Epidermal growth factor receptor gene mutations in patients with lung adenocarcinoma differ by frequency and type between Uighur and Han ethnic groups in Xinjiang Autonomous Region.

Abstract:

BACKGROUND:This study was designed to investigate epidermal growth factor receptor (EGFR) mutation types affecting lung cancer treatment in patients in Xinjiang, China. We detected and analyzed differences in the EGFR mutation points of Uighur and Han patients with lung adenocarcinoma. We examined 181 specimens of lung adenocarcinoma tissue embedded with paraffin (76 Uighur and 105 Han patients) for mutations in the EGFR gene in exon 18-21 by the amplification refractory mutation system (ARMS) method. We used the chi-square statistical method to analyze the relationship between mutations and patients' clinical parameters. RESULTS:EGFR somatic mutations were detected in 59 of 181 cases (32.6%). The mutation rate was higher in Han patients (45.7%) than in Uighur patients (15.8%) (P < 0.001). The main mutation types were the exon 19 deletion and the L858R point mutation in exon 21. In Han patients we found 21 (44.7%) cases of exon 19 deletion, 24 (51.1%) cases of L858R in exon 21, 1 case (2.1%) with mutations in both exon 19 and exon 21, and 1 case (2.1%) with T790 mutation in exon 20. In Uighur patients we found 8 (66.7%) cases of exon 19 deletion and 4 (33.3%) cases of L858R in exon 21. CONCLUSIONS:In comparing these groups, the exon 19 deletion was more common than L858R in exon 21 in Uighur patients. In Han patients, EGFR-sensitive mutations occurred in female, never-smoking patients with well-differentiated tumors; but for Uighur patients only smoking history showed an obvious correlation.

journal_name

BMC Genet

journal_title

BMC genetics

authors

Li X,Wang X,Zhu H,Liu C,Zhou X,Zhao B,Duan H,Yang J,Gu G,Zhan Y,Yuan J,Abuduwaili K,Qionglu S

doi

10.1186/s12863-015-0181-4

subject

Has Abstract

pub_date

2015-02-28 00:00:00

pages

20

issn

1471-2156

pii

10.1186/s12863-015-0181-4

journal_volume

16

pub_type

杂志文章
  • Canine fibroblast growth factor receptor 3 sequence is conserved across dogs of divergent skeletal size.

    abstract:BACKGROUND:Fibroblast growth factor receptor 3 (FGFR3) is expressed in the growth plate of endochondral bones and serves as a negative regulator of linear bone elongation. Activating mutations severely limit bone growth, resulting in dwarfism, while inactivating mutations significantly enhance bone elongation and overa...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-9-67

    authors: Smith LB,Bannasch DL,Young AE,Grossman DI,Belanger JM,Oberbauer AM

    更新日期:2008-10-21 00:00:00

  • Polymorphisms of two loci at the oxytocin receptor gene in populations of Africa, Asia and South Europe.

    abstract:BACKGROUND:The oxytocin (OT) system is known to be implicated in the regulation of complex social behavior, particularly empathy and parenting. The goal of this study was to estimate the gender and population differences in polymorphisms of two oxytocin receptor gene SNPs, rs53576 and rs2254298, in four populations. R...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-015-0323-8

    authors: Butovskaya PR,Lazebny OE,Sukhodolskaya EM,Vasiliev VA,Dronova DA,Fedenok JN,Rosa A,Peletskaya EN,Ryskov AP,Butovskaya ML

    更新日期:2016-01-06 00:00:00

  • A copy number variation in human NCF1 and its pseudogenes.

    abstract:BACKGROUND:Neutrophil cytosolic factor-1 (NCF1) is a component of NADPH oxidase. The NCF1 gene colocalizes with two pseudogenes (NCF1B and NCF1C). These two pseudogenes have a GT deletion in exon 2, resulting in a frameshift and an early stop codon. Here, we report a copy number variation (CNV) of the NCF1 pseudogenes ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-11-13

    authors: Brunson T,Wang Q,Chambers I,Song Q

    更新日期:2010-02-23 00:00:00

  • Molecular organization and chromosomal localization of 5S rDNA in Amazonian Engystomops (Anura, Leiuperidae).

