scholarly journals The −174G/C and −572G/C Interleukin 6 Promoter Gene Polymorphisms in Mexican Patients with Rheumatoid Arthritis: A Case-Control Study

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
S. A. Zavaleta-Muñiz ◽  
B. T. Martín-Márquez ◽  
L. Gonzalez-Lopez ◽  
N. G. Gonzalez-Montoya ◽  
M. L. Díaz-Toscano ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Severe Disease ◽  
Rflp Analysis ◽  
Mexican Mestizo ◽  
Lack Of Information ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Promoter Gene ◽  
Hardy Weinberg Equilibrium ◽  
Control Study

Objective. There is a lack of information about the genotype frequencies of IL-6 −174G/C and −572G/C polymorphisms in Mexicans with rheumatoid arthritis (RA). Therefore, the aim of this study was to evaluate the association of the IL-6 −174G/C and −572G/C polymorphisms in Mexican mestizo with RA.Methods. We included 137 patients with RA and 102 healthy controls. Patients were assessed for clinical characteristics. IL-6 −174G/C and −572G/C polymorphisms were genotyped using PCR-RFLP analysis. Allele and genotype frequencies and the Hardy-Weinberg equilibrium were computed. Odds ratios (ORs) were computed to identify the risk for RA associated with the presence of GG genotype in comparison with the GC or CC genotypes.Results. The genotype −174GG occurred at a higher frequency in cases and controls (77.4% versus 78.4%,P=0.845). We found similar results for the genotype −572GG (54% in patients versus 60.8% in controls,P=0.295).Conclusions. This is the first study to evaluate the association of −174G/C and −572G/C polymorphisms of the IL-6 gene with RA in Mexican mestizo patients. These two polymorphisms were not associated with RA in the studied sample. Additional studies are required to evaluate if these IL-6 polymorphisms have relevance to the development of more severe disease.

scholarly journals Polymorphism rs2073618 of the TNFRSF11B (OPG) Gene and Bone Mineral Density in Mexican Women with Rheumatoid Arthritis

2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
C. A. Nava-Valdivia ◽  
A. M. Saldaña-Cruz ◽  
E. G. Corona-Sanchez ◽  
J. D. Murillo-Vazquez ◽  
M. C. Moran-Moguel ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Bone Mineral Density ◽  
Bone Mineral ◽  
Mexican Women ◽  
Mineral Density ◽  
Single Nucleotide ◽  
Mexican Mestizo ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Control Study

Osteoporosis (OP) is highly prevalent in rheumatoid arthritis (RA) and is influenced by genetic factors. Single-nucleotide polymorphism (SNP) rs2073618 in the TNFRSF11B osteoprotegerin (OPG) gene has been related to postmenopausal OP although, to date, no information has been described concerning whether this polymorphism is implied in abnormalities of bone mineral density (BMD) in RA. We evaluated, in a case-control study performed in Mexican-Mestizo women with RA, whether SNP rs2073618 in the TNFRSF11B gene is associated with a decrease in BMD. RA patients were classified as follows: (1) low BMD and (2) normal BMD. All patients were genotyped for the rs2073618 polymorphism by PCR-RFLP. The frequency of low BMD was 74.4%. Higher age was observed in RA with low BMD versus normal BMD (62 and 54 years, resp.; p<0.001). Worse functioning and lower BMI were observed in RA with low BMD (p=0.003 and p=0.002, resp.). We found similar genotype frequencies in RA with low BMD versus RA with normal BMD (GG genotype 71% versus 64.4%, GC 26% versus 33%, and CC 3% versus 2.2%, resp.; p=0.6). We concluded that in Mexican-Mestizo female patients with RA, the rs2073618 polymorphism of the TNRFS11B gene is not associated with low BMD.

scholarly journals Study of the Association between microRNA (miR-25T>C, miR-32C>A, miR-125C>T, and miR-222G>T) Polymorphisms and the Risk of Recurrent Pregnancy Loss in Korean Women

