Polymorphism, GeneticNCT06985160
The Association of Gene Polymorphisms With Invasive Bacterial Infections in Neonates and Young Infants
A study testing Specific single nucleotide polymorphisms in people with Polymorphism, Genetic and Bacterial Infections, run by Ege University at 2 sites in Turkey (Türkiye).
Trial summary
Invasive bacterial infections (IBIs) are globally significant, with high mortality rates, particularly within the critical 0-3 month age bracket. The first three months of life mark a peak in IBI prevalence, with an estimated 10-20% of febrile presentations in this age group resulting in an IBI diagnosis. Read more about this study
- Who is it for?
- Ages 1 day to 3 monthsHealthy volunteers can take part
- Conditions the study is for
- Polymorphism, Genetic, Bacterial Infections, Infant
- What is being tested?
- Specific single nucleotide polymorphisms
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 200 participants
- Where
- 2 sitesTurkey (Türkiye)
- Study dates
- 25 Apr 2020to 15 Mar 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 3 months
- All sexes
- Healthy volunteers accepted
- Child
Who may be able to join
- Infants aged between 1 day and 90 days (under 3 months)
- Hospitalized for evaluation of suspected invasive bacterial infections
- Informed consent obtained from parent(s) or legal guardian(s)
- Blood, urine, cerebrospinal fluid (CSF), or stool samples collected within 72 hours of admission
- Genetic material (blood sample) available for DNA extraction
Who cannot join
- Known or suspected congenital immunodeficiency
- Previous diagnosis of genetic syndromes affecting immune function
- Major congenital anomalies or chromosomal abnormalities
- Antibiotic therapy initiated more than 24 hours before sample collection
- Parental refusal to participate or withdraw consent
Trial locations and contacts
2 sites in 1 country.
Turkey (Türkiye)2 sites
Ege University School of Medicine
Izmir, İzmir, 35100
Ege University School of Medicine
Izmir
About this study
Official title: Association Between Single Nucleotide Polymorphisms in TLR4, LTA and RFP175 Genes and Susceptibility to Invasive Bacterial Infections in Infants Under 3 Months of Age
Invasive bacterial infections (IBIs) are globally significant, with high mortality rates, particularly within the critical 0-3 month age bracket. The first three months of life mark a peak in IBI prevalence, with an estimated 10-20% of febrile presentations in this age group resulting in an IBI diagnosis. Although multiple factors are implicated in this heightened vulnerability, the precise mechanisms driving the differential development of IBIs among similarly situated infants remain unclear. Genetic diversity and susceptibility are increasingly recognized as influential factors. Extensive literature demonstrates a correlation between genetic polymorphisms and susceptibility to invasive bacterial infections.
This study aims to explore the association of gene polymorphisms TLR4 rs2149356 (c.261-468T>G), LTA rs2229094 (c.37T>C), and RFP175 rs1585110 (c.246+8853G>A) with the occurrence of invasive bacterial infections in the population of children aged under 3 months.
We conducted a prospective observational study at a leading tertiary care hospital. The cohort included 100 infants aged 0-3 months diagnosed with IBIs alongside 100 control infants presenting for non-infectious conditions such as trauma, infantile colic, and hyperbilirubinemia. Cases with any symptoms suggesting an infection were excluded from the control group. Invasive bacterial infections categorized in this study included meningitis, pneumonia, sepsis, bacteremia, urinary tract infections, and invasive bacterial gastroenteritis. Diagnostic criteria were stringent: meningitis was confirmed via signs of bacterial infection in cerebrospinal fluid; pneumonia through auscultatory findings and radiographic evidence of pulmonary infiltrates; bacteremia by positive blood cultures; urinary tract infections by significant bacterial cultures from sterile catheterization; and gastroenteritis by the identification of pathogenic organisms in stool cultures. No additional blood was taken from the patients for the study. Instead, blood samples that were collected for tests determined by the physicians due to the patients' condition in the emergency department were retrieved from the laboratory after the requested tests were completed and reused for the study.
Read the detailed description
We conducted a prospective observational study at a leading tertiary care hospital in Turkey. The cohort included 100 infants aged 0-3 months diagnosed with IBIs alongside 100 control infants presenting for non-infectious conditions. Ethical approval was secured from the institutional review board in compliance with the Declaration of Helsinki. Informed consent was obtained in written form from the parents or legal guardians of all participants prior to enrollment.
