scholarly journals Candidate gene family-based and case-control studies of susceptibility to high Schistosoma mansoni worm burden in African children: a protocol

2021 ◽  
Vol 4 ◽  
pp. 36
Author(s):  
Oscar A. Nyangiri ◽  
Sokouri A. Edwige ◽  
Mathurin Koffi ◽  
Estelle Mewamba ◽  
Gustave Simo ◽  
...  
Keyword(s):  
Schistosoma Mansoni ◽  
Ivory Coast ◽  
Worm Burden ◽  
Infection Intensity ◽  
Case Control ◽  
Control Analysis ◽  
Nucleotide Polymorphisms ◽  
Case Control Studies ◽  
African Countries ◽  
Family Based

Background: Approximately 25% of the risk of Schistosoma mansoni is associated with host genetic variation. We will test 24 candidate genes, mainly in the Th2 and Th17 pathways, for association with S. mansoni infection intensity in four African countries, using family based and case-control approaches. Methods: Children aged 5-15 years will be recruited in S. mansoni endemic areas of Ivory Coast, Cameroon, Uganda and the Democratic Republic of Congo (DRC). We will use family based (study 1) and case-control (study 2) designs. Study 1 will take place in Ivory Coast, Cameroon, Uganda and the DRC. We aim to recruit 100 high worm burden families from each country except Uganda, where a previous study recruited at least 40 families. For phenotyping, cases will be defined as the 20% of children in each community with heaviest worm burdens as measured by the circulating cathodic antigen (CCA) assay. Study 2 will take place in Uganda. We will recruit 500 children in a highly endemic community. For phenotyping, cases will be defined as the 20% of children with heaviest worm burdens as measured by the CAA assay, while controls will be the 20% of infected children with the lightest worm burdens. Deoxyribonucleic acid (DNA) will be genotyped on the Illumina H3Africa SNP (single nucleotide polymorphisms) chip and genotypes will be converted to sets of haplotypes that span the gene region for analysis. We have selected 24 genes for genotyping that are mainly in the Th2 and Th17 pathways and that have variants that have been demonstrated to be or could be associated with Schistosoma infection intensity.   Analysis: In the family-based design, we will identify SNP haplotypes disproportionately transmitted to children with high worm burden. Case-control analysis will detect overrepresentation of haplotypes in extreme phenotypes with correction for relatedness by using whole genome principal components.

scholarly journals Candidate gene family-based and case-control studies of susceptibility to high Schistosoma mansoni worm burden in African children: a protocol

2021 ◽  
Vol 4 ◽  
pp. 36
Author(s):  
Oscar A. Nyangiri ◽  
Sokouri A. Edwige ◽  
Mathurin Koffi ◽  
Estelle Mewamba ◽  
Gustave Simo ◽  
...  
Keyword(s):  
Schistosoma Mansoni ◽  
Ivory Coast ◽  
Worm Burden ◽  
Infection Intensity ◽  
Case Control ◽  
Control Analysis ◽  
Nucleotide Polymorphisms ◽  
Case Control Studies ◽  
African Countries ◽  
Family Based

Background: Approximately 25% of the risk of Schistosoma mansoni is associated with host genetic variation. We will test 24 candidate genes, mainly in the Th2 and Th17 pathways, for association with S. mansoni infection intensity in four African countries, using family based and case-control approaches. Methods: Children aged 5-15 years will be recruited in S. mansoni endemic areas of Ivory Coast, Cameroon, Uganda and the Democratic Republic of Congo (DRC). We will use family based (study 1) and case-control (study 2) designs. Study 1 will take place in Ivory Coast, Cameroon, Uganda and the DRC. We aim to recruit 100 high worm burden families from each country except Uganda, where a previous study recruited at least 40 families. For phenotyping, cases will be defined as the 20% of children in each community with heaviest worm burdens as measured by the circulating cathodic antigen (CCA) assay. Study 2 will take place in Uganda. We will recruit 500 children in a highly endemic community. For phenotyping, cases will be defined as the 20% of children with heaviest worm burdens as measured by the CAA assay, while controls will be the 20% of infected children with the lightest worm burdens. Deoxyribonucleic acid (DNA) will be genotyped on the Illumina H3Africa SNP (single nucleotide polymorphisms) chip and genotypes will be converted to sets of haplotypes that span the gene region for analysis. We have selected 24 genes for genotyping that are mainly in the Th2 and Th17 pathways and that have variants that have been demonstrated to be or could be associated with Schistosoma infection intensity.   Analysis: In the family-based design, we will identify SNP haplotypes disproportionately transmitted to children with high worm burden. Case-control analysis will detect overrepresentation of haplotypes in extreme phenotypes with correction for relatedness by using whole genome principal components.

