Assessment of genetic polymorphism associated with ATP-binding cassette transporter A1 (ABCA1) gene and fluctuations in serum lipid profile levels in patients with coronary artery disease.

BACKGROUND: Coronary artery disease (CAD) is one of the common genetic and clinical risk factors associated with cardiovascular and multifactorial disorder. ATP-binding cassette transporter A1 (ABCA1) gene plays an important role in lipid metabolism and in multiple studies associated with CAD. However, more studies are needed to identify the exact role of single nucleotide polymorphisms which may cause CAD. OBJECTIVES: The aim of this study is to investigate the genetic association of polymorphism g.1051G > A in the ABCA1 gene with CAD patients in the Saudi population. METHODS: We included 315 confirmed CAD cases, and 205 non-CAD or control subjects in this case-control study. DNA isolation was carried out for all registered participants and the polymorphism g.1051G > A was genotyped with Polymerase Chain Reaction followed by Restriction Fragment Length Polymorphism analysis with EcoNI restriction enzyme. RESULTS: Modifiable risk factors such as Body Mass Index, smoking and diabetes were strongly associated and non-modifiable risk factors such as hypertension (Systolic Blood Pressure and Diastolic Blood Pressure) and serum analysis such as Fasting Blood Glucose, Total cholesterol (TC), Triglyceride (TG) and LDL-c were significantly associated in CAD cases (p < 0.05). Allele (OR-1.73;95% CI:1.33-2.26; p = 0.0004), GA vs GG (OR-2.26; 95% CI: 1.53-3.35; p = 0.0003 and dominant inheritance pattern (OR-2.23; 95% CI:1.56-3.20; p = 0.00009 was strongly associated with CAD cases and control subjects. The frequency level of use of atorvastatin was significantly different among GG, GA and AA subjects. Additionally, TC and TG levels were influenced by the presence of g.1051G > A polymorphism. CONCLUSION: The polymorphism g.1051G > A in the gene ABCA1 is closely associated with the existence of the CAD subjects. This polymorphism could also affect the serum levels of the lipid profile, suggesting a possible occurrence of CAD in the Saudi population.

Comprehensive Computational Analysis of GWAS Loci Identifies CCR2 as a Candidate Gene for Celiac Disease Pathogenesis.

Celiac disease (CD) is a gluten intolerance disorder with known genetic contribution. The recent fine mapping and genome-wide association studies (GWAS) have identified up to 57 non-HLA CD susceptibility SNPs, majority of which are non-coding variants lacking any functional annotation. Therefore, we adopted multidimensional computational approach for uncovering the plausible mechanisms through which these GWAS SNPs are connected to CD pathogenesis. At initial phase, we identified that 25 (43.85%) out of 57 CD-SNPs lies in evolutionarily constrained genetic element regions. In follow-up phases, through computational (CADD, GWAVA, and FATHMM algorithms) deleterious intensity measurements, we have discovered that 42 (3.94%) out of 1065 variants (57 CD-lead and 1008-linked SNPs; r2 ≥ 0.8) are differentially deleterious in nature to CD. Further functional scrutinization of these CD variants by public domain eQTL mapping, gene expression, knockout mouse model, and pathway analyses revealed that deleterious SNPs of CCR2 gene influences its expression levels and may also elicit a cascade of T-cell-mediated immunological events leading to intestinal gluten intolerance in genetically susceptible individuals. This study demonstrates the utility of integrated in silico analysis of annotations, gene expression, and pathways in prioritizing the potential complex disease variants from large-scale open source genomic data. J. Cell. Biochem. 118: 2193-2207, 2017. © 2017 Wiley Periodicals, Inc.

Replication of GWAS loci revealed the moderate effect of TNRC6B locus on susceptibility of Saudi women to develop uterine leiomyomas.