Invasive bacterial infections categorized in this study included meningitis, pneumonia, sepsis, bacteremia, urinary tract infections, and invasive bacterial gastroenteritis. Diagnostic criteria were stringent: meningitis was confirmed via signs of bacterial infection in cerebrospinal fluid; pneumonia through auscultatory findings and radiographic evidence of pulmonary infiltrates; bacteremia by positive blood cultures; urinary tract infections by significant bacterial cultures from sterile catheterization; and gastroenteritis by the identification of pathogenic organisms in stool cultures.
DNA was extracted from whole blood samples using the QIAamp DNA Mini Kit (Qiagen), according to the manufacturer's instructions. The purity and concentration of the DNA were quantified using a NanoDrop ND-1000 Spectrophotometer. Only DNA samples that met the quality and concentration criteria proceeded to sequencing. The sequence analysis targeted specific regions pertinent to the polymorphisms identified in the study's objectives.
DNA samples were processed using a sequence of analytical techniques to identify the polymorphisms TLR4 rs2149356 (c.261-468T>G), LTA rs2229094 (c.37T>C), and RFP175 rs1585110 (c.246+8853G>A), as detailed in our previous work [18]:
Primers targeting the regions encompassing TLR4 rs2149356 (c.261-468T>G), LTA rs2229094 (c.37T>C), and RFP175 rs1585110 (c.246+8853G>A) were designed using the Primer3 web tool. Criteria for primer design included a length of 18-24 base pairs, GC content between 30-50%, specificity to the target DNA region, and a melting temperature (Tm) ranging from 58-62 °C to ensure optimal amplification of a 300-500 base pair region.
Polymerase Chain Reaction (PCR) was employed for the amplification of the target regions. Each reaction mixture, prepared in a 25 µl volume, contained 0.4 µM of each primer, 2 ng of genomic DNA, 4 mM MgCl2, 0.05 µl Taq DNA polymerase, and 0.4 mM of each dNTP. Twelve such mixtures were assembled in PCR tubes. Amplification was performed under optimized conditions in a thermal cycler.
Post-amplification, the PCR products were subjected to agarose gel electrophoresis for verification. A 2% agarose gel was prepared by dissolving agarose in TBE buffer, followed by addition of ethidium bromide post-cooling. For electrophoresis, PCR products were mixed with loading dye and introduced into the gel alongside a DNA ladder. The electrophoresis was run at 120 volts, after which the gel was visualized under UV light using a gel documentation system.
After verification of the target amplicons by agarose gel electrophoresis, the PCR products were prepared for sequencing. The sequencing was performed using the Illumina MiSeq platform. This high-throughput sequencing process generated FastQ files, which were then assembled into BAM files for detailed examination. Sequence alignment and variant identification were conducted using the Integrative Genomics Viewer. Allelic variants within the sequences of the TLR4 rs2149356, LTA rs2229094, and RFP175 rs1585110 genes were meticulously identified and annotated for each subject in the study cohort.
Allelic and genotypic frequencies of the polymorphisms TLR4 rs2149356, LTA rs2229094, and RFP175 rs1585110 were assessed in patients with invasive bacterial infections compared to control subjects. Genotypic frequencies in the dominant model were evaluated by comparing the combined homozygous and heterozygous variants against the homozygous wild-type. Conversely, the recessive model analysis involved comparing homozygous variants to the combined heterozygous and homozygous wild-type genotypes.
Statistical computations were performed using IBM SPSS Statistics version 25. Categorical variables were analyzed using the chi-square test, and the association risks were quantified as odds ratios with 95% confidence intervals. A p-value of less than 0.05 was set as the threshold for statistical significance.
- Conditions
- Polymorphism, Genetic, Bacterial Infections, Infant
- Being tested
- Specific single nucleotide polymorphisms
- Keywords
- genetic polymorphisms, infant, invasive bacterial infections
- Medical subject headings
- Bacterial Infections
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Specific single nucleotide polymorphismsOther
Next-generation sequencing was performed to analyze the TLR4, LTA, and RFP175 genes, with a focus on specific single nucleotide polymorphisms
| Study group | Role | What they receive |
|---|---|---|
| gene polymorphisms | Other | The cohort included 100 infants aged 0-3 months diagnosed with IBIs alongside 100 control infants presenting for non-infectious conditions. Receives: Other: Specific single nucleotide polymorphisms |
What is being measured
The primary outcome is the main question the study is designed to answer.