STK15 F31I polymorphisms and uterine cancer risk: A case-control analysis

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 5511-5511
Author(s):  
M. R. Milam ◽  
J. Gu ◽  
H. Yang ◽  
J. Celestino ◽  
W. Wu ◽  
...  
Keyword(s):  
Cancer Risk ◽  
Smoking Status ◽  
Uterine Cancer ◽  
Case Control ◽  
Control Population ◽  
Cancer Center ◽  
Control Analysis ◽  
Nucleotide Polymorphisms ◽  
Case Control Studies ◽  
Increased Risk

5511 Background: STK15 is a serine threonine kinase which assists chromosomal separation and mitotic spindle stability through interaction with the centrosome during mitosis. STK15 polymorphisms have been associated with an increased risk for breast cancer in several case-control studies. We hypothesized that STK15 polymorphisms might modulate risk of uterine cancer. Methods: Uterine cancer patients treated at M. D. Anderson Cancer Center were identified from the tumor bank database from January 1, 2000 to June 30, 2006. Two common STK15 single nucleotide polymorphisms (SNPs), F31I (T/A) and V57I (G/A), were genotyped in patients with uterine cancer and in a control population matched for age, race, and smoking status. Odds ratios (OR) and 95% confidence intervals (CI) were obtained using unconditional logistic regression analysis. Results: A total of 193 women with uterine cancer and 218 controls were genotyped for both SNPs. After adjustment for age, race, and smoking status for the F31I SNP, the homozygous variant genotype (AA) was associated with a significantly increased uterine cancer risk (OR 10.2; 95% CI 2.23–46.5). Individuals with the heterozygous genotype (TA) and a history of tobacco use also exhibited an increased risk for uterine cancer (OR 2.63; 95% CI 1.20–5.76). For the V57I SNP, neither the homozygous (AA) nor the heterozygous (GA) variant genotypes were associated with significantly altered risk for uterine cancer (OR 0.76; 95% CI 0.18–3.25 and OR 0.88; 95% CI 0.52–1.49). Conclusions: Our study demonstrates that STK15 F31I SNP is associated with an increased risk for uterine cancer. Confirmation of this pilot study is needed in a larger case-control population to evaluate this genetic variant with other known risk factors for uterine cancer. No significant financial relationships to disclose.

scholarly journals Meta-analysis reveals significant association between FOXP3 polymorphisms and susceptibility to Graves’ disease

2021 ◽  
Vol 49 (4) ◽  
pp. 030006052110041
Author(s):  
Guiqin Tan ◽  
Xin Wang ◽  
Guangbing Zheng ◽  
Juan Du ◽  
Fangyu Zhou ◽  
...  
Keyword(s):  
Meta Analysis ◽  
Pooled Analysis ◽  
Case Control ◽  
Graves Disease ◽  
Nucleotide Polymorphisms ◽  
Case Control Studies ◽  
China National Knowledge Infrastructure ◽  
Asian Populations ◽  
Knowledge Infrastructure ◽  
Independent Case

Objective This meta-analysis aimed to determine the associations between the rs3761547, rs3761548, and rs3761549 single-nucleotide polymorphisms (SNPs) of the forkhead box P3 ( FOXP3) gene and susceptibility to Graves’ disease (GD). Methods Case–control studies with information on the associations between the rs3761547, rs3761548, and rs3761549 FOXP3 SNPs and GD published before 01 May 2020 were identified in the PubMed, Embase, Web of Science, and China National Knowledge Infrastructure databases. Data from the studies were analyzed using RevMan version 5.3. Results Seven independent case–control studies including 4051 GD patients and 4569 controls were included in the meta-analysis. The overall pooled analysis indicated that FOXP3/rs3761548 and FOXP3/rs3761549 polymorphisms were significantly associated with GD susceptibility (rs3761548: A vs. C, odds ratio [OR] = 1.32, 95% confidence interval [CI] 1.05–1.67; rs3761549: TT vs. CC, OR = 1.98, 95%CI 1.49–2.65; (TT + TC) vs. CC, OR = 1.44, 95%CI 1.11–1.88). In contrast, the FOXP3/rs3761547 polymorphism was not associated with GD susceptibility. Subgroup analysis according to ethnicity showed that rs3761548 was associated with GD in Asians but not in Caucasians, whereas rs3761549 was associated in both Asians and Caucasians. Conclusion This meta-analysis demonstrated that FOXP3/rs3761548 and FOXP3/rs3761549 SNPs were significantly associated with susceptibility to GD, at least in Asian populations.

