TNFSF15 promoter polymorphisms increase the susceptibility to small cell lung cancer: a case-control study.

Abstract:

BACKGROUND:Tumor necrosis factor superfamily member 15 (TNFSF15) is closely related to tumorigenesis and development. This study aimed to investigate the correlations between TNFSF15 polymorphisms and genetic susceptibility to lung cancer. METHODS:This case-control study included 209 small cell lung cancer patients (SCLC), 340 non- small cell lung cancer patients (NSCLC) and 460 health controls. TNFSF15-638 A > G and - 358 T > C polymorphisms were genotyped by polymerase chain reaction-restrictive fragment length polymorphism (PCR-RFLP) analysis. Odds ratio (OR) and 95% confidence interval (95% CI) were estimated by unconditional logistic regression. RESULTS:Our results showed that subjects carrying the TNFSF15-638GG genotype or -358CC genotype were more likely to develop SCLC (-638GG, OR = 1.84, 95%CI = 1.13-2.99; -358CC, OR = 2.44, 95%CI = 1.46-4.06), but not NSCLC (P > 0.05). In stratified analysis, -638GG genotype was related to SCLC among males (OR = 1.95, 95%CI = 1.09-3.45, P = 0.023) and older patients (OR = 2.93, 95%CI = 1.44-8.68, P = 0.006). However, -358CC genotype was associated with SCLC among females (OR = 8.42, 95%CI = 2.22-31.89, P = 0.002) and older subjects with OR (95%CI) of 11.04 (3.57-34.15) (P < 0.001). Moreover, TNFSF15 -358CC was linked with a higher risk of SCLC among non-smokers (OR = 2.54, 95%CI = 1.20-5.35, P = 0.015) but not among smokers (OR = 1.88, 95%CI = 0.92-3.84, P = 0.086). CONCLUSION:These findings highlight the importance of TNFSF15 polymorphisms in the development of SCLC.

journal_name

BMC Med Genet

journal_title

BMC medical genetics

authors

Gao H,Niu Z,Zhang Z,Wu H,Xie Y,Yang Z,Li A,Jia Z,Zhang X

doi

10.1186/s12881-019-0762-6

subject

Has Abstract

pub_date

2019-02-08 00:00:00

pages

29

issue

1

issn

1471-2350

pii

10.1186/s12881-019-0762-6

journal_volume

20

pub_type

杂志文章
  • Genetic determinants of glucose-6-phosphate dehydrogenase activity in Kenya.

    abstract:BACKGROUND:The relationship between glucose-6-phosphate dehydrogenase (G6PD) deficiency and clinical phenomena such as primaquine-sensitivity and protection from severe malaria remains poorly defined, with past association studies yielding inconsistent and conflicting results. One possibility is that examination of a s...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-014-0093-6

    authors: Shah SS,Macharia A,Makale J,Uyoga S,Kivinen K,Craik R,Hubbart C,Wellems TE,Rockett KA,Kwiatkowski DP,Williams TN

    更新日期:2014-09-09 00:00:00

  • Genome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities Studies.

    abstract:BACKGROUND:The Framingham Heart Study (FHS) recently obtained initial results from the first genome-wide association scan for renal traits. The study of 70,987 single nucleotide polymorphisms (SNPs) in 1,010 FHS participants provides a list of SNPs showing the strongest associations with renal traits which need to be v...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-9-49

    authors: Kottgen A,Kao WH,Hwang SJ,Boerwinkle E,Yang Q,Levy D,Benjamin EJ,Larson MG,Astor BC,Coresh J,Fox CS

    更新日期:2008-06-03 00:00:00

  • EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.

    abstract:BACKGROUND:Waardenburg syndrome type I (WS1), an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. Abnormal physical signs such as dystopia canthorum, patchy hypopigmentation and sensorineural hearing loss are common, but short stature is not associated with WS1. CASE ...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-015-0165-2

    authors: Li C,Chen R,Fan X,Luo J,Qian J,Wang J,Xie B,Shen Y,Chen S

    更新日期:2015-04-11 00:00:00

  • Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1.

    abstract:BACKGROUND:The TPH2 gene encodes the enzyme responsible for serotonin (5-HT) synthesis in the Central Nervous System (CNS). Stereotypic and repetitive behaviors are influenced by 5-HT, and initial studies report an association of TPH2 alleles with childhood-onset obsessive-compulsive disorder (OCD) and with autism. GLO...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-8-11

    authors: Sacco R,Papaleo V,Hager J,Rousseau F,Moessner R,Militerni R,Bravaccio C,Trillo S,Schneider C,Melmed R,Elia M,Curatolo P,Manzi B,Pascucci T,Puglisi-Allegra S,Reichelt KL,Persico AM

    更新日期:2007-03-08 00:00:00

  • Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.