AIM: Uterine leiomyomas (UL) are smooth muscular nodes, whose growth is dependant up on the complex interplay of hormones with genes and uterine physiology. Global statistics indicate the role of ethnic and racial background as contributory factors for UL development. Owing to the lack of data, this study aimed to examine the association between genetic polymorphisms and susceptibility of Arab women of developing UL. METHODS: We genotyped 105 UL patients and 112 healthy controls for five genetic polymorphisms through real time PCR method. The strength of the association between genotype and allele frequencies with risk of developing UL was tested with their χ2 and odds ratio (OR) values. The synergistic cooperation between genetic polymorphisms was estimated through multifactor dimensionality reduction assay. RESULTS: We found that Saudi women with the AG genotype for the rs12484776 polymorphism are at a 2.6-fold higher risk of developing UL compared to those with other genotypes (OR, 2.69; 95% confidence interval [CI]: 1.45-5.00; P < 0.001). This significance persisted even under co-dominant models (i.e., AA vs GG + AG [OR, 2.74; 95%CI: 1.48-5.08; P = 0.001; and AG vs GG + AG [OR, 2.41; 95% CI: 1.33-4.39; P = 0.003). Genotype distribution frequencies for rs1056836, rs7913069, rs2280543, and rs4247357 were not shown to elevate the disease risk (for all tests P > 0.05). CONCLUSION: The rs12484776 significantly contributes to UL risk among Saudi women, both in single and also in synergistic cooperation with rs2280543, rs7913069, and rs1056836 markers. Our results have yielded mixed findings in replicating European- and Japanese-specific UL genetic susceptibility loci among a geographically and culturally distinct population of the Saudi Arabian Peninsula.

A Computational Protein Phenotype Prediction Approach to Analyze the Deleterious Mutations of Human MED12 Gene.

Genetic mutations in MED12, a subunit of Mediator complex are seen in a broad spectrum of human diseases. However, the underlying basis of how these pathogenic mutations elicit protein phenotype changes in terms of 3D structure, stability and protein binding sites remains unknown. Therefore, we aimed to investigate the structural and functional impacts of MED12 mutations, using computational methods as an alternate to traditional in vivo and in vitro approaches. The MED12 gene mutations details and their corresponding clinical associations were collected from different databases and by text-mining. Initially, diverse computational approaches were applied to categorize the different classes of mutations based on their deleterious impact to MED12. Then, protein structures for wild and mutant types built by integrative modeling were analyzed for structural divergence, solvent accessibility, stability, and functional interaction deformities. Finally, this study was able to identify that genetic mutations mapped to exon-2 region, highly conserved LCEWAV and Catenin domains induce biochemically severe amino acid changes which alters the protein phenotype as well as the stability of MED12-CYCC interactions. To better understand the deleterious nature of FS-IDs and Indels, this study asserts the utility of computational screening based on their propensity towards non-sense mediated decay. Current study findings may help to narrow down the number of MED12 mutations to be screened for mediator complex dysfunction associated genetic diseases. This study supports computational methods as a primary filter to verify the plausible impact of pathogenic mutations based on the perspective of evolution, expression and phenotype of proteins. J. Cell. Biochem. 117: 2023-2035, 2016. © 2016 Wiley Periodicals, Inc.

Impact of brisk walking and aerobics in overweight women.

[Purpose] Lack of physical activity and an uncontrolled diet cause excessive weight gain, which leads to obesity and other metabolic disorders. Studies have indicated that brisk walking and aerobics are the best methods for controlling and reducing weight and body mass composition. [Subjects and Methods] In this study, 45 overweight women were enrolled and divided into 3 groups. Women not involved in brisk walking or aerobics were included in group A (n = 15) as control subjects; women involved in brisk walking were in group B (n = 15); and those involved in aerobics were in group C (n = 15). [Results] This program was carried out 5 days/week for 10 weeks. Pre- and post-measurements of body mass index, waist and hip circumference, and skinfold thickness of the abdomen, subscapular area, biceps, and triceps were recorded for the women in all 3 groups. All values decreased in women who participated in brisk walking and aerobics for 10 weeks. [Conclusion] These results indicate that aerobics with diet therapy is a more effective intervention program for controlling and reducing body mass index and skinfold thickness than brisk walking with diet therapy in North Indian women.

Computational study on the interaction of flavonoids with fat mass and obesity associated protein.

