scholarly journals Investigating the Association of Orosomucoid 1-like 3 (ORMDL3) Gene Polymorphism (rs12603332) with Susceptibility to Allergic Asthma in Iranian Northwestern Azeri Population

2019 ◽  
Author(s):  
Ilghar Zeinaly ◽  
Naghmeh Vossoughi ◽  
Daniel Elieh Ali Komi ◽  
Tohid Kazemi ◽  
Zohreh Babaloo ◽  
...  
Keyword(s):  
Allergic Asthma ◽  
Fragment Length Polymorphism ◽  
Airway Remodeling ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Asthmatic Patients ◽  
Normal Individuals ◽  
Significant Difference ◽  
Pcr Method ◽  
Polymerase Chain

Orosomucoid 1-like 3 (ORMDL3) gene, located on chromosome 17q21, is an asthma candidate gene that encodes ORMDL3. This molecule has been reported to play a role in airway remodeling and bronchial hyper-responsiveness. In this study, we aimed to investigate the possible association of ORMDL3 single nucleotide polymorphism (SNP) (rs12603332) with susceptibility to allergic asthma in Iranian Northwestern Azeri population. 193 asthmatic patients and 185 normal individuals were included. Genomic DNA was extracted and genotyping was performed by standard restriction fragment length polymorphism-polymerase chain reaction RFLP-PCR method using BstUI restriction enzyme. Our results showed dominant presence of TC genotype and C allele in both patients (49.2% and 59.8%, respectively) and controls (48.6% and 60%, respectively). Frequency of genotypes and alleles showed no significant difference between two groups (p=0.994 and p=1.00, respectively). None of alleles could be defined as risk allele for allergic asthma (OR=0.99, 0.88-1.12, 95% CI). We failed to show significant association between ORMDL3 rs12603332 with predisposition to allergic asthma in Iranian Northwestern Azeri population. More studies with larger number of participants should be done to find more reliable results for such association.  

scholarly journals Identifikasi Keragaman Gen DGAT1 serta Asosiasinya terhadap Karakteristik Karkas dan Sifat Perlemakan Domba

2019 ◽  
Vol 6 (2) ◽  
pp. 259
Author(s):  
Asep Gunawan ◽  
Ratna Sholatia Harahap ◽  
Kasita Listyarini ◽  
Cece Sumantri
Keyword(s):  
Polymerase Chain Reaction ◽  
Single Nucleotide Polymorphism ◽  
Fragment Length Polymorphism ◽  
Nucleotide Polymorphism ◽  
Chain Reaction ◽  
Single Nucleotide ◽  
Dgat1 Gene ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Restriction Fragment Length

ABSTRAK Karakteristik karkas dan sifat perlemakan pada daging domba dikontrol oleh banyak gen salah satunya gen DGAT1 (Diacylglycerol Acyltransferasel 1). Penelitian ini bertujuan mengidentifikasi SNP (Single Nucleotide Polymorphism) gen DGAT1 pada titik mutasi g.8539 C>T dan asosiasinya terhadap karakteristik karkas dan sifat perlemakan pada domba Indonesia. Total sampel domba yang digunakan sebanyak 150 buah terdiri dari 35 sampel domba compass agrinak (DCA), 36 sampel domba barbados cross (DBC), 41 sampel domba komposit garut (DKG), 20 sampel domba ekor gemuk (DEG), dan 18 sampel domba ekor tipis (DET). Karakteristik karkas dan sifat perlemakan diukur dari domba jantan berumur 10-12 bulan. Identifikasi keragaman DGAT1|ALuI dianalisis dengan metode PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism). Hasil keragaman gen DGAT1 bersifat polimorfik dalam DET dan DEG, sedangkan DCA, DBC, dan DKG bersifat monomorfik. Dua genotipe disebut CC dan  CT ditemukan dalam DET dan DEG. Titik mutasi gen DGAT1 berasosiasi (P<0.05) dengan karakteristik karkas, yaitu bobot dan panjang karkas. Selain itu, keragaman gen DGAT1 juga berasosiasi signifikan (P<0.05) dengan asam lemak jenuh, yaitu asam stearat (C18:0) dan asam arakidat (C20:0) dan asam lemak tak jenuh tunggal, yaitu asam oleat (C18:1n9c). Gen DGAT1 memiliki kontribusi dalam karakteristik karkas dan komposisi asam lemak pada domba.Kata Kunci: domba, gen DGAT1, karakteristik karkas, PCR-RFLP, sifat perlemakan                                                              ABSTRACT            Characteristic of carcass and fatness traits of sheep is regulated by many genes such as DGAT1 (Diacylglycerol Acyltransferasel 1) gene. The research was aimed to investigate SNP (Single Nucleotide Polymorphism) of DGAT1 and its association with characteristic of carcass and fatness traits in Indonesian sheep. A total sample of sheeps used 150 rams of 10–12 months consisted 35 samples of compas agrinak sheep (CAS), 36 of barbados cross (BCS), 41 of garut composite (GCS), 20  of javanese fat tailed (JFT), and 18 of javanese thin tailed (JTT). Identification variant of DGAT1|ALuI were performed by PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism). The results of polymorphism of DGAT1 were found in JTT and JFT. However, SNP of DGAT1 in CAS, BCS and GCS were monomorfic. Two genotype namely CC and CT were found in JTT and JFT populations. A SNP of the DGAT1 was associated (P<0.05) with characteristic of carcass, including weight and length of carcass. The variant of DGAT1 was associated too with saturated fatty acids (SFA) including stearic acid (C18:0) and arachidic acid (C20:0), and mono unsaturated fatty acid (MUFA) including oleic acid (C18:1n9c). The DGAT1 gene was contribute to characteristic carcass and fatty acid composition in sheep.Keywords: DGAT1 gene, characteristic carcass, fatness traits, PCR-RFLP, sheep