    abstract:BACKGROUND:Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. CASE PRESENTATION:Family members underwent audiological and imaging evaluations, including pure tone audiometry ...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-017-0511-7

    authors: Choi HJ,Lee JS,Yu S,Cha DH,Gee HY,Choi JY,Lee JD,Jung J

    更新日期:2017-12-19 00:00:00

  • Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.

    abstract:BACKGROUND:Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital limb contractures and comprise at least 10 clinical subtypes. Here, we describe our findings in two Chinese families: Family 1 with DA2B (MIM 601680) and Family 2 with mild DA. METHOD...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-018-0692-8

    authors: Li S,You Y,Gao J,Mao B,Cao Y,Zhao X,Zhang X

    更新日期:2018-10-03 00:00:00

  • PedHunter 2.0 and its usage to characterize the founder structure of the Old Order Amish of Lancaster County.

    abstract:BACKGROUND:Because they are a closed founder population, the Old Order Amish (OOA) of Lancaster County have been the subject of many medical genetics studies. We constructed four versions of Anabaptist Genealogy Database (AGDB) using three sources of genealogies and multiple updates. In addition, we developed PedHunter...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-11-68

    authors: Lee WJ,Pollin TI,O'Connell JR,Agarwala R,Schäffer AA

    更新日期:2010-05-02 00:00:00

  • Silencing of microRNA-210 inhibits the progression of liver cancer and hepatitis B virus-associated liver cancer via targeting EGR3.

    abstract:BACKGROUND:This study was aimed to investigate the regulatory role of microRNA-210 (miRNA-210) on the progression of liver cancer and Hepatitis B virus (HBV)-associated liver cancer. METHODS:The expression of miRNA-210 was detected in liver tissues of HBV-associated cirrhosis and liver cancer, and in HepG2 and HepG2.2...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-020-0974-9

    authors: Li X,Yuan M,Song L,Wang Y

    更新日期:2020-03-06 00:00:00

  • A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.

    abstract:BACKGROUND:N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NAT, responsible for acetylating ~ 40% of human proteins. Recently, NAA10 germline variants were found...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-019-0803-1

    authors: Ree R,Geithus AS,Tørring PM,Sørensen KP,Damkjær M,DDD study.,Lynch SA,Arnesen T

    更新日期:2019-06-07 00:00:00

  • Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.

    abstract:BACKGROUND:Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeletions encompassing the NF1 gene and its flanking regions. NF1 is charact...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-13-98

    authors: Mußotter T,Kluwe L,Högel J,Nguyen R,Cooper DN,Mautner VF,Kehrer-Sawatzki H

    更新日期:2012-10-26 00:00:00

  • Evaluation of an association between plasma total homocysteine and schizophrenia by a Mendelian randomization analysis.

    abstract:BACKGROUND:The results of meta-analyses conducted by previous association studies between total homocysteine and schizophrenia suggest that an elevated total homocysteine level is a risk factor for schizophrenia. However, observational studies have potential limitations, such as confounding and reverse causation. In th...

    journal_title:BMC medical genetics

    pub_type: 杂志文章,meta分析

    doi:10.1186/s12881-015-0197-7

    authors: Numata S,Kinoshita M,Tajima A,Nishi A,Imoto I,Ohmori T

    更新日期:2015-07-26 00:00:00

  • Glucocorticoid receptor gene polymorphisms do not affect growth in fetal and early postnatal life. The Generation R Study.

    abstract:BACKGROUND:Glucocorticoids have an important role in early growth and development. Glucocorticoid receptor gene polymorphisms have been identified that contribute to the variability in glucocorticoid sensitivity. We examined whether these glucocorticoid receptor gene polymorphisms are associated with growth in fetal an...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-11-39

    authors: Geelhoed MJ,Steegers EA,Koper JW,van Rossum EF,Moll HA,Raat H,Tiemeier H,Hofman A,Jaddoe VW

    更新日期:2010-03-03 00:00:00

  • The role of mitochondrial genomics in patients with non-alcoholic steatohepatitis (NASH).

    abstract:BACKGROUND:Visceral obesity and metabolic syndrome are commonly associated with non-alcoholic fatty liver disease (NAFLD). The progression of steatosis to NASH depends on a number of metabolic and patient-related factors. The mechanisms of genetic predisposition towards the development of NASH and related fibrosis rema...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-016-0324-0

    authors: Mehta R,Jeiran K,Koenig AB,Otgonsuren M,Goodman Z,Baranova A,Younossi Z

    更新日期:2016-09-05 00:00:00

  • A novel mutation of the MEN1 gene in a patient with multiple endocrine neoplasia type 1 and recurrent fibromyxoid sarcoma - a case report.

