scholarly journals Association between PNPLA8 gene polymorphism and schizophrenia in male patients

2013 ◽  
Vol 19 (3) ◽  
pp. 2
Author(s):  
Qiong Yu ◽  
Yaqin Yu ◽  
Jieping Shi ◽  
Hong Sang
Keyword(s):  
Phospholipase A2 ◽  
Phospholipid Metabolism ◽  
Genotypic Frequency ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Neuropsychiatric Diseases ◽  
Hardy Weinberg Equilibrium ◽  
Male Patients ◽  
Calcium Independent Phospholipase A2 ◽  
The Brain

<p>Abnormal phospholipid metabolism in the brain plays an important role in neuropsychiatric diseases. Phospholipase A2 is crucial for maintaining normal neuro-physiological function. The aim of this study was to investigate the association between polymorphisms of the membrane-associated calcium-independent phospholipase A2 gamma (PNPLA8) gene and schizophrenia in Han Chinese in north China. The PCR-based ligase detection reaction was applied to detect 3 single nucleotide polymorphisms (SNPs) in the PNPLA8 gene among 201 Chinese pedigrees. The genotypic frequency of the PNPLA8 polymorphisms did not deviate from the Hardy-Weinberg equilibrium both in affected offspring and parental groups. Haploid relative risk (HRR) and transmission disequilibrium tests (TDT) showed that the 3 SNPs were not associated with schizophrenia (<em>p</em>&gt;0.05), but further analysis with TDT showed that the rs40876 polymorphism was associated with schizophrenia in males (<em>χ<sup>2</sup></em>=4.667, <em>p</em>=0.031). Our data suggest that rs40876 in PNPLA8 may be associated with schizophrenia in males.</p><div> </div>

Association Between Two Single-nucleotide Polymorphism of TAAR1 Gene and Suicide Attempts

2017 ◽  
Vol 41 (S1) ◽  
pp. S103-S103
Author(s):  
A. Zdanowicz ◽  
A. Sakowicz ◽  
E. Kusidel ◽  
P. Wierzbinski
Keyword(s):  
Suicide Attempts ◽  
Statistical Tests ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Hardy Weinberg Equilibrium ◽  
The Mean ◽  
Competing Interest ◽  
G Protein Coupled ◽  
The Brain

IntroductionTAAR1 is a G protein-coupled receptor expressed broadly throughout the brain. Recently, TAAR1 has been demonstrated to be an important modulator of the dopaminergic, serotonergic and glutamatergic activity.AimsAssessment of the relation between two single-nucleotide polymorphisms of TAAR1 gene, suicide attempts and alcohol abuse.MethodsA total of 150 Polish patients were included, 59 subjects after suicide attempt vs. 91 controls. The chosen SNPs (rs759733834 and rs9402439) were studied using RFLP-PCR methods. The Hardy-Weinberg equilibrium was tested in control group.Statistical testsChi2 or Yeates Chi2 Test were used.ResultsThe mean age of study subjects and controls was: 38 ± 12.3 and 42 ± 12.8 respectively; 49% study males vs. 54% male controls. We did not observe the association between the carriage of the genotypes GG, GA and AA of rs759733834 polymorphisms in either of the groups. The distribution of genotypes in respect to rs9402439 polymorphism (CC, CG, GG) was also insignificant. Among patients with alcohol dependence, the frequency G allele of rs9402439 polymorphism was lower compared to non-addicted ones (27 vs. 47%) P < 0.01.ConclusionsTAAR1 polymorphisms rs759733834 and rs9402439 are not related to suicide attempts. The carriage of allele G of rs9402439 polymorphism is related to lower risk of alcohol addiction OR 0.40 95%Cl 0.20–0.81. To our knowledge, this is the first study on the TAAR1 receptor and the risk of suicide and it might offer a new insight into genetic etiology of TAAR1 receptor.Disclosure of interestThe authors have not supplied their declaration of competing interest.

CHECKING THE ASSOCIATION OF FIVE SNP WITH UNVALVED ATRIAL FIBRILLATION IN PATIENTS WITH ACUTE CORONARY SYNDROME

2021 ◽  
pp. 42-52
Author(s):  
Lozhkina N.G. ◽  
Gurazheva A.A. ◽  
Maksimov V.N.
Keyword(s):  
Atrial Fibrillation ◽  
Acute Coronary Syndrome ◽  
Acute Coronary Syndrome Patient ◽  
Study Groups ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Coronary Syndrome ◽  
Increased Risk ◽  
Male Patients ◽  
European Society Of Cardiology

