Dataset Information

Genetic association between cluster of differentiation 86 variations and sepsis risk: A case-control study.

ABSTRACT: The aim of this study was to investigate the correlation between cluster of differentiation 86 (CD86) gene rs1129055 and rs2715267 single nucleotide polymorphisms and sepsis susceptibility.One hundred twenty-five sepsis patients and 120 healthy controls were enrolled in this case-control study. CD86 polymorphisms rs1129055 and rs2715267 were genotyped through polymerase chain reaction-restriction fragment length polymorphism approach. Chi-square test was used to analyze differences in genotype and allele frequencies of the 2 polymorphisms between case and control groups. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to present the association strength of the polymorphisms with sepsis susceptibility.AA genotype and A allele frequencies of CD86 rs1129055 were significantly lower in sepsis patients than in healthy controls (P??.05).AA genotype and A allele of CD86 polymorphism rs1129055 might be correlated with decreased sepsis susceptibility in Chinese Han population, but not rs2715267. Further study should be performed to verify our findings.

SUBMITTER: Zou X

PROVIDER: S-EPMC6824797 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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Genetic association between cluster of differentiation 86 variations and sepsis risk: A case-control study.

Zou Xiaofang X Cai Jingning J Li Bin B Wu Shijian S

Medicine 20191001 43

The aim of this study was to investigate the correlation between cluster of differentiation 86 (CD86) gene rs1129055 and rs2715267 single nucleotide polymorphisms and sepsis susceptibility.One hundred twenty-five sepsis patients and 120 healthy controls were enrolled in this case-control study. CD86 polymorphisms rs1129055 and rs2715267 were genotyped through polymerase chain reaction-restriction fragment length polymorphism approach. Chi-square test was used to analyze differences in genotype a ...[more]

PMID: 31651850

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Project description:BACKGROUND:To study the role of single nucleotide variants (SNVs) of genes related to preeclampsia in Pakistani pregnant women. METHODS:After ethical approval and getting informed consent; 250 pregnant women were enrolled and equally divided into two groups (125 preeclamptic cases and 125 normotensive pregnant women). Demographic details and medical history were recorded, and 10?ml blood sample was obtained for DNA extraction. The tetra-primer amplification refractory mutation system (ARMS) assays were developed for assessing the variants of three preeclampsia related genes; F5, MTHFR and VEGFA. An association of six SNVs; F5:c.1601G?>?A (rs6025), F5:c.6665A?>?G (rs6027), MTHFR: c.665C?>?T (rs1801133), MTHFR: c.1286A?>?C (rs1801131), VEGFA: c.-2055A?>?C (rs699947) and VEGFA: c.*237C?>?T (rs3025039) with preeclampsia was determined by using different genetic models. RESULTS:Genotyping of the SNVs revealed that patients with MTHFR:c.665C?>?T, have increased susceptibility to preeclampsia (CT versus CC/TT: OR?=?2.79, 95% CI?=?1.18-6.59; P*?=?0.046 and CT/TT vs CC: OR?=?2.91, 95% CI?=?1.29-6.57; P*?=?0.0497, in overdominant and dominant models, respectively), whereas F5:c.6665A?>?G, (A/G vs AA/GG: OR?=?0.42, 95% CI?=?0.21-0.84; P*?=?0.038 in overdominant model) and MTHFR:c.1286A?>?C, (CC versus AA: OR?=?0.36, 95% CI?=?0.18-0.72; P*?=?0.0392 in codominant model) have significantly decreased risk for preeclampsia. F5:c.1601G?>?A, VEGFA: c.-2055A?>?C and VEGFA: c.*237C?>?T variants revealed no relationship with the disease. CONCLUSION:This is the first case control study describing the protective role of F5:c.6665A?>?G against preeclampsia in any world population. In addition, the present study confirmed the association and role of MTHFR gene variations in the development of preeclampsia in Pakistani patients. Further genetic studies may be required to better understand the complex genetic mechanism of SNVs in preeclampsia related genes in pregnant women.

Project description:Cluster headache (CH) is a severe neurovascular disorder and an increasing amount of evidence points to a genetic contribution to this disease. When CH was first described, it was observed that alcohol may precipitate an attack during the active phase of the disease. The alcohol dehydrogenase 4 (ADH4) gene encodes an enzyme which contributes to the metabolization of alcohol and is, therefore, an interesting candidate gene for CH. Two Italian groups have reported association of the single nucleotide polymorphism (SNP) rs1126671 located in the ADH4 gene with an increased risk of CH in Italy. In addition, one of the groups found an association between the ADH4 SNP rs1800759 and CH.To perform a replication study on the ADH4 SNPs rs1126671 and rs1800759 in a large homogeneous Swedish case-control cohort in order to further investigate the possible contribution of ADH4 to CH.A total of 390 unrelated patients diagnosed with CH and 389 controls representing a general Swedish population were recruited to the study. DNA samples from patients and controls were genotyped for the two ADH4 SNPs rs1126671 and rs1800759 using quantitative real-time polymerase chain reaction. Statistical analyses of genotype, allele and haplotype frequencies for the two SNPs were performed and compared between patients and controls.For rs1126671, the minor allele frequency (A allele) was 32.8% (n?=?254) in controls compared with 31.9% (n?=?249) in CH patients. The minor allele frequency (A allele) of rs1800759 was 42.3% (n?=?324) in controls and 41.9% (n?=?327) in CH patients. Statistical analysis showed no significant differences in allele as well as in genotype or haplotype frequencies between the patient and control group for either SNP. This was also seen after stratifying the patient group for experiencing alcohol as a trigger factor.The data did not support an association of the ADH4 SNPs rs1126671 and rs1800759 with CH. A comparison with previous studies revealed variance in genotype, allele, and haplotype frequencies among the different populations which might contribute to the contradictory results. Although a significant association with CH in Swedish case-control group was not found, ADH4 as a candidate gene for CH could not be excluded.

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Dataset Information

Genetic association between cluster of differentiation 86 variations and sepsis risk: A case-control study.

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Genetic association between cluster of differentiation 86 variations and sepsis risk: A case-control study.

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