    abstract:BACKGROUND:Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant tumor such as low-grade fibromyxoid sarcoma has not been described in the literature. Moreover, the MEN1 gene mut...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-020-01129-4

    authors: Radman M,Milicevic T

    更新日期:2020-09-29 00:00:00

  • Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report.

    abstract:BACKGROUND:Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive genetic disease that is characterized by pain, stiffness and enlargement of multiple joints with an age of onset between 3 and 8 years old. Mutations in the WISP3 (Wnt1-inducible signal pathway) gene are known to be the cause of PPD. ...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-017-0507-3

    authors: Hu Q,Liu J,Wang Y,Wang J,Shi H,Sun Y,Wu X,Yang C,Teng J

    更新日期:2017-12-15 00:00:00

  • A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.

    abstract:BACKGROUND:Propionic acidemia (PA)(OMIM#606054) is an inborn error of branched-chain amino acid metabolism, caused by defects in the propionyl-CoA carboxylase (PCC) enzyme which encoded by the PCCA and PCCB genes. CASE PRESENTATION:Here we report a Chinese neonate diagnosed with suspected PA based on the clinical symp...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-020-01102-1

    authors: Wang HR,Liu YQ,He XL,Sun J,Zeng FW,Yan CB,Li H,Gao SY,Yang Y

    更新日期:2020-08-20 00:00:00

  • No association of CDK5 genetic variants with Alzheimer's disease risk.

    abstract:BACKGROUND:As cyclin-dependent kinase 5 (CDK5) has been implicated in the abnormal hyperphosphorylation of tau in Alzheimer's disease (AD) brain, and the development of neurofibrillary tangles, we examined the contribution of this gene to the susceptibility for AD. METHODS:We examined genetic variations of CDK5 by gen...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-10-68

    authors: Vázquez-Higuera JL,Mateo I,Sánchez-Juan P,Rodríguez-Rodríguez E,Infante J,Berciano J,Combarros O

    更新日期:2009-07-17 00:00:00

  • Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

    abstract:BACKGROUND:KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS). METHODS:Here, we report a new case of TMBTS diagnosed in a L...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-016-0304-4

    authors: Mégarbané A,Al-Ali R,Choucair N,Lek M,Wang E,Ladjimi M,Rose CM,Hobeika R,Macary Y,Temanni R,Jithesh PV,Chouchane A,Sastry KS,Thomas R,Tomei S,Liu W,Marincola FM,MacArthur D,Chouchane L

    更新日期:2016-06-10 00:00:00

  • Differentially expressed alternatively spliced genes in malignant pleural mesothelioma identified using massively parallel transcriptome sequencing.

    abstract:BACKGROUND:Analyses of Expressed Sequence Tags (ESTs) databases suggest that most human genes have multiple alternative splice variants. The alternative splicing of pre-mRNA is tightly regulated during development and in different tissue types. Changes in splicing patterns have been described in disease states. Recentl...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-10-149

    authors: Dong L,Jensen RV,De Rienzo A,Gordon GJ,Xu Y,Sugarbaker DJ,Bueno R

    更新日期:2009-12-31 00:00:00

  • The Framingham Heart Study, on its way to becoming the gold standard for Cardiovascular Genetic Epidemiology?

    abstract::The Framingham Heart Study, founded in 1948 to examine the epidemiology of cardiovascular disease in a small town outside of Boston, has become the worldwide standard for cardiovascular epidemiology. It is among the longest running, most comprehensively characterized multi-generational studies in the world. Such semin...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-8-63

    authors: Jaquish CE

    更新日期:2007-10-04 00:00:00

  • Impacts of CR1 genetic variants on cerebrospinal fluid and neuroimaging biomarkers in alzheimer's disease.

    abstract:BACKGROUND:The complement component (3b/4b) receptor 1 gene (CR1) gene has been proved to affect the susceptibility of Alzheimer's disease (AD) in different ethnic and districts groups. However, the effect of CR1 genetic variants on amyloid β (Aβ) metabolism of AD human is still unclear. Hence, the aim of this study wa...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-020-01114-x

    authors: Zhu XC,Dai WZ,Ma T

    更新日期:2020-09-12 00:00:00

  • Genetic, household and spatial clustering of leprosy on an island in Indonesia: a population-based study.

    abstract:BACKGROUND:It is generally accepted that genetic factors play a role in susceptibility to both leprosy per se and leprosy type, but only few studies have tempted to quantify this. Estimating the contribution of genetic factors to clustering of leprosy within families is difficult since these persons often share the sam...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-6-40

    authors: Bakker MI,May L,Hatta M,Kwenang A,Klatser PR,Oskam L,Houwing-Duistermaat JJ

    更新日期:2005-11-24 00:00:00

  • CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.

