scholarly journals The Trend in Distribution of Q223R Mutation of Leptin Receptor Gene in Amoebic Liver Abscess Patients from North India: A Prospective Study

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Anil Kumar Verma ◽  
Vineet Ahuja ◽  
Jaishree Paul
Keyword(s):  
Liver Abscess ◽  
Leptin Receptor ◽  
Receptor Gene ◽  
Rflp Analysis ◽  
North India ◽  
Amoebic Liver Abscess ◽  
Fisher Exact Test ◽  
Exact Test ◽  
Pcr Rflp ◽  
A Prospective Study

Host genetic susceptibility is an important risk factor in infectious diseases. We explored the distribution of Q223R mutation in leptin receptor gene of amoebic liver abscess (ALA) patients of North India. A total of 55 ALA samples along with 102 controls were subjected to PCR-RFLP analysis. The frequency of allele “G” (coding for arginine) was in general high in Indian population irrespective of the disease. Our results of Fisher exact test shows that heterozygous mutant (QQ versus QR,P=0.049) and homozygous mutant (QQ versus RR,P=0.004) were significantly associated with amoebic liver abscess when compared with homozygous wild (QQ).

scholarly journals Comparison of Q223R leptin receptor polymorphism to the leptin gene expression in Greek young volunteers

2021 ◽  
Vol 8 (4) ◽  
pp. 301-310
Author(s):  
Panagiotis Halvatsiotis ◽  
◽  
Argyris Siatelis ◽  
Panagiotis Koulouvaris ◽  
Anthimia Batrinou ◽  
...  
Keyword(s):  
Gene Expression ◽  
Leptin Receptor ◽  
Receptor Gene ◽  
Rna Extraction ◽  
Genomic Region ◽  
Small Scale ◽  
Coding Region ◽  
Gender And Age ◽  
Study Results ◽  
Pcr Rflp

<abstract><sec> <title>Objective</title> <p>The objective of the present study was to identify the leptin gene expression and the leptin receptor polymorphisms in blood samples and to correlate gene expression values with anthropometric characteristics.</p> </sec><sec> <title>Methods</title> <p>Blood from 140 Greek young volunteers was subjected to polymerase chain reaction–restricted fragment length polymorphism (PCR–RFLP), for the genomic region of Q223R polymorphism at codon 223 in the leptin receptor gene (<italic>LEPR</italic>) coding region. RNA extraction, cDNA synthesis and Quantitative Real-Time PCR was performed for assessing the expression of the leptin gene (<italic>LEP</italic>).</p> </sec><sec> <title>Results</title> <p>Leptin gene was identified in all tested specimens and the gene was expressed in 88.9% of all volunteers with BMI &lt; 25. In addition, it was observed that gene expression is affected by various external factors, such as Body Mass Index (BMI), eating behavior, gender and age. It was also shown that as for the Q223R polymorphism (A to G) allele G occurs with a frequency of 100% in men with BMI &gt; 30 and 75.9% in men and 88.9% in women with BMI 25–30. Volunteers with BMI 25–30 who were homozygous on the G allele were 50% and 77.8% in men and women respectively. All subjects with a BMI &gt; 30 were homozygous on the G allele at 100%.</p> </sec><sec> <title>Conclusions</title> <p>In this small-scale study, results have shown that the leptin gene expression correlates with BMI and that the allele G in Q223R polymorphism is linked to overweight individuals.</p> </sec></abstract>

scholarly journals A critical role of ultrasonography in management of liver abscesses

2018 ◽  
Vol 17 (2) ◽  
pp. 258-262
Author(s):  
Samita Singal ◽  
Amit Mittal ◽  
Muzzafar Zaman ◽  
Rikki Singal
Keyword(s):  
Liver Abscess ◽  
Guide Wire ◽  
Critical Role ◽  
Medical Science ◽  
Needle Aspiration ◽  
Amoebic Liver Abscess ◽  
Percutaneous Catheter Drainage ◽  
Catheter Drainage ◽  
The Right ◽  
A Prospective Study