Effects of prolactin receptor genotype on the litter size of Mangalica

2011 ◽  
Vol 59 (2) ◽  
pp. 269-277 ◽  
Author(s):  
Károly Tempfli ◽  
Gergely Farkas ◽  
Zsolt Simon ◽  
Ágnes Bali Papp
Keyword(s):  
Litter Size ◽  
Fragment Length Polymorphism ◽  
Prolactin Receptor ◽  
Hair Follicles ◽  
Nucleotide Polymorphism ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Breed Group ◽  
Pcr Rflp ◽  
Polymerase Chain

The aim of this study was to detect different alleles of the prolactin receptor (PRLR) gene and to examine their effects on the litter size of the indigenous Hungarian pig, the Mangalica. G1789A single nucleotide polymorphism (SNP) was investigated as a candidate for litter size. Samples from 80 purebred Mangalica sows and data of their 335 litters were provided by Olmos & Tóth Ltd. Hair follicles were used to isolate the required DNA. Allelic discrimination was performed by means of the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method using the AluI restriction enzyme and agarose gel electrophoresis. In the population examined, the A allele was found to be preferable in the Mangalica breed group. The most advantageous AA genotype was the least prevalent (8.75%), while the frequencies of AB and BB were 40% and 51.25%, respectively. Remarkably, the average number of piglets born alive per litter was 1.11 ± 0.39 higher in sows with AA as compared to those with BB genotype. By raising the frequency of the AA genotype, the litter size is likely to increase. However, the effect of PRLR genotypes can differ among pig breeds and even lines. Further studies may be required to observe and estimate possible pleiotropic effects of this polymorphism on other traits.

Evaluation of Ficolin-3 (FCN3) 1637delC (rs28357092) Frameshift Mutation in Iranian Type 2 Diabetic Subjects

2018 ◽  
Author(s):  
Shaghayegh Pishkhan Dibazar ◽  
Ahmad Zavaran Hosseini ◽  
Fatemeh Yari ◽  
Shirin Fateh ◽  
Mohammad Reza Deyhim
Keyword(s):  
Healthy Subjects ◽  
Fragment Length Polymorphism ◽  
Nucleotide Polymorphism ◽  
Salting Out ◽  
Single Nucleotide ◽  
Three Samples ◽  
Two Samples ◽  
Polymerase Chain ◽  
Type 2 Diabetic

Background and Aims: Ficolins are proteins that bind to carbohydrates, act as opsonins and play an important role in innate immunity. Polymorphism in ficolin-3 gene (FCN3) can lead to complement deficiency and increase the risk of some disorders such as diabetes. The aim of this study was to investigate the frequency of FCN3 + 1637delC as a single nucleotide polymorphism (SNP) in this gene in healthy and diabetic subjects of Iran. Materials and Methods: Blood was taken from 36 diabetics and 37 healthy subjects who had referred to the Iranian Blood Transfusion Organization. Blood sugar was analyzed using a calorimetric method. After DNA extraction using salting out method, polymerase chain reaction (PCR) was carried out and the restriction fragment length polymorphism (RFLP) method was accomplished using ApaI restriction enzyme. Consequently, the resulted fragments were evaluated using electrophoresis on 2% L-agarose gel. Results: Evaluation of the results indicated that the heterozygote form of SNP FCN3 + 1637delC was seen in three samples (8.1%) of the studied healthy subjects and in two samples (5.6%) of the diabetic individuals. Besides, the homozygous form of the mutation was not seen in the studied healthy and diabetic subjects. Conclusion: Results of this study showed that FCN3 variant of SNP FCN3 + 1637delC was not considered as a risk factor for type 2 diabetes mellitus (T2DM) in Iranian subjects.