Correlation between specific gene polymorphisms and the occurrence of invasive bacterial infections in infants under 3 months
This outcome measures the correlation between the presence of the following gene polymorphisms:
TLR4 rs2149356 (c.261-468T>G),
LTA rs2229094 (c.37T>C), and
RFP175 rs1585110 (c.246+8853G>A), and the occurrence of laboratory-confirmed invasive bacterial infections (IBI) in infants aged <3 months.
Genotyping will be performed using PCR-based methods. IBIs will be categorized into one or more of the following based on predefined diagnostic criteria:
Meningitis: confirmed by cerebrospinal fluid (CSF) pleocytosis and laboratory indicators of bacterial infection in CSF.
Pneumonia: diagnosed based on auscultatory findings and radiographic evidence of pulmonary infiltrates.
Sepsis and bacteremia: identified by positive blood cultures.
Urinary tract infection: defined by a significant number of bacterial colonies in urine obtained by sterile catheterization.
Invasive bacterial gastroenteritis: diagnosed by isolation of pathogenic bacteria in stool cultures.
Measured: 2 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 May 2025
- Study start25 Apr 2020
- Primary completion20 Dec 2023
- Study completion15 Mar 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (8)Papers the sponsor has linked to this study.
- Other trials for Polymorphism, GeneticStudies of the same condition, open and under way.
- More trials run by Ege UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 200 participants (actual)
Sponsor and investigators
- Lead sponsor
- Ege University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Caner Turan, Ege University
- Investigators
- Ali Yurtseven, MD, Principal investigator, Ege University, School of Medicine Department of Pediatrics, Izmir, Turkey.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06985160
- Sponsor's protocol ID
- 21975
- Status last verified
- May 2025
- First submitted
- 3 Apr 2024
- Last updated
- 22 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Gomez B, Mintegi S, Bressan S, Da Dalt L, Gervaix A, Lacroix L; European Group for Validation of the Step-by-Step Approach. Validation of the "Step-by-Step" Approach in the Management of Young Febrile Infants. Pediatrics. 2016 Aug;138(2):e20154381. doi: 10.1542/peds.2015-4381. Epub 2016 Jul 5.
PubMed 27382134Carrasco-Colom J, Jordan I, Alsina L, Garcia-Garcia JJ, Cambra-Lasaosa FJ, Martin-Mateos MA, Juan M, Munoz-Almagro C. Association of Polymorphisms in IRAK1, IRAK4 and MyD88, and Severe Invasive Pneumococcal Disease. Pediatr Infect Dis J. 2015 Sep;34(9):1008-13. doi: 10.1097/INF.0000000000000779.
PubMed 26075815Ladhani SN, Davila S, Hibberd ML, Heath PT, Ramsay ME, Slack MP, Pollard AJ, Booy R. Association between single-nucleotide polymorphisms in Mal/TIRAP and interleukin-10 genes and susceptibility to invasive haemophilus influenzae serotype b infection in immunized children. Clin Infect Dis. 2010 Oct 1;51(7):761-7. doi: 10.1086/656236.
PubMed 20804371Zhao J, Gu Q, Wang L, Xu W, Chu L, Wang Y, Li Z, Wu S, Xu J, Hu Z, Shu Q, Fang X. Low-Copy Number Polymorphism in DEFA1/DEFA3 Is Associated with Susceptibility to Hospital-Acquired Infections in Critically Ill Patients. Mediators Inflamm. 2018 May 22;2018:2152650. doi: 10.1155/2018/2152650. eCollection 2018.
PubMed 29950924Chen Q, Yang Y, Hou J, Shu Q, Yin Y, Fu W, Han F, Hou T, Zeng C, Nemeth E, Linzmeier R, Ganz T, Fang X. Increased gene copy number of DEFA1/DEFA3 worsens sepsis by inducing endothelial pyroptosis. Proc Natl Acad Sci U S A. 2019 Feb 19;116(8):3161-3170. doi: 10.1073/pnas.1812947116. Epub 2019 Feb 4.
PubMed 30718392Delongui F, Carvalho Grion CM, Ehara Watanabe MA, Morimoto HK, Bonametti AM, Maeda Oda JM, Kallaur AP, Matsuo T, Reiche EM. Association of tumor necrosis factor beta genetic polymorphism and sepsis susceptibility. Exp Ther Med. 2011 Mar;2(2):349-356. doi: 10.3892/etm.2011.213. Epub 2011 Jan 20.
PubMed 22977509Esposito S, Bosis S, Orenti A, Spena S, Montinaro V, Bianchini S, Zampiero A, Principi N. Genetic polymorphisms and the development of invasive bacterial infections in children. Int J Immunopathol Pharmacol. 2016 Mar;29(1):99-104. doi: 10.1177/0394632015622961. Epub 2015 Dec 18.