Genes ◽  
2020 ◽  
Vol 11 (4) ◽  
pp. 354 ◽  
Author(s):  
Jeong Yong Lee ◽  
Jung Oh Kim ◽  
Han Sung Park ◽  
Chang Soo Ryu ◽  
Ji Hyang Kim ◽  
...  
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Rflp Analysis ◽  
Blood Coagulation Disorders ◽  
Single Nucleotide Variants ◽  
Genotype Combination ◽  
Nitrogen Levels ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Immunological Factors

Recurrent pregnancy loss (RPL), which is defined as two pregnancy losses that occur before 20 weeks of gestation, is relatively common, occurring in approximately 1–5% of women. The underlying cause is often unclear, although numerous factors may contribute to RPL, including environmental and immunological factors, blood coagulation disorders, and genetics. In particular, single nucleotide variants have been associated with RPL, including those found in microRNAs (miRNAs). We investigated the association between four miRNA polymorphisms, miR-25T>C, miR-32C>A, miR-125aC>T, and miR-222G>T, and RPL in a cohort consisting of 361 RPL patients and 272 controls. Subjects were genotyped at miRNA loci by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis, and genotype frequencies were calculated. We then performed allele and genotype combination analyses and measured the association between miRNA polymorphisms and clinical variables in both RPL patients and controls. We detected a statistically significant association between RPL and the miR-25T/miR-32C/miR-125aT/miR-222T allele combination (adjusted odds ratio (AOR), 4.361; 95% confidence interval (CI), 1.496–12.72; P = 0.003). Three-gene combinations, including miR-32C/miR-125aT/miR-222T (AOR, 3.085; 95% CI, 1.254–7.588; P = 0.010) and miR-25T/miR-125aT/miR-222T (AOR, 2.929; 95% CI, 1.183–7.257; P = 0.015), and the two-gene combination miR-125aT/miR-222T (AOR, 2.417; 95% CI, 1.084–5.386; P = 0.026) were also associated with RPL. Analysis of variance (ANOVA) revealed that platelet counts and blood urea nitrogen levels were significantly different in RPL patients expressing different miR-125aC>T and miR-25T>C genotypes, respectively (P < 0.05). In addition, creatinine levels were lower in RPL patients expressing the minor alleles miR-25T>C and miR-32C>A. We investigated miRNAs (miR-25, miR-32, miR-125a, miR-222) in RPL patients and healthy controls. Significantly different allele frequencies were detected by ANOVA. We suggest that miRNAs and clinical factors can impact RPL occurrence.

scholarly journals Polymorphisms of the lipoprotein lipase gene as genetic markers for stroke in colombian population: a case control study

2016 ◽  
pp. 189-195 ◽  
Author(s):  
Leydi Carolina Velásquez Pereira ◽  
Clara Inés Vargas Castellanos ◽  
Federico Arturo Silva Sieger
Keyword(s):  
Ischemic Stroke ◽  
Acute Ischemic Stroke ◽  
Genetic Markers ◽  
Case Control ◽  
Lipase Gene ◽  
X Ray ◽  
Lpl Gene ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
Control Study

Objective: To analyze if there is an association between the presence of polymorphisms in the LPL gene (rs320, rs285 and rs328) with development of acute ischemic stroke in Colombian population. Methods: In a case control design, 133 acute ischemic stroke patients (clinical diagnosis and x-ray CT) and 269 subjects without stroke as controls were studied. PCR -RFLP technique was used to detect rs320, rs285 and rs328 polymorphisms in the LPL gene. Results: In the present research was not found any association between any of the LPL gene polymorphism and acute ischemic stroke in the population studied; the allele and genotypic frequencies of the studied polymorphisms were similar in cases and controls and followed the Hardy-Weinberg equilibrium. The study was approved by the IRB and each subject signed the informed consent. Conclusion: LPL gene polymorphisms are not genetic markers for the development of stroke in the Colombian sample used.

scholarly journals Association of SNP T125A on KiSS1 gene with reproduction hormone levels in Kaligesing goat