scholarly journals Associations between autistic-like traits and polymorphisms in NFKBIL1

2019 ◽  
Vol 31 (04) ◽  
pp. 220-229 ◽  
Author(s):  
Nina Strenn ◽  
Daniel Hovey ◽  
Lina Jonsson ◽  
Henrik Anckarsäter ◽  
Sebastian Lundström ◽  
...  
Keyword(s):  
Immune System ◽  
Language Impairment ◽  
Genome Wide Association Study ◽  
Neuropsychiatric Symptoms ◽  
Autism Spectrum ◽  
Case Control ◽  
Control Analysis ◽  
Nucleotide Polymorphisms ◽  
Genotype Frequencies ◽  
Case Control Analysis

AbstractObjective:The immune system has been suggested to be associated with neuropsychiatric disorders; for example, elevated levels of cytokines and the inflammation-related transcription factor nuclear factor kappa-B (NF-κB) have been reported in individuals with autism spectrum disorder (ASD). The aim of this study was to investigate possible associations between autistic-like traits (ALTs) and single nucleotide polymorphisms (SNPs) in NFKB1 (encoding a subunit of the NF-κB protein complex) and NF-κB inhibitor-like protein 1 (NFKBIL1).Methods:The study was conducted in a cohort from the general population: The Child and Adolescent Twin Study in Sweden (CATSS, n = 12 319, 9–12 years old). The subjects were assessed by the Autism-Tics, ADHD, and Other Comorbidities Inventory. Five SNPs within the two genes were genotyped (NFKBIL1: rs2857605, rs2239707, rs2230365 and rs2071592; NFKB1: rs4648022).Results:We found significant associations for two SNPs in NFKBIL1: rs2239707 showed a significant distribution of genotype frequencies in the case-control analysis both for all individuals combined and in boys only, and rs2230365 was significantly associated with the ALTs-module language impairment in boys only. Furthermore, we found nominal association in the case-control study for rs2230365, replicating earlier association between this SNP and ASD in an independent genome-wide association study.Conclusion:The shown associations between polymorphisms in NFKBIL1 and ALTs are supporting an influence of the immune system on neuropsychiatric symptoms.

scholarly journals Egg excretion in the initial phase of experimental murine schistosomiasis mansoni: stability and association with worm burden

1995 ◽  
Vol 37 (4) ◽  
pp. 325-329 ◽  
Author(s):  
Regina Lunardi Rocha ◽  
Manoel Otávio da Costa Rocha ◽  
Ênio Roberto Pietra Pedroso ◽  
Enrico Antônio Colosimo ◽  
Paulo Marcos Zech Coelho
Keyword(s):  
Schistosoma Mansoni ◽  
Initial Phase ◽  
Worm Burden ◽  
Chronic Phase ◽  
Infection Intensity ◽  
Schistosome Infection ◽  
Schistosomiasis Mansoni

Stability of faecal egg excretion and correlation with results related to worm burden at the initial phase of schistosomiasis mansoni were observed in two groups of mice infected with different Schistosoma mansoni cercarial burdens, by means of analysis of quantitative parasitological studies and schistosome counts after perfusion. Thus, it may be stated that few quantitative parasitological stool examinations could be sufficient to express the infection intensity at the initial phase, on the same grounds that it was already demonstrated at the chronic phase. Furthermore, it is confirmed that the use of the number of eggs passed in the faeces as a tool to estimate the worm burden at the initial phase of schistosome infection is adequate.

scholarly journals Neurocognitive performance in family-based and case-control studies of schizophrenia