PubMed 26684632Yurtseven A, Durmusalioglu EA, Turan B, Saz EU. Correlation between single nucleotide polymorphisms in TLR4, LTA and RFP175 genes and susceptibility to invasive bacterial infections in infants under three months of age: A case control study. Pak J Med Sci. 2025 Dec;41(12):3498-3502. doi: 10.12669/pjms.41.12.12651.
PubMed 41450988
Study at a glance
From the registry record, last updated by the sponsor on 22 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Association Between Single Nucleotide Polymorphisms in TLR4, LTA and RFP175 Genes and Susceptibility to Invasive Bacterial Infections in Infants Under 3 Months of Age
- ClinicalTrials.gov ID
- NCT06985160
- Acronym / sponsor ID
- 21975
- Conditions
- Polymorphism, Genetic, Bacterial Infections, Infant
- Keywords
- genetic polymorphisms, infant, invasive bacterial infections
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 200 participants (actual)
- Lead sponsor
- Ege UniversityUniversity, hospital or other
- Study start
- 25 Apr 2020 (actual)
- Primary completion
- 20 Dec 2023 (actual)
- Study completion
- 15 Mar 2024 (actual)
- First posted
- 22 May 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Invasive bacterial infections (IBIs) are globally significant, with high mortality rates, particularly within the critical 0-3 month age bracket. The first three months of life mark a peak in IBI prevalence, with an estimated 10-20% of febrile presentations in this age group resulting in an IBI diagnosis. Although multiple factors are implicated in this heightened vulnerability, the precise mechanisms driving the differential development of IBIs among similarly situated infants remain unclear. Genetic diversity and susceptibility are increasingly recognized as influential factors. Extensive literature demonstrates a correlation between genetic polymorphisms and susceptibility to invasive bacterial infections.
This study aims to explore the association of gene polymorphisms TLR4 rs2149356 (c.261-468T>G), LTA rs2229094 (c.37T>C), and RFP175 rs1585110 (c.246+8853G>A) with the occurrence of invasive bacterial infections in the population of children aged under 3 months.
We conducted a prospective observational study at a leading tertiary care hospital. The cohort included 100 infants aged 0-3 months diagnosed with IBIs alongside 100 control infants presenting for non-infectious conditions such as trauma, infantile colic, and hyperbilirubinemia. Cases with any symptoms suggesting an infection were excluded from the control group. Invasive bacterial infections categorized in this study included meningitis, pneumonia, sepsis, bacteremia, urinary tract infections, and invasive bacterial gastroenteritis. Diagnostic criteria were stringent: meningitis was confirmed via signs of bacterial infection in cerebrospinal fluid; pneumonia through auscultatory findings and radiographic evidence of pulmonary infiltrates; bacteremia by positive blood cultures; urinary tract infections by significant bacterial cultures from sterile catheterization; and gastroenteritis by the identification of pathogenic organisms in stool cultures. No additional blood was taken from the patients for the study. Instead, blood samples that were collected for tests determined by the physicians due to the patients' condition in the emergency department were retrieved from the laboratory after the requested tests were completed and reused for the study.
Detailed description
We conducted a prospective observational study at a leading tertiary care hospital in Turkey. The cohort included 100 infants aged 0-3 months diagnosed with IBIs alongside 100 control infants presenting for non-infectious conditions. Ethical approval was secured from the institutional review board in compliance with the Declaration of Helsinki. Informed consent was obtained in written form from the parents or legal guardians of all participants prior to enrollment.
Invasive bacterial infections categorized in this study included meningitis, pneumonia, sepsis, bacteremia, urinary tract infections, and invasive bacterial gastroenteritis. Diagnostic criteria were stringent: meningitis was confirmed via signs of bacterial infection in cerebrospinal fluid; pneumonia through auscultatory findings and radiographic evidence of pulmonary infiltrates; bacteremia by positive blood cultures; urinary tract infections by significant bacterial cultures from sterile catheterization; and gastroenteritis by the identification of pathogenic organisms in stool cultures.
DNA was extracted from whole blood samples using the QIAamp DNA Mini Kit (Qiagen), according to the manufacturer's instructions. The purity and concentration of the DNA were quantified using a NanoDrop ND-1000 Spectrophotometer. Only DNA samples that met the quality and concentration criteria proceeded to sequencing. The sequence analysis targeted specific regions pertinent to the polymorphisms identified in the study's objectives.