2020 ◽  
Vol 45 (4) ◽  
pp. 253-260
Author(s):  
G. Hardyta ◽  
D.T. Widayati ◽  
D. Maharani
Keyword(s):  
Luteal Phase ◽  
Reproductive Traits ◽  
Genotype Distribution ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
17Β Estradiol ◽  
Hormonal Analysis ◽  
Hormonal Levels

The objective of this study was to assess the association of KiSS1 gene polymorphism with reproductive traits in Kaligesing goat. Genotypes of 48 ewes aged three years old were determined using PCR-RFLP and DNA sequencing. Sixteen out of 48 samples were monitored for the estrus cycle and determined their 17β-estradiol and progesterone levels using ELISA method. The results showed that KISS1 gene in the studied population was polymorphic with one single nucleotide polymorphism (SNP T125A). Then SNP was used to analyze genotype all individuals by PCR-RFLP method using MboII enzyme. Three genotypes (TT, TA and AA) were identified. Genotype frequencies of TA were 59.57%, AA were 40.43% while TT was not inculed in calculation for genetic diversity and assosication analysis since the number of genotype only one goat. The allele frequencies of T and A were 29.79% and 70.21%, respectively. The genotype distribution for the SNP was deviated from Hardy-Weinberg equilibrium (χ2=8.10; P<0.025). Hormonal analysis showed that the levels of 17β-estradiol in the follicular and luteal phase were 50.12±61.26 and 42.35±42.43 pg/ml, respectively, while the levels of progesterone hormone in the follicular and luteal phase were 7.87±10.59 and 12.39±15.93 ng/ml. No significant associations of the polymorphism were observed for any hormonal levels. However, it was first report about polymorfism in KiSS1 gene of local Indonesian goat especially Kaligesing goat. 

scholarly journals Analysis of Prolactin and Kappa-Casein Genes Polymorphism in Four Cattle Breeds in Turkey

2014 ◽  
Vol 14 (4) ◽  
pp. 799-806
Author(s):  
Bilal Akyüz ◽  
Mehmet Ulaş Çınar
Keyword(s):  
Restriction Enzymes ◽  
Chi Square ◽  
Brown Swiss ◽  
Weinberg Equilibrium ◽  
Cattle Breeds ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Chi Square Test ◽  
Hardy Weinberg Equilibrium ◽  
Casein Genes

Abstract The objective of this study was to identify allele and genotype frequencies of CSN3 and PRL genes in four cattle breeds in Turkey. For this purpose, a total of 390 cattle of East Anatolian Red (EAR), Zavot, Brown Swiss (BS) and Simmental (SIM) breeds were genotyped by PCR-RFLP method. A 443 bp fragment of CSN3 and a 156 bp fragment of PRL were amplified and digested with HindIII and RsaI restriction enzymes, respectively. For CSN3 and PRL genes, two types of alleles (A and B) and three types of genotypes (AA, BB, and AB) were observed. The highest frequencies for CSN3-A and CSN3-B alleles were estimated for the EAR breed (0.743) and for the BS breed (0.556), respectively. The highest frequency for PRL-A and PRL-B alleles was estimated for the SIM breed (0.801) and for the BS breed (0.315), respectively. The Chi-square test among the investigated cattle breeds showed that only the Zavot breed was in Hardy-Weinberg equilibrium (HWE) for both loci.

Genetic Variants of β-casein Gene in Indigenous and Exotic Dairy Cattle Breeds in Sri Lanka

2020 ◽  
Author(s):  
S. Wickramasinghe ◽  
R. K. Rupasinghe ◽  
N. Shanjayan ◽  
L. G.S. Lokugalappatti
Keyword(s):  
Sri Lanka ◽  
Bos Indicus ◽  
Bovine Milk ◽  
Cattle Population ◽  
Health Issues ◽  
Genotype Frequencies ◽  
Holstein Friesian ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
White Cattle