    abstract:BACKGROUND:For anurans, knowledge of 5S rDNA is scarce. For Engystomops species, chromosomal homeologies are difficult to recognize due to the high level of inter- and intraspecific cytogenetic variation. In an attempt to better compare the karyotypes of the Amazonian species Engystomops freibergi and Engystomops peter...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-13-17

    authors: Rodrigues DS,Rivera M,Lourenço LB

    更新日期:2012-03-20 00:00:00

  • ISSR markers show differentiation among Italian populations of Asparagus acutifolius L.

    abstract:BACKGROUND:Asparagus acutifolius L. is a dioecious and native plant species, widely distributed in the Mediterranean Basin. It is known for its fine flavour and could represent an important resource for cultivation programs in desert areas. Few molecular studies have been performed on this species. In the present paper...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-6-17

    authors: Sica M,Gamba G,Montieri S,Gaudio L,Aceto S

    更新日期:2005-03-18 00:00:00

  • Genome-wide linkage scan for genes affecting longitudinal trends in systolic blood pressure.

    abstract::Only one genome scan to date has attempted to make use of the longitudinal data available in the Framingham Heart Study, and this attempt yielded evidence of linkage to a gene for mean systolic blood pressure. We show how the additional information available in these longitudinal data can be utilized to examine linkag...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-4-S1-S82

    authors: Jacobs KB,Gray-McGuire C,Cartier KC,Elston RC

    更新日期:2003-12-31 00:00:00

  • Comparative genomic analysis of Atlantic salmon, Salmo salar, from Europe and North America.

    abstract:BACKGROUND:Several lines of evidence including allozyme analysis, restriction digest patterns and sequencing of mtDNA as well as mini- and micro-satellite allele frequencies indicate that Atlantic salmon (Salmo salar) from North America and Europe are genetically distinct. These observations are supported by karyotype ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-11-105

    authors: Lubieniecki KP,Jones SL,Davidson EA,Park J,Koop BF,Walker S,Davidson WS

    更新日期:2010-11-23 00:00:00

  • Microsatellite linkage analysis, single-nucleotide polymorphisms, and haplotype associations with ECB21 in the COGA data.

    abstract::This study, part of the Genetic Analysis Workshop 14 (GAW14), explored real Collaborative Study on the Genetics of Alcoholism data for linkage and association mapping between genetic polymorphisms (microsatellite and single-nucleotide polymorphisms (SNPs)) and beta (16.5-20 Hz) oscillations of the brain rhythms (ecb21...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-6-S1-S94

    authors: Kraja AT,Borecki IB,Province MA

    更新日期:2005-12-30 00:00:00

  • Focal exposure of limited lung volumes to high-dose irradiation down-regulated organ development-related functions and up-regulated the immune response in mouse pulmonary tissues.

    abstract:BACKGROUND:Despite the emergence of stereotactic body radiotherapy (SBRT) for treatment of medically inoperable early-stage non-small-cell lung cancer patients, the molecular effects of focal exposure of limited lung volumes to high-dose radiation have not been fully characterized. This study was designed to identify m...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-016-0338-9

    authors: Kim BY,Jin H,Lee YJ,Kang GY,Cho J,Lee YS

    更新日期:2016-01-27 00:00:00

  • Statistically efficient association analysis of quantitative traits with haplotypes and untyped SNPs in family studies.

    abstract:BACKGROUND:Associations between haplotypes and quantitative traits provide valuable information about the genetic basis of complex human diseases. Haplotypes also provide an effective way to deal with untyped SNPs. Two major challenges arise in haplotype-based association analysis of family data. First, haplotypes may ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-020-00902-x

    authors: Diao G,Lin DY

    更新日期:2020-09-07 00:00:00

  • Nucleotide variability and linkage disequilibrium patterns in the porcine MUC4 gene.