2015 ◽  
Vol 163 (1-3) ◽  
pp. 17-23 ◽  
Author(s):  
Ruben C. Gur ◽  
David L. Braff ◽  
Monica E. Calkins ◽  
Dorcas J. Dobie ◽  
Robert Freedman ◽  
...  
Keyword(s):  
Case Control ◽  
Neurocognitive Performance ◽  
Case Control Studies ◽  
Family Based

Investigation of Leptin and its receptor (LEPR) for single nucleotide polymorphisms in colorectal cancer: A case-control study involving 2,306 subjects.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e16100-e16100
Author(s):  
Jing Lin ◽  
Yu Chen ◽  
Bin Lan ◽  
Zeng-qing Guo ◽  
Wei-feng Tang ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Case Control Study ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Case Control Studies ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Subgroup Analyses ◽  
Control Study

e16100 Background: Colorectal cancer is a leading cause of cancer deaths, with poor prognosis. Some studies have reported that obesity and overweight are risk factor for the development of CRC. Leptin ( LEP) and its receptor ( LEPR) single nucleotide polymorphisms (SNPs) might regulate energy balance and be implicated in the development of CRC. The aim of this case-control study was to assess the association of LEP rs2167270 G > A, rs7799039 A > G, LEPR rs6588147 G > A, rs1137100 G > A and rs1137101 G > A SNPs with susceptibility to CRC in Eastern Chinese Han population. Methods: 1,003 CRC cases and 1,303 matched controls was compared. Five functional SNPs in LEP and LEPR genes were chosen to evaluate the correlation of these chosen SNPs with CRC susceptibility. We used the SNPscan genotyping assay to genotype LEP and LEPR SNPs. Results: A significantly decreased risk of CRC was found to be associated with the LEPR rs6588147 polymorphism (GA vs. GG: crude P= 0.007 and GA/AA vs. GG: crude P= 0.018). With adjustments for risk factors (e.g. age, gender, drinking, BMI and smoking), these associations were not changed. In subgroup analyses, the association of LEP rs2167270 with a decreased risk of CRC was found in the ≥61 years old subgroup. For LEPR rs1137100, the association of this SNP with an increased susceptibility of CRC was found in the BMI < 24 kg/m2 subgroup. In subgroup analyses for LEPR rs6588147, we identified that this locus also decreased the susceptibility of CRC in the male subgroup, < 61 years old subgroup, never smoking subgroup and never drinking subgroup. For LEPR rs1137101, the relationship of this polymorphism with a decreased susceptibility to CRC was found in the never drinking subgroup. Conclusions: The present study highlights that LEPR rs6588147, rs1137101 and LEP rs2167270 may decrease the risk of CRC. However, LEPR rs1137100 is associated with susceptibility to CRC. Further case-control studies with larger sample sizes should be conducted to validate our findings.

scholarly journals Nicotinic Acetylcholine Receptor α4 Subunit Gene Variation Associated with Chinese Han Patients with Attention Deficit Hyperactivity Disorder

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
J. Weidong ◽  
H. Xuezhu ◽  
G. Tianyou ◽  
Y. Chuang ◽  
L. Qianqian ◽  
...  
Keyword(s):  
Acetylcholine Receptor ◽  
Nicotinic Acetylcholine Receptor ◽  
Control Sample ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Nicotinic Acetylcholine ◽  
Gene Variation ◽  
Family Based ◽  
And Control

Previous pharmacological, human genetical, and animal models have implicated the nicotinic acetylcholine receptor α4 subunit (CHRNA4) gene in the pathogenesis of ADHD. The objective of this study is to examine genetic association between single nucleotide polymorphisms (SNPs) in the CHRNA4 gene (rs2273502, rs1044396, rs1044397 and rs3827020 loci) and ADHD. Both case-control and family-based design were used in this study. Children aged 6 to 16 years were interviewed and assessed with the CBCL and CPRS-R to identify probands. No significant differences in frequency distribution of genotypes or alleles between the case and control groups were found. However, further haplotype analyses showed CCGG haplotype on risk for ADHD in 164 case-control sample and TDT analysis suggested that the allele C of rs2273502 over-transferred in 98 ADHD parent-offspring trios. Our findings suggest that CHRNA4 gene may play a role in the pathogenesis of ADHD, and further work is necessary to replicate and confirm what role the CHRNA4 gene may play in the etiology and pathogenesis of ADHD in large independent samples.

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