Obesity is a complex metabolic disorder linked to an increased risk of the most common and severe human diseases. Several flavonoids are known to have lipolytic activity influencing lipolysis and adipogenesis in adipose cells. In the current study, the inhibitory effect of various flavonoid compounds on fat mass and obesity associated protein (FTO) was assessed. The protein structure of FTO (3LFM) was downloaded from Protein Data Bank. The inhibitory effect of flavonoids was compared with a known clinical anti obesity drug. Autodock tools were used for docking flavonoids and antiobesity drug orlistat with FTO. It was examined that flavonoid quercetin proved maximum affinity (most negative AG), while daidzein showed no affinity towards FTO. The empathy of other flavonoids was in the order of Exemestane > Kaempherol > Letrozole > Rutin. It was concluded that flavonoids (particularly quercetin) may act as an effective drug against fat mass and obesity associated protein. Anti obesity drug, orlistat was also incorporated in the studyto prove that quercetin could be a potent inhibitorfor FTO.

Association of interleukin-6 polymorphisms with obesity and metabolic alterations in young Saudi population.

Rising levels of obesity are a global problem that is being exported from affluent to developing nations through the gradual "westernization of lifestyle". Population of Saudi Arabia is going through a nutrition transition where customary and traditional food is being replaced by fast food high in fat, sugar and salt. Interleukin-6 (IL-6) is a central player in the regulation of inflammation, haematopoiesis, immune response and host defense mechanisms. During the last decade, an accumulating amount of data suggested a pivotal role for IL-6 in metabolic processes, thus fortifying the picture of IL-6 as a multifaceted, pleiotropic cytokine. The Objective is to investigate the relationship between IL-6 (rs1554606) polymorphism and the risk of obesity in young Saudi population. Totally 204 Saudi young obese subjects were involved in this study. Genotyping of IL-6 was performed by the real-time polymerase chain reaction technology, using the Taq Man 5'-allele discrimination assay. IL-6 (rs1554606) AA versus AG (p < 0.01) and AA versus GG (p < 0.01) shows significant difference between Male and female group in genotypic as well as allelic distribution differ significantly, while AG versus GG did not differ significantly (p > 0.5). We have observed significant effects for Genotyping, LDL, CHOL, AST, ALP, BILIT, BMI at 5% (0.05) significance level in the study population. Our results shown that IL-6 polymorphism have significantly differ in both male and females subjects. We have observed that some evidence of interactions of the IL-6 polymorphism and have shown statistical significant association with elevated BMI, Lipid profile and total bilurubin in the study subjects.

A54T polymorphism in the fatty acid binding protein 2 studies in a Saudi population with type 2 diabetes mellitus.

BACKGROUND: Fatty acid-binding protein 2 (FABP2) is an intracellular protein expressed exclusively in the enterocytes of proximal small intestine. FABP2 has a high affinity for saturated and unsaturated long-chain fatty acids and is believed to be involved in the absorption and transport of dietary fatty acids. METHODS: This is a case-control study conceded in 438 T2DM cases and 460 subjects with normal glucose levels and non-obese considered as healthy controls. Allelic discrimination was performed using TaqMan single-nucleotide polymorphism was carried out by real time-polymerase chain reaction (RT-PCR) assays using purified DNA. RESULTS: Clinical data and anthropometric measurements except age, glucose levels and lipid profile of the patients were significantly different from those of the controls (p < 0.05). Statistical analyses failed to show any type of significant association of the polymorphism between cases and controls. However logistic regression analyses was suggests that the TT genotype is significantly associated with male patients (p = 0.001). None of the allele or genotypes of FABP2 A54T was associated with T2DM cases versus the controls (AT genotype, OR = 0.85 (0.64-1.12), p = 0.25; TT genotype, OR = 0.66 (0.39-1.11), p = 0.11; T allele, 0.82 (0.67-1.02), p = 0.08). CONCLUSION: In conclusion, this study suggests that the above named variant in FABP2 gene is not potential contributor to the risk of T2DM and related traits in a Saudi population. However TT genotype is a risk factor for the disease in males.

