Analysis of Single Nucleotide Polymorphisms and Haplotypes in the Neuropeptide Y Gene: No Evidence for Association With Alcoholism in a German Population Sample

OBJECTIVES/SPECIFIC AIMS: Consequently, we have decided to evaluate the presence of single nucleotide polymorphism (SNP) previously associated with AF on a European-descent population in an attempt to first identify the most common loci present in the PRH population and then search for specific PRH SNP associated with AF. METHODS/STUDY POPULATION: A secondary analysis of a Puerto Rican population sample (n = 120) from The Pharmacogenetics of Warfarin in Puerto Ricans Study will be performed. We will implement data from the 1000 genome project to establish a control group of healthy PRH population. Will evaluate the presence of 111 known single nucleotide polymorphisms associated with AF in Europeans and determine the frequency in PRH population sample, and validate predictability of such SNPs. Using admixture informatic markers (AIM) analysis will determine the percentage of admixture by Yoruba, Native American and Iberic-European. Statistical analysis will include the use of the Pearson Product-Moment Coefficient correlation analysis and multivariate linear regression. For admixture will use Maximum Likelihood Estimation and Markov Chain Monte Carlo models. RESULTS/ANTICIPATED RESULTS: A higher frequency of AF associated European single nucleotide polymorphisms, and an overall higher percentage of European admixture will be associated with atrial fibrillation in Puerto Rican Hispanic patients. DISCUSSION/SIGNIFICANCE OF IMPACT: Our contributions here are expected to be the elucidation of European ancestry as a risk factor for AF. These contributions will be significant because it can provide a robust scientific basis for larger GWAS studies in the Puerto Rican community and further narrow down the mechanism specific to this population. Research in this subject could lead to early identification of patients with high risk of developing atrial fibrillation and further decrease incidence and disease burden in the PRH population. Puerto Rican Hispanics have an exclusive genetic admixture that makes for an appealing research subject that could deliver unique results.

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The effects of single nucleotide polymorphisms in Neuropeptide Y and prepro-orexin on growth in Nile tilapia (Oreochromis niloticus)

Aquaculture ◽

10.1016/j.aquaculture.2021.736974 ◽

2021 ◽

pp. 736974

Author(s):

Binglin Chen ◽

Wei Xiao ◽

Zhiying Zou ◽

Jinglin Zhu ◽

Dayu Li ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Neuropeptide Y ◽

Oreochromis Niloticus ◽

Nile Tilapia ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Nile Tilapia Oreochromis Niloticus

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Association of Single Nucleotide Polymorphisms of the MDM4 Gene With the Susceptibility to Breast Cancer in a Southeast Iranian Population Sample

Clinical Breast Cancer ◽

10.1016/j.clbc.2018.01.003 ◽

2018 ◽

Vol 18 (5) ◽

pp. e883-e891 ◽

Cited By ~ 8

Author(s):

Mohammad Hashemi ◽

Sara Sanaei ◽

Seyeh Mehdi Hashemi ◽

Ebrahim Eskandari ◽

Gholamreza Bahari

Keyword(s):

Breast Cancer ◽

Single Nucleotide Polymorphisms ◽

Population Sample ◽

Iranian Population ◽

Nucleotide Polymorphisms ◽

Single Nucleotide

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CYP2B6Gene Single-Nucleotide Polymorphisms in an Italian Population Sample and Relationship with Nicotine Dependence

Genetic Testing and Molecular Biomarkers ◽

10.1089/gtmb.2014.0239 ◽

2015 ◽

Vol 19 (2) ◽

pp. 103-107 ◽

Cited By ~ 6

Author(s):

Laura Natalia Riccardi ◽

Francesco Carano ◽

Carla Bini ◽

Stefania Ceccardi ◽

Gianmarco Ferri ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Nicotine Dependence ◽

Population Sample ◽

Italian Population ◽

Nucleotide Polymorphisms ◽

Single Nucleotide

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Frequency of single nucleotide polymorphisms of some immune response genes in a population sample from São Paulo, Brazil

Einstein (São Paulo) ◽

10.1590/s1679-45082011ao1866 ◽

2011 ◽

Vol 9 (3) ◽

pp. 359-366

Author(s):

Léa Campos de Oliveira ◽

Rajendranath Ramasawmy ◽

Jaila Dias Borges ◽

Maria Lucia Carnevale Marin ◽

Natalie Guida Muller ◽

...

Keyword(s):

Immune Response ◽

Single Nucleotide Polymorphisms ◽

Inflammatory Responses ◽

Population Sample ◽

Sao Paulo ◽

Genotype Distribution ◽

São Paulo ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Immune Response Genes

ABSTRACT Objective: To present the frequency of single nucleotide polymorphisms of a few immune response genes in a population sample from São Paulo City (SP), Brazil. Methods: Data on allele frequencies of known polymorphisms of innate and acquired immunity genes were presented, the majority with proven impact on gene function. Data were gathered from a sample of healthy individuals, non-HLA identical siblings of bone marrow transplant recipients from the Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, obtained between 1998 and 2005. The number of samples varied for each single nucleotide polymorphism analyzed by polymerase chain reaction followed by restriction enzyme cleavage. Results: Allele and genotype distribution of 41 different gene polymorphisms, mostly cytokines, but also including other immune response genes, were presented. Conclusion: We believe that the data presented here can be of great value for case-control studies, to define which polymorphisms are present in biologically relevant frequencies and to assess targets for therapeutic intervention in polygenic diseases with a component of immune and inflammatory responses.