    abstract:BACKGROUND:CHARGE syndrome is an autosomal dominant disorder, characterized by ocular Coloboma, congenital Heart defects, choanal Atresia, Retardation, Genital anomalies and Ear anomalies. Over 90 % of typical CHARGE patients are mutated in the CHD7 gene, 65 %-70 % of the cases for all typical and suspected cases combi...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-015-0225-7

    authors: Pisaneschi E,Sirleto P,Lepri FR,Genovese S,Dentici ML,Petrocchi S,Angioni A,Digilio MC,Dallapiccola B

    更新日期:2015-09-03 00:00:00

  • HLA haplotypes associated with hemochromatosis mutations in the Spanish population.

    abstract:BACKGROUND:The present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for the S65C mutation. METHODS:The study population includes: 1123 healthy individuals, 100 homozyg...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-5-25

    authors: Pacho A,Mancebo E,del Rey MJ,Castro MJ,Oliver D,García-Berciano M,González L,Morales P

    更新日期:2004-10-21 00:00:00

  • Polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and susceptibility to pediatric acute lymphoblastic leukemia in a German study population.

    abstract:BACKGROUND:Methylenetetrahydrofolate reductase (MTHFR) has a major impact on the regulation of the folic acid pathway due to conversion of 5,10-methylenetetrahydrofolate (methylene-THF) to 5-methyl-THF. Two common polymorphisms (677C>T and 1298A>C) in the gene coding for MTHFR have been shown to reduce MTHFR enzyme act...

    journal_title:BMC medical genetics

    pub_type: 杂志文章,多中心研究

    doi:10.1186/1471-2350-6-23

    authors: Schnakenberg E,Mehles A,Cario G,Rehe K,Seidemann K,Schlegelberger B,Elsner HA,Welte KH,Schrappe M,Stanulla M

    更新日期:2005-05-27 00:00:00

  • Association of BAK1 single nucleotide polymorphism with a risk for dengue hemorrhagic fever.

    abstract:BACKGROUND:Dengue hemorrhagic fever (DHF) is a severe life-threatening form of dengue infection. Low platelet count is one of the characteristic clinical manifestations in patients with severe dengue. However, little is known about genetic factors in the host that cause low platelet count in patients with dengue. METH...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-016-0305-3

    authors: Dang TN,Naka I,Sa-Ngasang A,Anantapreecha S,Wichukchinda N,Sawanpanyalert P,Patarapotikul J,Tsuchiya N,Ohashi J

    更新日期:2016-07-11 00:00:00

  • Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report.

    abstract:BACKGROUND:Ornithine transcarbamylase deficiency (OTCD) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations. Although a total of 417 disease-causing mutations in OTC have been reported, structural abnormalities in this gene are rare. We here describe a female OTCD case ca...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-018-0733-3

    authors: Yokoi K,Nakajima Y,Inagaki H,Tsutsumi M,Ito T,Kurahashi H

    更新日期:2018-12-12 00:00:00

  • Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.

    abstract:BACKGROUND:About 20 % of hereditary breast cancers are caused by mutations in BRCA1 and BRCA2 genes. Since BRCA1 and BRCA2 mutations may be spread throughout the gene, genetic testing is usually performed by direct sequencing of entire coding regions. In some populations, especially if relatively isolated, a few number...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-016-0274-6

    authors: Cini G,Mezzavilla M,Della Puppa L,Cupelli E,Fornasin A,D'Elia AV,Dolcetti R,Damante G,Bertok S,Miolo G,Maestro R,de Paoli P,Amoroso A,Viel A

    更新日期:2016-02-06 00:00:00

  • Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia.

    abstract:BACKGROUND:Thalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells. Thalassemia cases rank fifth in the list of national catastrophic diseases in Indonesia; however, nationwide screening for thalassemia carriers is not yet mandatory. This study aimed to assess whether ...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-019-0868-x

    authors: Maskoen AM,Reniarti L,Sahiratmadja E,Sisca J,Effendi SH

    更新日期:2019-08-09 00:00:00

  • Common polymorphisms within the NR4A3 locus, encoding the orphan nuclear receptor Nor-1, are associated with enhanced beta-cell function in non-diabetic subjects.

    abstract:BACKGROUND:Neuron-derived orphan receptor (Nor) 1, nuclear receptor (Nur) 77, and nuclear receptor-related protein (Nurr) 1 constitute the NR4A family of orphan nuclear receptors which were recently found to modulate hepatic glucose production, insulin signalling in adipocytes, and oxidative metabolism in skeletal musc...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-10-77

    authors: Weyrich P,Staiger H,Stancáková A,Schäfer SA,Kirchhoff K,Ullrich S,Ranta F,Gallwitz B,Stefan N,Machicao F,Kuusisto J,Laakso M,Fritsche A,Häring HU

    更新日期:2009-08-14 00:00:00