scholarly journals The Relationship Between the PPARδ-87T>C Polymorphism and Colorectal Cancer Risk in a Chinese Han Population

2020 ◽  
Author(s):  
ZongGuang Zhou ◽  
Bo Dong ◽  
Lie Yang ◽  
Bin Zhou ◽  
Dan Zhang ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Fragment Length Polymorphism ◽  
Clinicopathological Parameters ◽  
Nucleotide Polymorphism ◽  
Chain Reaction ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Pcr Rflp ◽  
Polymerase Chain

Abstract BackgroundPeroxisome proliferator-activated receptor-β/δ (PPARβ/δ) is a transcription factor that has the potential to be associated with the development of colorectal cancer (CRC). However, the exact role of PPARδ in the context of CRC development remains to be clarified. This present study was thus designed to understand the association between CRC risk and the PPARδ-87T>C single nucleotide polymorphism (SNP) in a western Chinese Han population. MethodsThe PPARδ-87T>C (rs2016520) polymorphism was analyzed via the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) approach in 410 CRC patients and 496 frequency-matched healthy controls via a case-control study design. Relationships between PPARδ-87T>C polymorphisms and clinicopathological parameters were assessed using Pearson chi-squared tests or Fisher's exact test, Odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the association between the PPARδ-87T>C SNP and CRC risk. ResultsWe observed significant differences in genotypic frequencies when comparing CRC patients (TT 62%, TC 32%, and CC 6.1%) and controls (TT 65.5%, TC 32,3%, and CC 22%). In addition, PPARδ-87T>C genotype was associated with tumor differentiation (P=0.033), but was unrelated to clinicopathological parameters in CRC patients. An unconditioned logistic regression model analysis revealed that individuals harboring the homozygous CC genotype exhibited an elevated CRC risk relative to those harboring the TT genotype (OR=2.931,95% CI =1.41- 6.08; P=0.004).ConclusionsOur findings indicate that the homozygous PPARδ-87T>C CC genotype is associated with an elevated CRC risk as compared to the homozygous TT genotype, indicating that PPARδ-87T>C polymorphisms have the potential to serve as a marker for CRC risk. Keywords PPARδ, Colorectal cancer (CRC), Single nucleotide polymorphism (SNP), Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)

Interleukin 7 receptor alpha polymorphism rs6897932 and susceptibility to multiple sclerosis in the Western Balkans

2010 ◽  
Vol 16 (5) ◽  
pp. 533-536 ◽  
Author(s):  
Aleksandra Stanković ◽  
Evica Dinčić ◽  
Smiljana Ristić ◽  
Luca Lovrečić ◽  
Nada Starčević Cizmarević ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Western Balkans ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Receptor Alpha ◽  
Interleukin 7 ◽  
Genome Wide ◽  
Significant Difference ◽  
Polymerase Chain ◽  
Genome Variants

The interleukin 7 receptor alpha single nucleotide polymorphism rs6897932 was identified as a multiple sclerosis susceptibility-modifying polymorphism in genome-wide and gene scan studies, mainly in populations in western countries. The aim of this study was to investigate the association of interleukin 7 receptor alpha rs6897932 with multiple sclerosis in populations from the Western Balkans: Serbia, Croatia, and Slovenia. A total of 678 unrelated white patients and 597 unrelated, ethnically matched healthy controls were included in the study. Genotyping was performed by real-time polymerase chain reaction. We found no significant difference in genotype or allele frequencies between controls and patients with multiple sclerosis either separately in Serbian, Croatian, and Slovenian populations or in the whole sample from the Western Balkans. The odds ratio for multiple sclerosis in this study was 1.04 (0.86—1.25) for the C allele. It is known that demographic as well as environmental factors have a substantial role in multiple sclerosis development, as well as population genetic background. The results of this study indicate that other types of genome variants should be required for the development and/or progression of multiple sclerosis, which may vary among populations.