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Search for genetic markers of predisposition to psoriasis and psoriatic arthritis

Medical Immunology (Russia) ◽

10.15789/1563-0625-sfg-2050 ◽

2020 ◽

Vol 22 (5) ◽

pp. 925-932

Author(s):

M. V. Smolnikova ◽

A. A. Barilo ◽

M. A. Malinchik ◽

S. V. Smirnova

Keyword(s):

Psoriatic Arthritis ◽

Single Nucleotide Polymorphisms ◽

Genetic Markers ◽

Population Sample ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Allelic Variants ◽

Psoriatic Disease ◽

Distribution Frequency

Psoriasis (PS) and psoriatic arthritis (PsA) are interrelated diseases that occur in approximately 30% of patients and are characterized by the presence of a systemic inflammatory reaction that occurs as a result of a violation of the functional state of the immune system. With the advent of new technologies, several new pro-inflammatory cytokines, such as IL-23, IL-31, and IL-33, which play an important role in the pathogenesis of the psoriatic process, have been discovered and characterized. It was determined that single nucleotide polymorphisms (SNPs) in the promoter regions of the IL23, IL31 and IL33 genes play an important role in controlling the expression of relevant cytokines involved in the immunopathogenesis of psoriatic disease. The purpose of the study: to analyze the distribution of genotypes and allelic variants of polymorphisms of the IL23A (rs2066808), IL23R (rs2201841), IL31 (rs7977932) and IL33 (rs7044343), in order to search for genetic markers of predisposition to psoriasis and psoriatic arthritis. Materials and methods. The genotyping of the patients was conducted: psoriasis (PS, n = 77), median age 31.0 years (27.0-43.0), psoriatic arthritis (PsA, n = 99), median age 49.0 years (39.0-56.0) and practically healthy residents of Krasnoyarsk (n = 103), a median age of 32.0 years (24.0-38.0). DNA was isolated from whole venous blood using a standard sorbent kit. Genotyping of single nucleotide polymorphisms IL23A (rs2066808), IL23R (rs2201841), IL31 (rs7977932), IL33 (rs7044343) was carried out using real-time PCR using specific oligonucleotide primers and fluorescentlylabeled probes. Results and discussion. The frequencies of allelic variants of the studied cytokine genes in the control group obtained during the study correspond to their distribution in Caucasoid populations – the alleles IL23A * T, IL23R * T, IL31 * C, IL33 * C prevail. When comparing the distribution frequency of allelic variants of the IL23A, IL23R, IL31, IL33 genes, we did not obtain statistically significant differences between patients and the control group. Conclusions. Despite the fact that when comparing the distribution frequency of allelic variants of the IL23A, IL23R, IL31, IL33 genes, we did not obtain statistically significant differences between the patients and the control group, there are results worthy of attention. So, in patients with PS, the frequency of the C * IL23A allelic variant (rs2066808) is lower than in the population sample, which may indicate its specific role in relation to the development of the disease. All this dictates the need to continue research with the assessment of other SNPs and increase the sample of patients in search of potential genetic markers of psoriatic disease.

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Role of polymorphisms of MSX1 and PAX9 genes in palatal impaction of maxillary canines

Journal of Orthodontics ◽

10.1177/1465312518820537 ◽

2019 ◽

Vol 46 (1) ◽

pp. 14-19 ◽

Cited By ~ 1

Author(s):

M S Anjana Devi ◽

Sridevi Padmanabhan

Keyword(s):

Single Nucleotide Polymorphisms ◽

Population Sample ◽

Nucleotide Polymorphisms ◽

Third Molars ◽

Single Nucleotide ◽

Gender And Age ◽

Chi Squared ◽

Different Populations ◽

Polymerase Chain

Objective: Maxillary canines are the second-most commonly impacted teeth. About two-thirds of the impacted maxillary canines are palatally impacted. Studies in the past have shown that 40% of cases with palatal impaction of maxillary canines presented with agenesis of third molars. Sporadic agenesis of third molars have been associated with polymorphisms in the MSX1 and PAX9 genes. The present study aims at evaluating the association between polymorphisms of PAX9, MSX1 and palatally impacted canines in a random population sample. Design and setting: Fifty individuals with palatally impacted maxillary canines and 50 gender and age-matched controls were included in this study. Methods: Single nucleotide polymorphisms (SNPs), rs12532 of MSX1 and rs2073247 of PAX9, were genotyped using polymerase chain reaction and restriction fragment length polymorphism. The significance of the differences among the groups was assessed by odds ratio and Chi-squared test with a 95% confidence interval Results: Single nucleotide polymorphisms rs12532 [MSX1] and rs 2073247 [PAX9] showed a statistically significant association with palatal impaction of maxillary canines. In addition, the combined presence of the AG/CT genotypes of these genes in an individual caused a significant increase in the risk for palatal impaction. Conclusion: These results suggest that the rs12532 and rs2073247 polymorphisms of genes MSX1 and PAX9 are positively associated with palatal impaction of maxillary canines. Future studies investigating various other SNPs of these genes in a larger sample of different populations could provide clinching details.

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