Background: Bovine milk contains two types of β-casein (CSN2); A1 and A2, in which A1 type has shown associations with certain health issues. This study was conducted to identify the abundance of CSN2 A1/A2 variants in European and indigenous dairy breeds in Sri Lanka. Methods: The study included 123 Ayrshire, 101 Holstein Friesian and 92 indigenous White cattle (Bos indicus) populations. Genotyping was performed by PCR-RFLP method using Dde1. Allele and genotype frequencies and population genetic indices were calculated. Result: Results showed A1A2 to be predominant in both Holstein Friesian (0.63) and Ayrshire (0.68) populations while A2A2 (0.82) was predominant in the White cattle population. A1 and A2 allele frequencies were 0.52 and 0.48 in Ayrshire; 0.39 and 0.61 in Holstein Friesian and 0.09 and 0.91 in White cattle populations. Ayrshire and Holstein Friesian populations showed significant deviation from the Hardy-Weinberg equilibrium (p£0.05). When compared to the imported breeds, the White cattle population showed inbreeding and less genetic diversity.

scholarly journals Polymorphisms in the Leptin and SCD genes in Buffaloes of the Amazon

2021 ◽  
Vol 10 (13) ◽  
pp. e233101321222
Author(s):  
Caio Santos Silva ◽  
Ednaldo da Silva Filho ◽  
Lorena Keyse Nery da Silva ◽  
Rafaella Sousa Ferraz ◽  
Amanda de Sousa Matos ◽  
...  
Keyword(s):  
Milk Production ◽  
Bubalus Bubalis ◽  
Shannon Index ◽  
Inbreeding Coefficients ◽  
Genotype Frequencies ◽  
Mixed Breed ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
Polymerase Chain ◽  
Amazonian Region

The objective this work was to evaluate genetically the buffaloes populations using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in the leptin and stearoyl-CoA desaturase (SCD) genes, and associate the genotypes with milk production. Sixty-nine samples of Bubalus bubalis - 38 Murrah breed, 18 Mediterranean and 13 mixed-breed of the Murrah with Mediterranean - were evaluated. Allele and genotype frequencies, the heterozygosity observed and expected, the inbreeding coefficients (FIS), the probabilities of the Hardy-Weinberg equilibrium, the F statistic for population differentiation and Shannon index were calculated using GENEPOP and GenALEx programs. The associations of the different genotypes with a role in milk production were tested by Analysis of Variance (ANOVA) and t-test. We reported the leptin and SCD allele contribution to genetic variability in buffaloes herds in the Brazilian Amazonian region. The A allele was more representative in leptin and SCD genes for all breed groups. No significant effects between genotypes and milk production were found in the present study, but there is an indicative that AA genotype in leptin gene affects milk production in Murrah breed.

scholarly journals Polymorphism in intron 23 of the endothelial nitric oxide synthase gene (NOS3) is not associated with hypertension.

2002 ◽  
Vol 49 (1) ◽  
pp. 263-268 ◽  
Author(s):  
Natalia Derebecka ◽  
Marcin Hołysz ◽  
Rafał Dankowski ◽  
Michał Wierzchowiecki ◽  
Wiesław H Trzeciak
Keyword(s):  
Nitric Oxide ◽  
Nitric Oxide Synthase ◽  
Rflp Analysis ◽  
Control Group ◽  
Healthy Individuals ◽  
Nos3 Gene ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
Oxide Synthase ◽  
Endothelial Nitric Oxide

Nitric oxide (NO) is synthesised in the vascular endothelium by nitric oxide synthase (NOS3) and is an important factor in the regulation of blood pressure. Impaired synthesis of NO due to mutations in the NOS3 gene is associated with hypertension. To date several allelic variants of the NOS3 gene have been identified and their possible linkage with hypertension investigated. We studied the distribution of genotypes and frequency of alleles of the G11T polymorphism in intron 23 of the NOS3 gene in patients with hypertension and in a control group of healthy individuals. The polymorphism was determined by PCR-RFLP analysis. The distribution of genotypes in the patients with hypertension and in the healthy individuals did not differ significantly from the values predicted from Hardy-Weinberg equilibrium for the general population. No major differences in the distribution of the G11T polymorphism in the patients and healthy individuals were found (P > 0.05).