scholarly journals IMPACT OF SINGLE NUCLEOTIDE POLYMORPHISM IN CHEMICAL METABOLIZING GENES AND EXPOSURE TO WOOD SMOKE ON RISK OF CERVICAL CANCER IN NORTH-INDIAN WOMEN

2017 ◽  
Vol 39 (1) ◽  
pp. 69-74 ◽  
Author(s):  
K Satinder ◽  
R C Sobti ◽  
K Pushpinder
Keyword(s):  
Cervical Cancer ◽  
Fragment Length Polymorphism ◽  
Wood Smoke ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Indian Women ◽  
Increased Risk ◽  
The Social ◽  
Polymorphic Forms ◽  
Polymerase Chain

Aim: In the present study, we investigated the hypothesis whether exposure to wood smoke increases the risk of cervical cancer (CC) in North-Indian women who inherit different polymorphic forms of chemical metabolizing genes (GSTM1, GSTT1, GSTP1 and CYP1A1). Materials and Methods: One hundred fifty histologically confirmed CC patients and equal number of cancer-free age and ethnicity matched controls were genotyped for genetic polymorphism in chemical metabolizing genes by using polymerase chain reaction/restriction fragment length polymorphism method. The association of the different genotypes and exposure to wood smoke with the risk of CC in North-Indian women was estimated by doing statistical analysis using Statistical Package for the Social Science. Results: It was observed that the variant genotypes of GSTM1, GSTT1, GSTP1 and CYP1A1 did not significantly increase the risk of CC. However, statistically significant increased risk (odds ratio 3.6; 95% confidence interval, 1.34–9.78; p = 0.008) was observed for women who used wood for cooking and had GSTM1 (null) genotype. Conclusions: The present study suggests that genetic differences in the metabolism of wood smoke carcinogens, particularly by GSTM1, may increase the risk of CC.

An association of the MCP-1 and CCR2 single nucleotide polymorphisms with colorectal cancer prevalence

2017 ◽  
Vol 89 (5) ◽  
pp. 1-5 ◽  
Author(s):  
Anna Walczak ◽  
Karolina Przybyłowska-Sygut ◽  
Andrzej Sygut ◽  
Adrianna Cieślak ◽  
Michał Mik ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Fragment Length Polymorphism ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cancer Prevalence ◽  
Pcr Rflp ◽  
Study Support ◽  
Polymorphic Variants ◽  
Polymerase Chain

The aim of the study: We evaluated the connection between the presence of the -2518 A/G MCP-1 as well as 190 G/A CCR2 polymorphic variants and colorectal cancer (CRC) occurrence. Material and methods: Study group consisted of subjects with different stages of CRC as well as healthy controls. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: W observed an association between the colorectal cancer and the GG genotype of the -2518 A/G MCP-1 single nucleotide polymorphism. No statistically significant correlation was found between CRC and the 190 G/A CCR2 polymorphism. Conclusion: The results of this study support the hypothesis that polymorphism in the MCP-1 gene may contribute to the etiology of colorectal cancer.

scholarly journals Frequency of the IGF A/G rs7136446 polymorphism and athletic performance

2016 ◽  
Vol 22 ◽  
pp. 36 ◽  
Author(s):  
Sigal Ben-Saken ◽  
Shir Malach ◽  
Yoav Meckel ◽  
Dan Nemet ◽  
Alon Eliakim
Keyword(s):  
Athletic Performance ◽  
Force Production ◽  
Sport Performance ◽  
Potential Importance ◽  
Nucleotide Polymorphism ◽  
Long Distance ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Igf I ◽  
Weight Lifters

Previous studies have shown that carrying the minor T allele of the IGF C-1245T polymorphism was associated with higher circulating IGF-I levels, greater muscle mass and improved power athletic performance. The aim of the present study was to assess the frequency distribution of another IGF-I single nucleotide polymorphism (SNP), the A/G rs7136446, among Israeli athletes. The IGF A/G rs7136446 polymorphism was determined in 185 short (n=72) and long-distance (n=113) runners, 94 short (n=44) and long-distance (n=50) swimmers, 54 weight-lifters and 111 controls. There were no significant differences in GG carriers, previously described as associated with higher maximal force production, between the athletes and controls. The only statistical significant difference in GG carriers was found between the sprinters (24%) and weight-lifters (9%; p<0.05). Although a single polymorphism cannot determine an athlete’s ability to succeed or fail in sports, the present findings suggest a potential importance of IGF-I polymorphisms mainly to power sports and in particular to speed sport performance.

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