An energy efficient simultaneous-node repositioning algorithm for mobile sensor networks.

Recently, wireless sensor network (WSN) applications have seen an increase in interest. In search and rescue, battlefield reconnaissance, and some other such applications, so that a survey of the area of interest can be made collectively, a set of mobile nodes is deployed. Keeping the network nodes connected is vital for WSNs to be effective. The provision of connectivity can be made at the time of startup and can be maintained by carefully coordinating the nodes when they move. However, if a node suddenly fails, the network could be partitioned to cause communication problems. Recently, several methods that use the relocation of nodes for connectivity restoration have been proposed. However, these methods have the tendency to not consider the potential coverage loss in some locations. This paper addresses the concerns of both connectivity and coverage in an integrated way so that this gap can be filled. A novel algorithm for simultaneous-node repositioning is introduced. In this approach, each neighbour of the failed node, one by one, moves in for a certain amount of time to take the place of the failed node, after which it returns to its original location in the network. The effectiveness of this algorithm has been verified by the simulation results.

A Unique Presentation of a Giant Fibroadenoma in a Perimenopausal Female.

Giant fibroadenomas are common in young females and are rarely reported in perimenopausal or menopausal females. These fibroadenomas are observed as single, mobile, small to large, with distinct boundaries. These tumors are hyperplastic and characterized by their aberrant growth in both the epidermal and mesenchymal layers, which can be accompanied by pain in some instances. These tumors have similar clinical resemblances to other epithelial and stromal tumors, such as phyllodes tumors, except for the level of disease severity and malignancy. Treatment of giant fibroadenomas includes surgical resection. Surgical excision is done by complete excision of the fibroadenoma, with the rest of the breast tissue and the nipple-areolar complex preserved. Timely diagnosis can be helpful in the prevention of adverse outcomes. This is a case of a 40-year-old female who presented with a lump in her right breast, for which she underwent a wide local excision. On histopathology, it was found to be a giant fibroadenoma. Her postoperative recovery was uneventful.

Amyand's Hernia With Sliding Component: A Case Report.

Amyand's hernia (AH) occurs when the appendix becomes part of an inguinal hernia. Amyand's hernias are typically discovered incidentally during surgery due to their variable clinical manifestations and features, such as caecum and appendix forming the sliding component in the present case. Claudius Amyand operated it for the first time in 1735. Due to the simple presentations that these patients typically exhibit, the diagnosis is extremely challenging. The choice between surgical modalities is influenced by the numerous, logically accepted advantages and disadvantages of management modalities, which are subject to debate. That being said, we believe that, in the absence of sepsis or inflammation, open repair using mesh - as long as a clean operating room and competent surgical skill are available - should be the gold standard approach.

Circulating C5L2 gene polymorphism is associated with type 2 diabetes mellitus in Saudi population.

The aim of the present study was to examine the relationship between the novel single nucleotide polymorphism, 698C>T that causes an amino acid change from proline to leucine at codon 233 and type 2 diabetes mellitus (T2DM) in the Saudi population. From the general population in the Saudi Arabia a total of 551 samples were collected and categorized them as T2DM (n = 376) and healthy controls (n = 175). Five ml of the blood sample was collected and used for the Biochemical and Molecular analysis. With the help of serum sample lipid profile: Fasting blood sugar (FBS), Total Cholesterol (TC), Triglycerides (TG), High Density Lipoprotein Cholesterol (HDL-C), Low Density Lipoprotein Cholesterol (LDL-C) and VLDL were performed. PCR­RFLP was performed after separating the genomic DNA from the EDTA blood. The genotype distribution of C698T polymorphism was performed by the Chi square test with SPSS version 16.0 software for comparing T2DM subjects and healthy controls. In our study, genotypic distributions of C5L2 C698T polymorphism and allele frequency of patients and controls were found to be significant difference in the allele and the genotypic distribution. [For T Vs C; p = 0.01; Odds ratio = 3.594 (95 % CI; 1.256­10.28); and CT+TT Vs CC; p = 0.009; Odds ratio = 3.707 (95 % CI; 1.285­10.69)]. TT genotype was completely absent in both the cases and the controls. In conclusion, our study indicates that 698C>T polymorphism of C5L2 gene is associated with the T2DM in individuals of Saudi population which was found to be similar with other studies.