    abstract:BACKGROUND:MUC4 is a type of membrane anchored glycoprotein and serves as the major constituent of mucus that covers epithelial surfaces of many tissues such as trachea, colon and cervix. MUC4 plays important roles in the lubrication and protection of the surface epithelium, cell proliferation and differentiation, immu...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-13-57

    authors: Yang M,Yang B,Yan X,Ouyang J,Zeng W,Ai H,Ren J,Huang L

    更新日期:2012-07-13 00:00:00

  • Comparative mapping combined with homology-based cloning of the rice genome reveals candidate genes for grain zinc and iron concentration in maize.

    abstract:BACKGROUND:Grain zinc and iron concentration is a complex trait that is controlled by quantitative trait loci (QTL) and is important for maintaining body health. Despite the substantial effort that has been put into identifying QTL for grain zinc and iron concentration, the integration of independent QTL is useful for ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-015-0176-1

    authors: Jin T,Chen J,Zhu L,Zhao Y,Guo J,Huang Y

    更新日期:2015-02-14 00:00:00

  • A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

    abstract:BACKGROUND:Non-pathological cognitive ageing is a distressing condition affecting an increasing number of people in our 'ageing society'. Oxidative stress is hypothesised to have a major role in cellular ageing, including brain ageing. RESULTS:Associations between cognitive ageing and 325 single nucleotide polymorphis...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-8-43

    authors: Harris SE,Fox H,Wright AF,Hayward C,Starr JM,Whalley LJ,Deary IJ

    更新日期:2007-07-02 00:00:00

  • Conserved genomic organisation of Group B Sox genes in insects.

    abstract:BACKGROUND:Sox domain containing genes are important metazoan transcriptional regulators implicated in a wide rage of developmental processes. The vertebrate B subgroup contains the Sox1, Sox2 and Sox3 genes that have early functions in neural development. Previous studies show that Drosophila Group B genes have been f...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-6-26

    authors: McKimmie C,Woerfel G,Russell S

    更新日期:2005-05-19 00:00:00

  • Robustness of genome-wide scanning using archived dried blood spot samples as a DNA source.

    abstract:BACKGROUND:The search to identify disease-susceptible genes requires access to biological material from numerous well-characterized subjects. Archived residual dried blood spot (DBS) samples, also known as Guthrie cards, from national newborn screening programs may provide a DNA source for entire populations. Combined ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-12-58

    authors: Hollegaard MV,Grove J,Grauholm J,Kreiner-Møller E,Bønnelykke K,Nørgaard M,Benfield TL,Nørgaard-Pedersen B,Mortensen PB,Mors O,Sørensen HT,Harboe ZB,Børglum AD,Demontis D,Ørntoft TF,Bisgaard H,Hougaard DM

    更新日期:2011-07-04 00:00:00

  • Genome-wide association and systems genetic analyses of residual feed intake, daily feed consumption, backfat and weight gain in pigs.

    abstract:BACKGROUND:Feed efficiency is one of the major components determining costs of animal production. Residual feed intake (RFI) is defined as the difference between the observed and the expected feed intake given a certain production. Residual feed intake 1 (RFI1) was calculated based on regression of individual daily fee...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-15-27

    authors: Do DN,Ostersen T,Strathe AB,Mark T,Jensen J,Kadarmideen HN

    更新日期:2014-02-17 00:00:00

  • Clustering by genetic ancestry using genome-wide SNP data.