DNA samples were processed using a sequence of analytical techniques to identify the polymorphisms TLR4 rs2149356 (c.261-468T>G), LTA rs2229094 (c.37T>C), and RFP175 rs1585110 (c.246+8853G>A), as detailed in our previous work [18]:
Primers targeting the regions encompassing TLR4 rs2149356 (c.261-468T>G), LTA rs2229094 (c.37T>C), and RFP175 rs1585110 (c.246+8853G>A) were designed using the Primer3 web tool. Criteria for primer design included a length of 18-24 base pairs, GC content between 30-50%, specificity to the target DNA region, and a melting temperature (Tm) ranging from 58-62 °C to ensure optimal amplification of a 300-500 base pair region.
Polymerase Chain Reaction (PCR) was employed for the amplification of the target regions. Each reaction mixture, prepared in a 25 µl volume, contained 0.4 µM of each primer, 2 ng of genomic DNA, 4 mM MgCl2, 0.05 µl Taq DNA polymerase, and 0.4 mM of each dNTP. Twelve such mixtures were assembled in PCR tubes. Amplification was performed under optimized conditions in a thermal cycler.
Post-amplification, the PCR products were subjected to agarose gel electrophoresis for verification. A 2% agarose gel was prepared by dissolving agarose in TBE buffer, followed by addition of ethidium bromide post-cooling. For electrophoresis, PCR products were mixed with loading dye and introduced into the gel alongside a DNA ladder. The electrophoresis was run at 120 volts, after which the gel was visualized under UV light using a gel documentation system.
After verification of the target amplicons by agarose gel electrophoresis, the PCR products were prepared for sequencing. The sequencing was performed using the Illumina MiSeq platform. This high-throughput sequencing process generated FastQ files, which were then assembled into BAM files for detailed examination. Sequence alignment and variant identification were conducted using the Integrative Genomics Viewer. Allelic variants within the sequences of the TLR4 rs2149356, LTA rs2229094, and RFP175 rs1585110 genes were meticulously identified and annotated for each subject in the study cohort.
Allelic and genotypic frequencies of the polymorphisms TLR4 rs2149356, LTA rs2229094, and RFP175 rs1585110 were assessed in patients with invasive bacterial infections compared to control subjects. Genotypic frequencies in the dominant model were evaluated by comparing the combined homozygous and heterozygous variants against the homozygous wild-type. Conversely, the recessive model analysis involved comparing homozygous variants to the combined heterozygous and homozygous wild-type genotypes.
Statistical computations were performed using IBM SPSS Statistics version 25. Categorical variables were analyzed using the chi-square test, and the association risks were quantified as odds ratios with 95% confidence intervals. A p-value of less than 0.05 was set as the threshold for statistical significance.
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| gene polymorphisms | Other | Other: Specific single nucleotide polymorphismsThe cohort included 100 infants aged 0-3 months diagnosed with IBIs alongside 100 control infants presenting for non-infectious conditions. |
Who may qualify
- Ages
- 1 day to 3 months
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
Key inclusion criteria (5 listed)
- Infants aged between 1 day and 90 days (under 3 months)
- Hospitalized for evaluation of suspected invasive bacterial infections
- Informed consent obtained from parent(s) or legal guardian(s)
- Blood, urine, cerebrospinal fluid (CSF), or stool samples collected within 72 hours of admission
- Genetic material (blood sample) available for DNA extraction
Key exclusion criteria (5 listed)
- Known or suspected congenital immunodeficiency
- Previous diagnosis of genetic syndromes affecting immune function
- Major congenital anomalies or chromosomal abnormalities
- Antibiotic therapy initiated more than 24 hours before sample collection
- Parental refusal to participate or withdraw consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Specific single nucleotide polymorphismsNext-generation sequencing was performed to analyze the TLR4, LTA, and RFP175 genes, with a focus on specific single nucleotide polymorphisms | Other | gene polymorphisms |
Primary outcome
Correlation between specific gene polymorphisms and the occurrence of invasive bacterial infections in infants under 3 months
Time frame: 2 weeks
This outcome measures the correlation between the presence of the following gene polymorphisms: TLR4 rs2149356 (c.261-468T>G), LTA rs2229094 (c.37T>C), and RFP175 rs1585110 (c.246+8853G>A), and the occurrence of laboratory-confirmed invasive bacterial infections (IBI) in infants aged <3 months. Genotyping will be performed using PCR-based methods. IBIs will be categorized into one or more of the following based on predefined diagnostic criteria: Meningitis: confirmed by cerebrospinal fluid (CSF) pleocytosis and laboratory indicators of bacterial infection in CSF. Pneumonia: diagnosed based on auscultatory findings and radiographic evidence of pulmonary infiltrates. Sepsis and bacteremia: identified by positive blood cultures. Urinary tract infection: defined by a significant number of bacterial colonies in urine obtained by sterile catheterization. Invasive bacterial gastroenteritis: diagnosed by isolation of pathogenic bacteria in stool cultures.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 May 2025.