Association of angiotensin converting enzyme gene insertion/deletion polymorphism and familial hypercholesterolemia in the Saudi population.

BACKGROUND: The study of the association between genotype and phenotype is of great importance for the prediction of multiple diseases and pathophysiological conditions. The relationship between angiotensin converting enzyme (ACE) Insertion/Deletion (I/D) polymorphism and Familial Hypercholesterolemia (FH) has been not fully investigated in all the ethnicities. In this study we sought to determine the frequency of I/D polymorphism genotypes of ACE gene in Saudi patients with FH. RESULTS: This is a case-control study carried out purely in Saudi population. Genomic DNA was isolated from 128 subjects who have participated in this study. ACE gene I/D polymorphism was analyzed by polymerase chain reaction in 64 FH cases and 64 healthy controls. There was no statistically significant difference between the groups with respect to genotype distribution. Furthermore, we did not find any significant difference in the frequency of ACE I/D polymorphism in FH subjects when stratified by gender (p = 0.43). CONCLUSION: Our data suggest that ACE gene I/D polymorphism examined in this study has no role in predicting the occurrence and diagnosis of FH.

A Random Forest Classifier for Anomaly Detection in Laser-Powder Bed Fusion Using Optical Monitoring.

Metal additive manufacturing (AM) is a disruptive production technology, widely adopted in innovative industries that revolutionizes design and manufacturing. The interest in quality control of AM systems has grown substantially over the last decade, driven by AM's appeal for intricate, high-value, and low-volume production components. Geometry-dependent process conditions in AM yield unique challenges, especially regarding quality assurance. This study contributes to the development of machine learning models to enhance in-process monitoring and control technology, which is a critical step in cost reduction in metal AM. As the part is built layer upon layer, the features of each layer have an influence on the quality of the final part. Layer-wise in-process sensing can be used to retrieve condition-related features and help detect defects caused by improper process conditions. In this work, layer-wise monitoring using optical tomography (OT) imaging was employed as a data source, and a machine-learning (ML) technique was utilized to detect anomalies that can lead to defects. The major defects analyzed in this experiment were gas pores and lack of fusion defects. The Random Forest Classifier ML algorithm is employed to segment anomalies from optical images, which are then validated by correlating them with defects from computerized tomography (CT) data. Further, 3D mapping of defects from CT data onto the OT dataset is carried out using the affine transformation technique. The developed anomaly detection model's performance is evaluated using several metrics such as confusion matrix, dice coefficient, accuracy, precision, recall, and intersection-over-union (IOU). The k-fold cross-validation technique was utilized to ensure robustness and generalization of the model's performance. The best detection accuracy of the developed anomaly detection model is 99.98%. Around 79.40% of defects from CT data correlated with the anomalies detected from the OT data.

Blockchain enabled data security in vehicular networks.

Recently, researchers have applied blockchain technology in vehicular networks to take benefit of its security features, such as confidentiality, authenticity, immutability, integrity, and non-repudiation. The resource-intensive nature of the blockchain consensus algorithm makes it a challenge to integrate it with vehicular networks due to the time-sensitive message dissemination requirements. Moreover, most of the researchers have used the Proof-of-Work consensus algorithm, or its variant to add a block to a blockchain, which is a highly resource-intensive process with greater latency. In this paper, we propose a consensus algorithm for vehicular networks named as Vehicular network Based Consensus Algorithm (VBCA) to ensure data security across the network using blockchain that maintains a secured pool of confirmed messages exchanged in the network. The proposed scheme, based on a consortium blockchain, reduces average transaction latency, and increases the number of confirmed transactions in a decentralized manner, without compromising the integrity and security of data. The simulation results show improved performance in terms of confirmed transactions, transaction latency, number of blocks, and block creation time.

Association of genetic variants of the vitamin D receptor gene with vitiligo in a tertiary care center in a Saudi population: a case-control study.