    abstract:BACKGROUND:Population stratification can cause spurious associations in a genome-wide association study (GWAS), and occurs when differences in allele frequencies of single nucleotide polymorphisms (SNPs) are due to ancestral differences between cases and controls rather than the trait of interest. Principal components ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-11-108

    authors: Solovieff N,Hartley SW,Baldwin CT,Perls TT,Steinberg MH,Sebastiani P

    更新日期:2010-12-09 00:00:00

  • Mapping and validation of major quantitative trait loci for kernel length in wild barley (Hordeum vulgare ssp. spontaneum).

    abstract:BACKGROUND:Kernel length is an important target trait in barley (Hordeum vulgare L.) breeding programs. However, the number of known quantitative trait loci (QTLs) controlling kernel length is limited. In the present study, we aimed to identify major QTLs for kernel length, as well as putative candidate genes that migh...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-016-0438-6

    authors: Zhou H,Liu S,Liu Y,Liu Y,You J,Deng M,Ma J,Chen G,Wei Y,Liu C,Zheng Y

    更新日期:2016-09-13 00:00:00

  • A 31-bp indel in the 5' UTR region of GNB1L is significantly associated with chicken body weight and carcass traits.

    abstract:BACKGROUND:G-protein subunit beta 1 like (GNB1L) encodes a G-protein beta-subunit-like polypeptide. Chicken GNB1L is upregulated in the breast muscle of high feed efficiency chickens, and its expression is 1.52-fold that in low feed efficiency chickens. However, no report has described the effects of GNB1L indels on th...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-020-00900-z

    authors: Ren T,Yang Y,Lin W,Li W,Xian M,Fu R,Zhang Z,Mo G,Luo W,Zhang X

    更新日期:2020-08-26 00:00:00

  • Genetic variation in South Indian castes: evidence from Y-chromosome, mitochondrial, and autosomal polymorphisms.

    abstract:BACKGROUND:Major population movements, social structure, and caste endogamy have influenced the genetic structure of Indian populations. An understanding of these influences is increasingly important as gene mapping and case-control studies are initiated in South Indian populations. RESULTS:We report new data on 155 i...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-9-86

    authors: Watkins WS,Thara R,Mowry BJ,Zhang Y,Witherspoon DJ,Tolpinrud W,Bamshad MJ,Tirupati S,Padmavati R,Smith H,Nancarrow D,Filippich C,Jorde LB

    更新日期:2008-12-12 00:00:00

  • Whole-genome variance components linkage analysis using single-nucleotide polymorphisms versus microsatellites on quantitative traits of derived phenotypes from factor analysis of electroencephalogram waves.

    abstract::Alcohol dependence is a serious public health problem. We studied data from families participating in the Collaborative Study on the Genetics of Alcoholism (COGA) and made available to participants in the Genetic Analysis Workshop 14 (GAW14) in order to search for genes predisposing to alcohol dependence. Using factor...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-6-S1-S15

    authors: Yu Y,Meng Y,Ma Q,Farrell J,Farrer LA,Wilcox MA

    更新日期:2005-12-30 00:00:00

  • Linkage mapping of total cholesterol level in a young cohort via nonparametric regression.

    abstract:BACKGROUND:Compared to model-based approaches, nonparametric methods for quantitative trait loci mapping are more robust to deviations in distributional assumptions. In this study, we modify a nonparametric regression method and the "contrast function"- based regression method to analyze total cholesterol level in the ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-4-S1-S92

    authors: Ghosh S,Bertelsen S,Reich T

    更新日期:2003-12-31 00:00:00

  • Wild barley introgression lines revealed novel QTL alleles for root and related shoot traits in the cultivated barley (Hordeum vulgare L.).

    abstract:BACKGROUND:Root is the prime organ that sucks water and nutrients from deep layer of soil. Wild barley diversity exhibits remarkable variation in root system architecture that seems crucial in its adaptation to abiotic stresses like drought. In the present study, we performed quantitative trait locus (QTL) mapping of r...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-014-0107-6

    authors: Naz AA,Arifuzzaman M,Muzammil S,Pillen K,Léon J

    更新日期:2014-10-07 00:00:00

  • Effectiveness of 10 polymorphic microsatellite markers for parentage and pedigree analysis in plateau pika (Ochotona curzoniae).