Вackground. It is known that 5–21% of patients with acute coronary syndrome (ACS) develop atrial fibrillation (AF), which entails an increased risk of recurrence of myocardial infarction, heart failure, and increased mortality. The genetic predisposition to AF has been actively studied in recent years, but the data on the association of certain single nucleotide polymorphisms (SNPs) in the development of AF are contradictory, which determines the relevance of this study. Purpose of the study. To study five SNPs for associations with the development of non-valvular atrial fibrillation in patients with acute coronary syndrome Patient Characterization and Research Methods. The study included female and male patients not younger than 18 years old with ACS and AF (n = 133) and ACS without AF (n = 133) ACS was diagnosed according to the criteria of the European Society of Cardiology (2015; 2017). The study was approved by the Ethics Committee (Minutes No. 102 dated November 24, 2017). The observation period was 12 months. In addition to the standard examination, all patients underwent a SNP study: rs6795970 (Scn10a), rs2200733 (4th stage), rs11556924 (ZC3HC1), rs599839 (PSRC1), rs10824026 (10th stage). Statistical analysis was performed using Statistica 12.1 StatSoft. Results. The results of the rs599839 study showed that the GG genotype was significantly less common in the ACS + AF group compared to the ACS group without AF (OR 0.11 CI 95% 0.01; 0.86 p = 0.0163). A reliable connection was lost when divided by sex and by age (older and younger than 55). Allele G rs599839 significantly correlates with AF (p = 0.0043; OR 1.56). The T allele rs11556924 is highly reliably associated with a predisposition to atrial fibrillation (p = 0.0043; OR 1.93). Genotype GG rs10824026 is conditionally protective in terms of the risk of AF in patients with ACS. For rs6795970 (p = 0.290) and rs2200733 (p = 0.30), there were no statistically significant differences between the study groups. Conclusion. The study verified the association of rs6795970 (Scn10a), rs2200733, rs11556924, rs599839, rs10824026 with AF associated with ACS. The genotypes GG rs599839 and GG rs10824026 were found to be conditionally protective in relation to the risk of AF in patients with ACS.

scholarly journals ADIPOQ single nucleotide polymorphisms and breast cancer in northeastern Mexican women

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Ricardo M. Cerda-Flores ◽  
Karen Paola Camarillo-Cárdenas ◽  
Gabriela Gutiérrez-Orozco ◽  
Mónica Patricia Villarreal-Vela ◽  
Raquel Garza-Guajardo ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Mexican Women ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Hardy Weinberg Equilibrium

Abstract Background Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequency of single nucleotide polymorphisms (SNPs) of ADIPOQ in Mexican women with BC and to determine if they show an association with it. Methods DNA samples from 397 patients and 355 controls were tested for the ADIPOQ gene SNPs: rs2241766 (GT) and rs1501299 (GT) by TaqMan allelic discrimination assay. Hardy–Weinberg equilibrium (HWE) was tested. Multiple SNP inheritance models adjusted by age and body mass index (BMI) were examined for the SNP rs1501299. Results We found that in the frequency analysis of rs1501299 without adjusting the BMI and age, the genotype distribution had a statistically significant difference (P = 0.003). The T allele was associated with a BC risk (OR, 1.99; 95% CI 1.13–3.51, TT vs. GG; OR, 1.53; 95% CI 1.12–2.09, GT vs. GG). The SNP rs2241766 was in HW disequilibrium in controls. In conclusion, the rs1501299 polymorphism is associated with a BC risk. Conclusions Identification of the genotype of these polymorphisms in patients with BC can contribute to integrate the risk profile in both patients and their relatives as part of a comprehensive approach and increasingly more personalized medicine.

scholarly journals Analysis of Serum Cytokines and Single-Nucleotide Polymorphisms of SOD1, SOD2, and CAT in Erysipelas Patients

2017 ◽  
Vol 2017 ◽  
pp. 1-14 ◽  
Author(s):  
Charles C. Emene ◽  
Irina E. Kravchenko ◽  
Gulnaz I. Aibatova ◽  
Albert A. Rizvanov
Keyword(s):  
Body Part ◽  
Serum Levels ◽  
Lower Limbs ◽  
Nucleotide Polymorphisms ◽  
Serum Cytokine ◽  
Single Nucleotide ◽  
Radical Production ◽  
Cytokine Levels ◽  
Group A ◽  
Male Patients