BACKGROUND: Vitiligo is a common cutaneous disorder of the skin and hair caused by a systemic depigmentation disorder that affects 1% of the population or less due to its onset in early adulthood. Meta-analyses have documented a linkage between vitiligo and the vitamin D receptor (VDR) gene. OBJECTIVE: Investigate the relationship between the ApaI, BsmI, FokI and TaqI genetic variants in the VDR gene with vitiligo in a Saudi population. DESIGN: Case-control. SETTING: Single tertiary care center. PATIENT AND METHODS: The case-control study was carried out between January 2015-December 2015 in Saudi vitiligo patients and healthy controls. VDR genetic variants or polymorphisms (ApaI, BsmI, FokI and TaqI) were genotyped by polymerase chain reaction-restriction fragment length analysis followed by 3% agarose gel electrophoresis. Applicable statistical methods were used to assess relationships between vitiligo cases and controls. MAIN OUTCOM MEASURE: Effect of genotype distribution among four single nucleotide polymorphisms. SAMPLE SIZE: 152 vitiligo (median [IQR] 23 [19] years) patients and 159 healthy controls (45 [28.5] years). RESULTS: We found an association of vitiligo with ApaI and BsmI polymorphisms (P<.05). However, a decreased risk was noted in vitiligo patients with FokI and TaqI polymorphisms and in the diplotype and haplotype analysis within males and females. A positive association with vitiligo was observed in ACAC and AC (adjusted by gender) haplotypes (P<.05). The strongest linkage disequilibrium was observed between rs79785232 (ApaI) and rs731236 (TaqI) polymorphisms (r2=.83), followed by rs2228570 (FokI) and rs1544410 (BsmI) polymorphisms (r2=.53). CONCLUSIONS: Our results confirm an association of vitiligo with ApaI and BsmI polymorphisms and fail to show an association in TaqI and FokI polymorphism with vitiligo. Additional studies need to be carried out in different Arab populations to determine whether the polymorphisms are present. LIMITATIONS: Controls not age matched, small sample size, lack of biochemical parameters. CONFLICT OF INTEREST: None.

A hybrid group-based movie recommendation framework with overlapping memberships.

Recommender Systems (RS) are widely used to help people or group of people in finding their required information amid the issue of ever-growing information overload. The existing group recommender approaches consider users to be part of a single group only, but in real life a user may be associated with multiple groups having conflicting preferences. For instance, a person may have different preferences in watching movies with friends than with family. In this paper, we address this problem by proposing a Hybrid Two-phase Group Recommender Framework (HTGF) that takes into consideration the possibility of users having simultaneous membership of multiple groups. Unlike the existing group recommender systems that use traditional methods like K-Means, Pearson correlation, and cosine similarity to form groups, we use Fuzzy C-means clustering which assigns a degree of membership to each user for each group, and then Pearson similarity is used to form groups. We demonstrate the usefulness of our proposed framework using a movies data set. The experiments were conducted on MovieLens 1M dataset where we used Neural Collaborative Filtering to recommend Top-k movies to each group. The results demonstrate that our proposed framework outperforms the traditional approaches when compared in terms of group satisfaction parameters, as well as the conventional metrics of precision, recall, and F-measure.

Enhanced transcription of estrogen receptor α and mitochondrial cytochrome b genes in uterine leiomyomas.

The relative expression levels of estrogen receptor α (ERα) and mitochondrial cytochrome b (MTCYB) transcripts and their association with ERα, -397T > C gene polymorphism was determined in premenopausal uterine leiomyomas and myometrium tissues to gain an insight into the role of ER-mediated action of estrogen on mitochondrial gene transcription. Both ERα and MTCYB transcripts were overexpressed in leiomyomas compared with myometrium tissues with 9.18 ± 0.79 folds and 5.24 ± 0.48 folds, respectively. ERα demonstrated ≥1.7 folds overexpression expressed over MTCYB (p < 0.001). Genotype correlation with transcript expression revealed that leiomyomas with CC genotype had significantly increased levels of ERα with 11.9 ± 1.02 folds as compared with 6.46 ± 0.56 folds seen in CT and TT genotypes together (p < 0.001). Interestingly, MTCYB transcript levels were also >1.9 folds overexpressed in leiomyomas with the CC genotype as compared with leiomyomas with other genotypes (p < 0.01).Significant elevation of ERα and MTCYB transcript levels in premenopausal leiomyomas and its association with ERα, -397 CC genotype suggests the mitochondrial-mediated role of estrogen as the promoter of leiomyoma tumorigenesis.

