkish children...
April 6, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/28443323/prevalence-of-ctr1-and-ercc1-polymorphisms-and-response-of-biliary-tract-cancer-to-gemcitabine-platinum-chemotherapy
#19
Skolchart Pongmaneratanakul, Suebpong Tanasanvimon, Thitima Pengsuparp, Nutthada Areepium
Purpose: Biliary tract cancer (BTC)is an aggressive disease with a poor prognosis. Most patients are diagnosed at an advanced stage for which curative surgery is not possible and gemcitabine-platinum chemotherapy is the treatment of choice for advanced cases. Several studies had focused on biomarkers to predict response from platinum drugs in lung cancer, but information is limited for BTC. In this study, two single nucleotide polymorphisms (SNPs) in the copper transporter (CTR1) and excision repair cross-complementary group 1 (ERCC1) genes were investigated as predictive biomarkers of objective response to gemcitabine-platinum...
March 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28443103/genotyping-by-sequencing-for-snp-based-linkage-analysis-and-identification-of-qtls-linked-to-fruit-quality-traits-in-japanese-plum-prunus-salicina-lindl
#20
Juan A Salazar, Igor Pacheco, Paulina Shinya, Patricio Zapata, Claudia Silva, Mallikarjuna Aradhya, Dianne Velasco, David Ruiz, Pedro Martínez-Gómez, Rodrigo Infante
Marker-assisted selection (MAS) in stone fruit (Prunus species) breeding is currently difficult to achieve due to the polygenic nature of the most relevant agronomic traits linked to fruit quality. Genotyping by sequencing (GBS), however, provides a large quantity of useful data suitable for fine mapping using Single Nucleotide Polymorphisms (SNPs) from a reference genome. In this study, GBS was used to genotype 272 seedlings of three F1 Japanese plum (Prunus salicina Lindl) progenies derived from crossing "98-99" (as a common female parent) with "Angeleno," "September King," and "September Queen" as male parents...
2017: Frontiers in Plant Science
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