Increased free radical production had been documented in group A (β-hemolytic) streptococcus infection cases. Comparing 71 erysipelas patients to 55 age-matched healthy individuals, we sought for CAT, SOD1, and SOD2 single polymorphism mutation (SNPs) interactions with erysipelas’ predisposition and serum cytokine levels in the acute and recovery phases of erysipelas infection. Whereas female patients had a higher predisposition to erysipelas, male patients were prone to having a facial localization of the infection. The presence of SOD1 G7958, SOD2 T2734, and CAT C262 alleles was linked to erysipelas’ predisposition. T and C alleles of SOD2 T2734C individually were linked to patients with bullous and erythematous erysipelas, respectively. G and A alleles of SOD1 G7958A individually were associated with lower limbs and higher body part localizations of the infection, respectively. Serum levels of IL-1β, CCL11, IL-2Rα, CXCL9, TRAIL, PDGF-BB, and CCL4 were associated with symptoms accompanying the infection, while IL-6, IL-9, IL-10, IL-13, IL-15, IL-17, G-CSF, and VEGF were associated with predisposition and recurrence of erysipelas. While variations of IL-1β, IL-7, IL-8, IL-17, CCL5, and HGF were associated with the SOD2 T2734C SNP, variations of PDFG-BB and CCL2 were associated with the CAT C262T SNP.

scholarly journals Detection of single nucleotide polymorphisms at major prolificacy genes in the Mehraban sheep and association with litter size

2018 ◽  
Vol 18 (3) ◽  
pp. 685-698 ◽  
Author(s):  
Reza Talebi ◽  
Ahmad Ahmadi ◽  
Fazlollah Afraz ◽  
Julien Sarry ◽  
Florent Woloszyn ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Litter Size ◽  
Potential Role ◽  
Chromosome 6 ◽  
The Novel ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Hardy Weinberg Equilibrium ◽  
Gdf9 Gene

Abstract The present study aimed to investigate the presence of polymorphisms at four known genes controlling ovine prolificacy i.e. BMP15, GDF9, BMPR1B and B4GALNT2 in a sample of 115 Iranian Mehraban ewes and their association with litter size (LS) and lambs’ birth weight (BW) traits. Using Sanger sequencing of exons and polymorphism specific genotyping, ten SNPs (Single Nucleotide Polymorphisms) were observed in only two genes, GDF9 and BMPR1B. Seven SNPs were found in the GDF9 gene on the chromosome 5. Among them, six were already described in the coding sequence, and a new one (g.41840985C>T) was found in the 3’UTR. In the BMPR1B gene on the chromosome 6, three novel SNPs were detected in the exon 7 (g.29382184G>A; g.29382337G>A and g.29382340G>A). Allelic frequencies were established for six SNPs among the ten identified and they were in Hardy-Weinberg equilibrium. A significant association was found between the novel SNPs found in the exon 7 of BMPR1B and LS. Present results indicate the potential role of the BMPR1B locus in controlling prolificacy of Mehraban sheep and provide genetic markers for further exploitation in selection to improve reproductive efficiency.

scholarly journals Association of genetic variants in STAT5B gene with milk performance and mastitis related traits in dairy cattle

2021 ◽  
Vol 91 (5) ◽  
pp. 459-471
Author(s):  
Nawab Ali ◽  
◽  
Sadaf Niaz ◽  
Irfan Khattak ◽  
Naimat U. Khan ◽  
...  
Keyword(s):  
Dairy Cattle ◽  
Association Analysis ◽  
Milk Composition ◽  
Clinical Mastitis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Exon 2 ◽  
Holstein Friesian ◽  
Hardy Weinberg Equilibrium ◽  
Milk Performance

Udder performance and health are important traits in dairy cattle worldwide. The present study aimed to explore the association of single nucleotide polymorphisms (SNPs) in the STAT5B gene in dairy cattle with milk performance and mastitis related traits. The study included 201 cows of three pure breeds (i.e. Holstein Friesian, Jersey and Achai) and two crossbred cattle at four established dairy farms in Khyber Pakhtunkhwa, Pakistan. The milk samples were analysed for somatic cell count (SCC) and milk composition (i.e. fat , protein and lactose percentages). The generalized linear model was deployed for association analysis using SAS. The pool DNA sequencing showed four (three synonymous and a 3/ UTR) SNPs in STAT5B. These SNPs were further validated in all DNA samples using SNaPshot assay. The breed-wise analysis showed that most of the SNPs were consistent with Hardy-Weinberg equilibrium (P>0.05). The association analysis revealed a significantly higher protein percentage in TT genotype and lower SCC in CC genotypes of SNP 1 (exon 2, C>T), whereas in SNP 2 (exon 16, T>C) the TT genotypes revealed significantly lower SCC and SCS compared with other genotypes (P<0.05). SNP 4 (3/ UTR, C>T) showed significantly lower SCC and frequency of clinical mastitis in the heterozygous (CT) genotype compared to the homozygous genotypes. The in silico predictions revealed changes in the RNA secondary structure for SNP 2 and SNP 3. The study suggests that STAT5B should be considered as a candidate gene, and the variants identified as useful genetic markers for improved milk composition and udder health.