- Results publication: PubMed 27382134Gomez B, Mintegi S, Bressan S, Da Dalt L, Gervaix A, Lacroix L; European Group for Validation of the Step-by-Step Approach. Validation of the "Step-by-Step" Approach in the Management of Young Febrile Infants. Pediatrics. 2016 Aug;138(2):e20154381. doi: 10.1542/peds.2015-4381. Epub 2016 Jul 5.
- Results publication: PubMed 26075815Carrasco-Colom J, Jordan I, Alsina L, Garcia-Garcia JJ, Cambra-Lasaosa FJ, Martin-Mateos MA, Juan M, Munoz-Almagro C. Association of Polymorphisms in IRAK1, IRAK4 and MyD88, and Severe Invasive Pneumococcal Disease. Pediatr Infect Dis J. 2015 Sep;34(9):1008-13. doi: 10.1097/INF.0000000000000779.
- Results publication: PubMed 20804371Ladhani SN, Davila S, Hibberd ML, Heath PT, Ramsay ME, Slack MP, Pollard AJ, Booy R. Association between single-nucleotide polymorphisms in Mal/TIRAP and interleukin-10 genes and susceptibility to invasive haemophilus influenzae serotype b infection in immunized children. Clin Infect Dis. 2010 Oct 1;51(7):761-7. doi: 10.1086/656236.
- Results publication: PubMed 29950924Zhao J, Gu Q, Wang L, Xu W, Chu L, Wang Y, Li Z, Wu S, Xu J, Hu Z, Shu Q, Fang X. Low-Copy Number Polymorphism in DEFA1/DEFA3 Is Associated with Susceptibility to Hospital-Acquired Infections in Critically Ill Patients. Mediators Inflamm. 2018 May 22;2018:2152650. doi: 10.1155/2018/2152650. eCollection 2018.
- Results publication: PubMed 30718392Chen Q, Yang Y, Hou J, Shu Q, Yin Y, Fu W, Han F, Hou T, Zeng C, Nemeth E, Linzmeier R, Ganz T, Fang X. Increased gene copy number of DEFA1/DEFA3 worsens sepsis by inducing endothelial pyroptosis. Proc Natl Acad Sci U S A. 2019 Feb 19;116(8):3161-3170. doi: 10.1073/pnas.1812947116. Epub 2019 Feb 4.
- Results publication: PubMed 22977509Delongui F, Carvalho Grion CM, Ehara Watanabe MA, Morimoto HK, Bonametti AM, Maeda Oda JM, Kallaur AP, Matsuo T, Reiche EM. Association of tumor necrosis factor beta genetic polymorphism and sepsis susceptibility. Exp Ther Med. 2011 Mar;2(2):349-356. doi: 10.3892/etm.2011.213. Epub 2011 Jan 20.
- Results publication: PubMed 26684632Esposito S, Bosis S, Orenti A, Spena S, Montinaro V, Bianchini S, Zampiero A, Principi N. Genetic polymorphisms and the development of invasive bacterial infections in children. Int J Immunopathol Pharmacol. 2016 Mar;29(1):99-104. doi: 10.1177/0394632015622961. Epub 2015 Dec 18.
- Derived from this study: PubMed 41450988Yurtseven A, Durmusalioglu EA, Turan B, Saz EU. Correlation between single nucleotide polymorphisms in TLR4, LTA and RFP175 genes and susceptibility to invasive bacterial infections in infants under three months of age: A case control study. Pak J Med Sci. 2025 Dec;41(12):3498-3502. doi: 10.12669/pjms.41.12.12651.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Ali Yurtseven, MD principal investigator
Ege University, School of Medicine Department of Pediatrics, Izmir, Turkey.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Specific single nucleotide polymorphisms in people with Polymorphism, Genetic and Bacterial Infections, run by Ege University at 2 sites in Turkey (Türkiye).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 May 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Correlation between specific gene polymorphisms and the occurrence of invasive bacterial infections in infants under 3 months (time frame: 2 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06985160, which also lists 8 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 May 2025.