Aims and objectives: to see the efficacy of ultrasonography in the management of amoebic liver abscess. We assessed whether patient required surgery or can be managed with drainage procedure on ultrasonography basis.Materials and Methods: This is a prospective study done from July 2014 to May 2015, in a medical college in remote area. A total of 88 patients diagnosed with liver abscess were included in the study for ultrasound-guided percutaneous aspiration or pigtail drainage management. All patients had been treated with antibiotics or antimicrobials for at least 2 weeks if treated conservatively and were still being continued for another 6 weeks.Results: A total of 88 patients with liver abscess were successfully treated, consisting 79 males and 9 female. The age ranged from 18 to 82 years with a mean of 43.6 years. A total number of 76 (86.36%) cases undergone percutaneous catheter drainage and 12 (13.6%) underwent needle aspiration. A total of 73 (82.95%) patients had single large abscess, while 8 (9%) had two and 7 (7.9%) had multiple abscesses. The abscesses were commonly located on the right lobe of liver. The Pigtail catheters of sizes 10 F to 18 F was introduced either directly under the guidance of the guide wire with safety precautions. The volume of pus aspirated averaged from 70 - 1200 ml, while the period of catheter drainage ranged from 7 to 24 days with the follow up on ultrasonography.Conclusion: This study shows a success rate of ultrasonography almost 98 % by avoiding unnecessary surgical intervention. It was confirmed that needle aspiration in small abscesses and catheter drainage in large abscesses offers the safest and best modality.Bangladesh Journal of Medical Science Vol.17(2) 2018 p.258-262

scholarly journals Polymorphisms of Leptin (-2548 G/A) and Leptin Receptor (Q223R) Genes in Iranian Women with Breast Cancer

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Reza Mahmoudi ◽  
Bahareh Noori Alavicheh ◽  
Mohammad Amin Nazer Mozaffari ◽  
Mohammad Fararouei ◽  
Mohsen Nikseresht
Keyword(s):  
Breast Cancer ◽  
Significant Contribution ◽  
Leptin Receptor ◽  
Receptor Gene ◽  
Serum Levels ◽  
Serum Leptin ◽  
Increased Risk ◽  
Pcr Rflp ◽  
The Mean ◽  
Larger Sample

Recent studies have shown that polymorphisms in leptin and leptin receptor genes are associated with increased risk for breast cancer. This study aimed at investigating -2548 G/A polymorphism in leptin gene and Q223R polymorphism in leptin receptor gene in patients with breast cancer. The study included 45 women with breast cancer and 41 healthy women. PCR-RFLP was used to determine the genotype of the subjects in terms of -2548 G/A polymorphism in leptin gene and Q223R polymorphism in leptin receptor gene. Serum levels of leptin were also measured by ELISA. For -2548 G/A polymorphism, the genotypes were homozygous AA (OR = 1.13;p=0.8) and heterozygous GA (OR = 0.41;p=0.2) and for Q223R polymorphism, the genotypes were homozygous RR (OR = 6.7;p=0.09) and heterozygous QR (OR = 8.3;p=0.06). The mean serum level of leptin was 33.22 ± 21.35 ng/mL in patients and 29.49 ± 23.27 ng/mL in the normal participants (p=0.3). Although, despite the magnitude of the associations, the results suggested no statistically significant contribution of -2548 G/A polymorphism (in leptin gene), Q223R polymorphism (in leptin receptor gene), and serum leptin levels in predicting the risk of breast cancer, further studies with larger sample size are suggested.

scholarly journals AMOEBIC LIVER ABSCESS: CLINICAL PROFILE IN RURAL AREA IN NORTH INDIA

2013 ◽  
Vol 2 (52) ◽  
pp. 10196-10200
Author(s):  
Hooda R.S. ◽  
Pawan Tiwari ◽  
Madhu Tiwari ◽  
Vyas H. G.
Keyword(s):  
Rural Area ◽  
Liver Abscess ◽  
Clinical Profile ◽  
North India ◽  
Amoebic Liver Abscess

scholarly journals Leptin Receptor Gene Gln223Arg Polymorphism Is Not Associated with Hypertension: A Preliminary Population-Based Cross-Sectional Study