Screening of Obese Offspring of First-Cousin Consanguineous Subjects for the Angiotensin-Converting Enzyme Gene with a 287-bp Alu Sequence.

BACKGROUND: Consanguinity, defined as a blood relation between couples, is associated with genetic diseases in their offspring. In Saudi Arabia, obesity is considered a major health problem associated with increased risks of cardiovascular disease, insulin resistance, and type 2 diabetes mellitus. Angiotensin-converting enzyme (ACE) with insertion (I) and deletion (D) polymorphisms of an Alu-287 bp sequence has been implicated in multiple metabolic disorders, including obesity. To date, no studies have been conducted in the Saudi population regarding the ACE gene in consanguineous offspring with obesity. Therefore, the present study aimed to investigate genetic associations in offspring of first cousins, and specifically the relationship between obesity and ACE (Alu-287 bp) was evaluated in the Saudi population. METHODS: In total, 91 cases of obesity in the offspring of first-cousin couples and 100 control subjects without obesity but with a family history of consanguinity were included. Using genomic DNA, ACE ID polymorphisms between the cases and controls were evaluated by polymerase chain reaction. RESULTS: There were strong differences in the height, weight, and body mass index between the cases and controls (P<0.001). A genotype analysis confirmed the strong association with allele frequencies (P<0.001; odds ratio, 4.902; 95% confidence interval, 2.867-8.379) when compared between the cases and controls. One-way analysis of variance showed a positive correlation with height and logistic regression (covariance) that could not be strongly correlated (P>0.05). CONCLUSION: In conclusion, the ACE gene polymorphism was found, through allele frequencies, to be associated with obesity in the offspring of consanguineous first cousins in the Saudi population.

Molecular detection of Mycobacterium tuberculosis in pulmonary and extrapulmonary samples in a hospital-based study.

OBJECTIVE: Tuberculosis (TB), caused by Mycobacterium tuberculosis (Mtb), remains a deadly infectious disease. India contributes to one-third of the global TB burden. However, no studies have been carried out in the Telangana (Hyderabad) population using real-time polymerase chain reaction (RT-PCR). Therefore, the current study evaluated the role of RT-PCR as a rapid and non-invasive test to diagnose TB by testing for pulmonary tuberculosis (PTB) and extrapulmonary tuberculosis (EPTB). MATERIALS AND METHODS: This hospital-based study examined 1670 samples (900 EPTB; 770 PTB) comprising tissue (n = 537), peritoneal fluid (n = 420), sputum (n = 166), bronchial fluid (n = 126), cerebrospinal fluid (n = 145), ascetic fluid (n = 76), sputum pus (n = 78), urine (n = 79), and bronchoalveolar fluid (n = 43) samples. DNA from samples was separated using specific isolation kits and subjected to RT-PCR. RESULTS: In this study, we enrolled 1670 subjects and categorized 54.4% as females and 45.6% as males. The collected samples were categorized as 48.5% of fluid samples, followed by tissue (32.2%), sputum (9.9%), urine (4.7%), and pus-swab (4.6%). RT-PCR analysis revealed that 4.7% patients were positive for Mtb. Our results revealed that 61% of the affected patients were male and 39% were female. Among the specimen types, tissue samples gave the highest proportion of positive results (36.3%). CONCLUSION: The results showed that RT-PCR should be implemented and given top priority in TB diagnosis to save time and facilitate a definitive diagnosis. Tissue samples are highly recommended to screen the Mtb through the technique RTPCR. Future studies should extend the technique to the global population and exome sequencing analysis should be performed to identify TB risk markers.