scholarly journals The Influence of Interleukin17AandIL17FPolymorphisms on Chronic Periodontitis Disease in Brazilian Patients

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Joana Maira Valentini Zacarias ◽  
Emília Ângela Sippert ◽  
Patrícia Yumeko Tsuneto ◽  
Jeane Eliete Laguila Visentainer ◽  
Cléverson de Oliveira e Silva ◽  
...  
Keyword(s):  
Chronic Periodontitis ◽  
Case Control Study ◽  
Case Control ◽  
Healthy Controls ◽  
Southern Brazil ◽  
Chi Square ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
Caucasian Patients ◽  
Control Study

A case-control study was conducted on patients with chronic periodontitis (CP) and healthy controls with the aim of evaluating possible association between interleukin17A (IL17A)G197A (rs2275913) andIL17FT7488C (rs763780) polymorphisms and periodontitis. Genotypes were determined by PCR-RFLP method. Statistical analyses were conducted using the OpenEpi and SNPStas software to calculate Chi-square with Yates correction or Fisher’s exact tests, odds ratios (OR), and 95% confidence intervals (CIs). SNPStas software was used to calculate Hardy-Weinberg equilibrium.IL17AAA genotype was more frequent in patients with chronic periodontitis (CP) in the codominant and recessive models (P=0.09; OR = 2.53 andP=0.03; OR = 2.46, resp.), the females with CP (P=0.01, OR = 4.34), Caucasoid patients with CP (P=0.01, OR = 3.45), and nonsmoking Caucasian patients with CP (P=0.04, OR = 3.51). TheIL17AA allele was also more frequent in Caucasians with CP (P=0.04, OR = 1.59).IL17FT7488C polymorphism was not associated with chronic periodontitis. In these patients from Southern Brazil, theIL17Ars2275913 polymorphisms,IL17AAA genotype, and the A allele were associated with a susceptibility to chronic periodontitis.

A Novel PCR-RFLP Method for Detection of POR*28 Polymorphism and its Genotype/Allele Frequencies in a Turkish Population

2019 ◽  
Vol 20 (10) ◽  
pp. 845-851
Author(s):  
Fezile Ozdemir ◽  
Merve Demirbugen Oz ◽  
Hilat S. Suzen
Keyword(s):  
Turkish Population ◽  
Allele Frequencies ◽  
Oxidation Reactions ◽  
Coding Region ◽  
Chinese Populations ◽  
Genotype Frequencies ◽  
Genotypic Analysis ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
Novel Method

Background: The Cytochrome P450 (CYP) enzymes are involved in the metabolism of many endogenous and exogenous substances. They need electrons for their activity. CYP mediated oxidation reactions require cytochrome oxidoreductase (POR) as an electron donor. A common genetic variation identified in the coding region of POR gene (POR*28) leads to an alteration in POR activity by causing amino acid change. The current study aimed to determine the allele and genotype frequencies of POR*28 in a healthy Turkish population by using a novel genotyping assay. Methods: A novel PCR-RFLP assay was developed for the detection of POR*28 (rs1057868) polymorphism and the obtained frequencies were compared with the data established in various ethnic groups. Results: Genotypic analysis revealed that of 209 healthy, unrelated individuals tested for POR*28 polymorphism, 55.5% of the studied subjects were homozygous for the CC genotype, 34.9% were heterozygous for the CT genotype and 9.6% were homozygous for the TT genotype. The allele frequencies were 0.73 (C) and 0.27 (T). The present results were in accordance with the Hardy- Weinberg equilibrium. The distribution of POR*28 allele varies between populations. The frequency of the T allele among members of the Turkish population was similar to frequencies in Caucasian populations but was lower than in Japanese and Chinese populations. Conclusions: In this study, a novel method was developed, which could be applied easily in every laboratory for the genotyping of POR *28 polymorphism. The developed genotyping method and documented allele frequencies may have potential in understanding and predicting the variations in drug response/adverse reactions in pharmacotherapy and susceptibility to diseases in POR-mediated metabolism reactions.

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