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Geórgia das Graças Pena ◽  
Andre L. S. Guimarães ◽  
Rosângela R. Veloso ◽  
Tatiana C. Reis ◽  
Crizian S. Gomes ◽  
...  
Keyword(s):  
Leptin Receptor ◽  
Receptor Gene ◽  
Rflp Analysis ◽  
Population Based ◽  
Cross Sectional Study ◽  
High Morbidity ◽  
Sectional Study ◽  
Cross Sectional ◽  
History Of ◽  
Gln223arg Polymorphism

Hypertension is responsible for high morbidity and mortality as one of the most important cardiometabolic risk factors. The aim of the study was to investigate whether the Gln223Arg in the leptin receptor (LEPR) influences the prevalence of hypertension. A cross-sectional study was carried out in individuals aged ≥ 18 years. Polymorphism identification was performed using PCR-RFLP analysis. Participants with blood pressure ≥ 140/90 mmHg or medication use were considered hypertensive. Frequencies, means, cross-tabulations, and multivariate models were produced to study differences in hypertension prevalence by genotypes. The study includes 470 participants. The frequency of GG polymorphism variant was 10.43%, 46.81% AG, and 42.77% AA. The distribution of hypertension frequency by LEPR genotypes was the following: AA 43.8%, AG 40.4%, and GG 40.8%; there were no significant differences between groups. Comparative analysis which used multivariate Poisson regression adjusted by many potential confounders (age, sex, schooling, smoking, alcohol intake, obesity, and family history of parental obesity) did not modify this result. In this large sample of population-based study, the association of the LEPR Gln223Arg gene polymorphism with hypertension was not observed.

scholarly journals Genetic Variation in Leptin Receptor Gene in Diabetic and Non-Diabetic Obese Subjects from Erbil City

2017 ◽  
Vol 11 (1) ◽  
pp. 54-60
Author(s):  
Suhad A. Mustafa
Keyword(s):  
Body Mass Index ◽  
Body Mass ◽  
Leptin Receptor ◽  
Receptor Gene ◽  
Control Group ◽  
Diabetic Patients ◽  
Pcr Rflp ◽  
Obese Subjects ◽  
Gln223arg Polymorphism ◽  
Plasma Leptin

There have been numerous genetic causes of obesity specifically leptin, genetic variants of the leptin receptor gene (LEPR Gln223Arg) which appeared to be polymorphismized (A>G; rs1137101) have been implicated in the pathogenesis of obesity in several populations, although no association has been evidenced in other regions in the world. In this study, the association between LEPR Gln223Arg polymorphism with Body Mass Index (BMI) and plasma leptin levels in obese diabetic and obese non-diabetic adults who are randomly selected from Erbil city is evaluated. Blood samples were collected for DNA extraction, and plasma leptin measurements. LEPR (A > G; rs1137101) genotypes were identified by a PCR- RFLP. The results show that plasma leptin concentrations increased with body mass index, and in obese diabetic group was more than  two-fold increases p=0.001 when compared to those of obese non-diabetic patients. LEPR (A > G; rs1137101) gene polymorphisms did not found associated with BMI in the whole studied population. Furthermore an increased frequency of the GG genotype in the female control group 32.1 compared to obese group 19.2, but the frequency did not significant (OR= 1.38: 95% CI; 0.74-2.03, P=0.07 ) which indicated that this genotype might be associated with a protective effect against obesity in female only and that this effect was independent of diabetes. Further analysis of a larger population is required to confirm the biological relevance of this polymorphism for obesity in the Kurdish population.

scholarly journals Diversity in the cag pathogenicity island of Helicobacter pylori isolates in populations from North and South India

2010 ◽  
Vol 59 (1) ◽  
pp. 32-40 ◽  
Author(s):  
Sushil Kumar ◽  
Ashok Kumar ◽  
Vinod Kumar Dixit
Keyword(s):  
Helicobacter Pylori ◽  
South India ◽  
Rflp Analysis ◽  
Variable Region ◽  
Pathogenicity Island ◽  
North India ◽  
South Indian ◽  
Pcr Rflp ◽  
H Pylori ◽  
North And South