    abstract:BACKGROUND:The plateau pika (Ochotona curzoniae) is an underground-dwelling mammal, native to the Tibetan plateau of China. A set of 10 polymorphic microsatellite loci has been developed earlier. Its reliability for parentage assignment has been tested in a plateau pika population. Two family groups with a known pedigr...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-11-101

    authors: Li K,Geng J,Qu J,Zhang Y,Hu S

    更新日期:2010-11-10 00:00:00

  • Consomic mouse strain selection based on effect size measurement, statistical significance testing and integrated behavioral z-scoring: focus on anxiety-related behavior and locomotion.

    abstract:BACKGROUND:Selecting chromosome substitution strains (CSSs, also called consomic strains/lines) used in the search for quantitative trait loci (QTLs) consistently requires the identification of the respective phenotypic trait of interest and is simply based on a significant difference between a consomic and host strain...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-016-0411-4

    authors: Labots M,Laarakker MC,Ohl F,van Lith HA

    更新日期:2016-06-29 00:00:00

  • Bivariate linkage analysis of cholesterol and triglyceride levels in the Framingham Heart Study.

    abstract::We performed a bivariate analysis on cholesterol and triglyceride levels on data from the Framingham Heart Study using a new score statistic developed for the detection of potential pleiotropic, or cluster, genes. Univariate score statistics were also computed for each trait. At a significance level 0.001, linkage sig...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-4-S1-S62

    authors: Zhang X,Wang K,Framingham Heart Study.

    更新日期:2003-12-31 00:00:00

  • The chromosomal constitution of fish hybrid lineage revealed by 5S rDNA FISH.

    abstract:BACKGROUND:The establishment of the bisexual fertile fish hybrid lineage including the allodiploid and allotetraploid hybrids, from interspecific hybridization of red crucian carp (Carassius auratus red var. 2n = 100, 2n = AA) (♀) × common carp (Cyprinus carpio L. 2n = 100, 2n = BB) (♂), provided a good platform to inv...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-015-0295-8

    authors: Zhang C,Ye L,Chen Y,Xiao J,Wu Y,Tao M,Xiao Y,Liu S

    更新日期:2015-12-03 00:00:00

  • Leveraging local ancestry to detect gene-gene interactions in genome-wide data.

    abstract:BACKGROUND:Although genome-wide association studies have successfully identified thousands of variants associated to complex traits, these variants only explain a small amount of the entire heritability of the trait. Gene-gene interactions have been proposed as a source to explain a significant percentage of the missin...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-015-0283-z

    authors: Aschard H,Gusev A,Brown R,Pasaniuc B

    更新日期:2015-10-24 00:00:00

  • AB-QTL analysis reveals new alleles associated to proline accumulation and leaf wilting under drought stress conditions in barley (Hordeum vulgare L.).

    abstract:BACKGROUND:Land plants have evolved several measures to maintain their life against abiotic stresses. The accumulation of proline is the most generalized response of plants under drought, heat or salt stress conditions. It is known as an osmoprotectant which also acts as an instant source of energy during drought recov...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-13-61

    authors: Sayed MA,Schumann H,Pillen K,Naz AA,Léon J

    更新日期:2012-07-20 00:00:00

  • Gene expression variations in high-altitude adaptation: a case study of the Asiatic toad (Bufo gargarizans).

    abstract:BACKGROUND:Genome-wide investigation of molecular mechanisms for high-altitude adaptation has attracted great attention in the last few years. In order to understand the contribution of gene expression level variations to high-altitude adaptation in Asiatic toads (Bufo gargarizans), we implemented a reciprocal transpla...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-017-0529-z

    authors: Yang W,Qi Y,Lu B,Qiao L,Wu Y,Fu J

    更新日期:2017-07-03 00:00:00