scholarly journals Development a Set of 46 SNP Markers for the Yellow Catfish (Tachysurus Fulvidraco)

2021 ◽  
Author(s):  
Huaxing Zhou ◽  
Tingshuang Pan ◽  
Huan Wang ◽  
He Jiang ◽  
Jun Ling ◽  
...  
Keyword(s):  
Snp Markers ◽  
Whole Genome ◽  
Nucleotide Polymorphisms ◽  
Yellow Catfish ◽  
Genome Resequencing ◽  
Single Nucleotide ◽  
Expected Heterozygosity ◽  
Hardy Weinberg Equilibrium ◽  
Whole Genome Resequencing ◽  
Tachysurus Fulvidraco

Abstract The whole genome resequencing was used to develop single nucleotide polymorphisms (SNP) markers for the yellow catfish (Tachysurus fulvidraco). A total of 46 SNP markers were selected from 5550676 genotyping markers which distributed on 26 chromosomes. Of the 46 SNPs analyzed, 35 SNPs conformed to Hardy-Weinberg equilibrium. The observed and expected heterozygosity of these markers ranged from 0.2519 to 0.771 and from 0.265 to 0.5018, respectively. This set of markers will be of great useful for population genetics of the yellow catfish.

Intron-specific Single Nucleotide Polymorphisms of Fat Mass and Obesity- Associated Gene in Obese and Overweight Individuals of the Indian Adult Population- A Pilot Study

2019 ◽  
Vol 16 (1) ◽  
pp. 84-94
Author(s):  
Aakash Reddy ◽  
Katari Venkatesh ◽  
Sayani Sahu ◽  
Pallavi Sinha Roy ◽  
Konkona Datta ◽  
...  
Keyword(s):  
Pilot Study ◽  
Single Nucleotide Polymorphisms ◽  
Fat Mass ◽  
Indian Population ◽  
Detection System ◽  
Adult Population ◽  
Genotypic Frequency ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk

Background: The Fat mass and obesity-associated gene (FTO) and its involvement in weight gain and obesity is well-known. However, no reports have been published on the Indian population regarding the relationship between single nucleotide polymorphisms (SNPs) in its intronic region and obesity. The aim of this pilot study was to evaluate the frequency and association of SNPs in intron-1 of the FTO gene in obese and overweight Indian adults. Methods: This study group consisted of 80 adults, aged 23.5 ± 8.9 yr, with a mean BMI of 28.8 ± 6.2 kg/m2. Genomic DNA was isolated, exons1-3 & intron1 of FTO were amplified using polymerase chain reaction and sequenced by ABI sequencing detection system. The reported SNPs rs1420185, rs8050136, rs1121980 and rs55872725 were checked for their presence or absence in this group of the adult Indian population. Results: No mutations were found in the exonic sequence of FTO, however, the association of rs1420185, rs8050136, rs1121980 and rs55872725 SNPs was identified in this population. The genotypic frequency at FTO rs8050136 was 32.2% for C>A, at rs55872725 it was 45.7% for C>T, at rs1420185 it was 27.1% for T>C and at rs1121980 it was 30.5% for G>A. All four SNPs in combination were observed in 6 participants (10.2%), all of whom were found to be either obese or overweight. Conclusion: These findings indicate that Indians with these SNPs are most likely to be at increased risk of obesity.

scholarly journals Highly heritable and functionally relevant breed differences in dog behaviour

2019 ◽  
Vol 286 (1912) ◽  
pp. 20190716 ◽  
Author(s):  
Evan L. MacLean ◽  
Noah Snyder-Mackler ◽  
Bridgett M. vonHoldt ◽  
James A. Serpell
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Similarity ◽  
Genetic Architecture ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Biological Basis ◽  
Trait Variance ◽  
Breed Differences ◽  
The Brain ◽  
Shed Light

Variation across dog breeds presents a unique opportunity to investigate the evolution and biological basis of complex behavioural traits. We integrated behavioural data from more than 14 000 dogs from 101 breeds with breed-averaged genotypic data ( n = 5697 dogs) from over 100 000 loci in the dog genome. We found high levels of among-breed heritability for 14 behavioural traits (the proportion of trait variance attributable to genetic similarity among breeds). We next identified 131 single nucleotide polymorphisms associated with breed differences in behaviour, which were found in genes that are highly expressed in the brain and enriched for neurobiological functions and developmental processes, suggesting that they may be functionally associated with behavioural differences. Our results shed light on the heritability and genetic architecture of complex behavioural traits and identify dogs as a powerful model in which to address these questions.

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