The cag pathogenicity island (cagPAI) has been reported to be the major virulence determinant in Helicobacter pylori-related diseases. In the present study, the diversity of the cagA gene and the integrity of the cagPAI in 158 H. pylori strains from Varanasi (North India) and Hyderabad (South India) were studied by amplifying the cagA gene (∼3.5 kb), followed by PCR-RFLP analysis. The results revealed significant differences in the cagA gene and the integrity of the cagPAI between North and South Indian isolates. Of 158 isolates, 40 (34.8 %) from Varanasi and 20 (46.5 %) from Hyderabad were found to carry an intact cagPAI. A partially deleted cagPAI was present in 75 (65.2 %) isolates from Varanasi and 23 (53.5 %) from Hyderabad. None of the isolates showed complete deletion of the cagPAI. Differences in the cagA 5′ and 3′ regions were also noted, and 11 isolates (8 from Varanasi and 3 from Hyderabad) that were cagA negative with primers for the 5′ region turned out to be cagA positive with primers for the 3′ variable region. It is tentatively concluded that the 3′ variable region may be a better marker for cagA typing. The results also showed that the majority of the isolates harboured the Western-type EPIYA motif. PCR-RFLP analysis of the cagA gene showed 29 distinguishable digestion patterns, and cluster analysis of RFLP types from a random selection of 32 isolates placed all of the isolates into 5 groups. These results demonstrate that significant differences in the cagPAI occur among isolates from North and South India, and that RFLP of cagA could be employed for elucidating genetic variations among various isolates of H. pylori.

scholarly journals Γενετική μελέτη σε γονίδια που σχετίζονται με την έκβαση ασθενών με κρανιοεγκεφαλική κάκωση

2017 ◽  
Author(s):  
Γεώργιος Χατζηγεωργίου
Keyword(s):  
Fisher Exact Test ◽  
Exact Test ◽  
Pcr Rflp

Εισαγωγή: Η Κρανιοεγκεφαλική Κάκωση (ΚΕΚ) αποτελεί μια από τις σημαντικότερες αιτίες νοσηρότητας και θνητότητας στο σύγχρονο κόσμο, αποτελώντας το κύριο αίτιο θανάτου στα νέα άτομα. Εκτιμάται ότι παρά τις σύγχρονες εξελίξεις στην αντιμετώπιση της ΚΕΚ, περίπου οι μισοί ασθενείς με βαριά ΚΕΚ θα έχουν δυσμενή έκβαση. Πρόσφατες μελέτες στη διεθνή βιβλιογραφία υποστηρίζουν ότι ποικίλοι γενετικοί παράγοντες διαδραματίζουν σημαντικό ρόλο στην έκβαση διαφόρων διαταραχών του ΚΝΣ, συμπεριλαμβανομένης και της ΚΕΚ. Οι μελέτες γενετικής συσχέτισης αποτελούν σημαντικό εργαλείο στην προσπάθεια ανάδειξης σύνδεσης συγκεκριμένων γενετικών πολυμορφισμών και της έκβασης της νόσου. Στην παρούσα μελέτη διερευνήσαμε τον ρόλο της Ακουοπορίνης-4 (AQP4) και του Μετατρεπτικού Ενζύμου της Αγγειοτενσίνης (ACE) σχετικά με την έκβαση των ασθενών μετά από ΚΕΚ. Ειδικότερα, μελετήθηκαν οι πολυμορφισμοί της AQP4: rs335929, rs3763043, rs11661256, rs335931, rs3763040, rs4800773, rs3875089, όπως και οι ακόλουθοι του ACE: rs4343, rs4461142, rs7221780, rs8066276, rs8066114.Μέθοδος: Στη μελέτη συλλέχθηκαν προοπτικά 363 ασθενείς με ΚΕΚ (άνδρες: 292 – γυναίκες: 71). Η αρχική νευρολογική εικόνα και η έκβαση 6 μήνες μετά την ΚΕΚ εκτιμήθηκαν με βάση την Κλίμακα Κώματος Γλασκώβης και την Κλίμακα Έκβασης Γλασκώβης αντιστοίχως. Καταγράφηκαν λεπτομερώς και ταξινομήθηκαν τα δημογραφικά και κλινικά στοιχεία των ασθενών, όπως και τα ευρήματα του νευροαπεικονιστικού ελέγχου. Οι ασθενείς συμπεριλαμβάνονταν στη μελέτη εφόσον είχαν υποστεί αμβλύ τραυματισμό κεφαλής, ήταν ελληνικής καταγωγής και ηλικίας άνω των 18 ετών. Η απομόνωση γενωμικού DNΑ από πυρήνες λευκοκυττάρων έγινε με τη μέθοδο της εξαλάτωσης, ενώ η ταυτοποίηση των γονοτύπων των πολυμορφισμών έγινε με γνωστές PCR/RFLP μεθόδους. Η ισορροπία Hardy-Weinberg εξετάσθηκε με τη χρήση του Fisher exact test. Η αξιολόγηση της ισχύος της μελέτης έγινε με τη χρήση του προγράμματος Quanto. Έγινε χαρτογράφηση της ανισορροπίας σύνδεσης και σύγκριση των απλοτύπων με βάση μεθόδους εκτίμησης της μεγίστης πιθανοφάνειας. Λόγω πολλαπλών συγκρίσεων εφαρμόστηκε η διόρθωση κατά Bonferroni. Στατιστικά σημαντικά θεωρήθηκαν τα αποτελέσματα με p=0.05 διαιρούμενα με τον αριθμό των μελετώμενων μεταβλητών.Αποτελέσματα: Σχετικά με τους πολυμορφισμούς της AQP4, σημαντική συσχέτιση με την έκβαση μετά από ΚΕΚ ανιχνεύθηκε για τις ακόλουθες ετικέτες SNPs: rs3763043 (OR [95% CI]: 5.15 [1.60–16.5], p = 0.006), rs3875089 (OR [95% CI]: 0.18 [0.07–0.50] p = 0.0009), και SNPs του κοινού απλοτύπου της AQP4 (OR [95% CI]: 2.94, [1.34–6.36], p = 0.0065). Οι ετικέτες SNPs της AQP4 δεν φάνηκαν να επηρεάζουν την αρχική βαρύτητα της ΚΕΚ ή την παρουσία ενδοκρανιακής αιμορραγίας.Όσον αφορά τους πολυμορφισμούς της ACE, σημαντική επίδραση σχετικά με την έκβαση μετά από ΚΕΚ ανιχνεύθηκε για τις ακόλουθες γειτονικές ετικέτες: rs4461142 (OR: 0.26, 95% CI 0.12–0.57, P=0.0001), rs7221780 (OR 2.67, 95% CI 1.25–5.72, P=0.0003) και rs8066276 (OR 3.82, 95% CI 1.80–8.13, P=0.0002). Συμπεράσματα: Η παρούσα μελέτη παρέχει ενδείξεις για πιθανή συμμετοχή γενετικών παραλλαγών της AQP4 και της ACE στην λειτουργική έκβαση των ασθενών με ΚΕΚ. Η συσχέτιση αυτή παρουσιάζει ιδιαίτερο επιστημονικό ενδιαφέρον, καθότι τα γονίδια αυτά μπορούν να αποτελέσουν πιθανούς θεραπευτικούς στόχους σε ασθενείς με ΚΕΚ, για την πρόληψη και τη θεραπεία του εγκεφαλικού οιδήματος. Μελλοντικά οι εξελίξεις στον τομέα αυτό αναμένεται να έχουν σημαντική επίδραση στη θεραπεία των ασθενών με ΚΕΚ και να επηρεάζουν ευνοϊκά την τελική τους έκβαση μέσω γενετικά καθοδηγούμενων θεραπειών.

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