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.

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.

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.

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.

Correction to: Association of the genetic variants of insulin receptor substrate 1 (IRS-1) with type 2 diabetes mellitus in a Saudi population.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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.

L-asparaginase produced from soil isolates of Pseudomonas aeruginosa shows potent anti-cancer activity on HeLa cells.

Among cancers, acute lymphoblastic leukemia (ALL) occurs in the children <15 years of age. L-asparaginase is an important therapeutic enzyme used for treating ALL. Owing to its therapeutic use and demand, microorganisms have been in use for many years to produce L-asparaginase on an industrial scale. Gram-negative bacteria (Serratia, Erwinia and Escherichia coli) species were used in L-asparaginase. However, earlier studies have documented that the long-term use of enzymes produced from these commercial strains induces hypersensitivity in patients. Therefore, there is a need to discover novel microbial strains producing L-asparaginase with anti-cancer properties, which can be employed for the commercial production of the enzyme. In this study, three strains of Pseudomonas aeruginosa (accession numbers LC425424 (P31), LC425425 (P32), and LC425426 (P34)) isolated from garden soil were screened for the invention of L-asparaginase. Fermented production media was dialyzed to attain the purified enzyme, thus showed a dose-depended cytotoxic effect on HeLa cells, as determined by MTT assay. The IC50s of the different isolates were 86.73, 57.65, and 40.34 µg/mL. These results indicate that pseudomonal L-asparaginase may be used for cancer treatment.

Role of SREBP2 gene polymorphism on knee osteoarthritis in the South Indian Hyderabad Population: A hospital based study with G595C variant.

INTRODUCTION: Osteoarthritis (OA) is a multifactorial disease with genetic factors playing a crucial role, and it has been associated with a family history of obesity. G595C polymorphism in the sterol regulatory element-binding protein 2 (SREBP2) gene has demonstrated an association with knee osteoarthritis (KOA) patients. However, this polymorphism has been never explored in an Indian population. Hence, the current study aimed to examine whether G595C (rs2228314) polymorphism in SREBP2 gene was associated with KOA susceptibility in the South Indian Hyderabad population. METHODS: G595C polymorphism was genotyped with 200 KOA cases and 200 healthy controls using polymerase chain reaction-restriction fragment length polymorphism analysis. RESULTS: A significant association was observed between age, body mass index (BMI), and family histories in KOA cases and controls (p < 0.05). The current allele (C vs G; OR-2.8 [95%CI = 2.1-3.7]; p < 0.0001) and genotype analysis confirms the significant association with (GC + CC vs GG; OR-3.5 [95%CI = 2.3-5.3]; p < 0.0001 & GC vs GG + CC; OR-1.7 [95%CI = 1.0-2.9]; p = 0.02) KOA vs. control subjects. On stratification analysis, genotype CC and C allele were associated with KOA. Gender association failed to demonstrate positive genotype frequencies (p > 0.05). Multifactor-dimensionality reduction (MDR) analysis showed a positive association with BMI and G595C genotypes (p < 0.05); 51% of the homozygous variant CC genotypes were present in obesity subjects. CONCLUSION: In conclusion, our findings suggest that G595C polymorphism in SREBP2 gene is associated with KOA in the South Indian Hyderabad population and presents scope for further investigation of the gene's function in KOA.

Genetic confirmation of T2DM meta-analysis variants studied in gestational diabetes mellitus in an Indian population.

BACKGROUND: Meta-analysis is useful for combining the results of different studies statistically to confirm genuine associations in genetics. Based on earlier reports, we aimed to investigate the association between type 2 diabetes mellitus (T2DM) genetic variants identified in a previous meta-analysis in gestational diabetes mellitus (GDM) in an Indian woman. MATERIAL AND METHODS: In this study, 137 pregnant women with GDM and 150 pregnant women were selected on the basis of their serum glucose levels. The six single nucleotide polymorphisms (SNPs) of different genes studied had known involvement in pancreatic ß-cell function, particular pathways linked to T2DM, and other biological functions. Genomic DNA was isolated from the 287 women for polymerase chain reaction and restriction fragment length polymorphism analyses. RESULTS: The rs7903146, rs13266634, rs2283228, rs5210 and rs179881 SNPs were found to be positively associated with GDM when calculated for genotype and allele frequencies (p < 0.05), but rs680 (ApaI) variant did not show statistically significant association (p = 0.31). The rs7903146, rs2283228, rs5210 and rs680 variants showed a strong association with oral glucose tolerance test values. CONCLUSION: The SNPs studied in this GDM had the same role as those identified in a previous T2DM meta-analysis, and showed positive association in the Indian women. Meta-analyses should be implemented to assess the IGF2 gene in GDM subjects.

Role of Apolipoprotein E gene polymorphism in the risk of familial hypercholesterolemia: a case-control study.

Familial Hypercholesterolemia (FH) is characterized by elevated cholesterol and based on biochemical, clinical, and genetic studies and FH disease, which was documented even with limited mutations. Earlier studies focused on Apolipoprotein E (ApoE) in variable diseases. The current study aimed to investigate the genetic association between FH disease and ApoE gene polymorphisms (rs429358 and rs7412) in the Saudi population. This case-control study was a hospital-based study performed in Saudi Arabia. Two hundred and four subjects in total were recruited and consisted of FH participants (n=104) and the controls (n=100). Common polymorphisms of ApoE gene (rs429358 and rs7412) were chosen and subjected to the genotyping using the TaqMan assay. Moreover, the ApoE risk allele E4 was proved significantly associated with FH cases when compared with controls (OR-2.24 (95%CI: 1.06-4.70); p=0.02). Lipid profile parameters were significantly associated (p<0.05); however, the ApoE alleles and lipid profiles were not correlated (p>0.05). In conclusion, the FH case-control study was associated with the E4 allele in the Saudi population. However, E4 allele was appeared as a reliable risk marker for lipid profiles, but not for ApoE alleles.

Q192R polymorphism in the PON1 gene and familial hypercholesterolemia in a Saudi population.

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant condition characterized by abnormal levels of low-density lipoprotein (LDL) in the blood. FH is a risk factor for atherosclerosis and cardiovascular disease. The relationship between the paraoxonase 1 (PON1) gene, atherosclerosis and coronary artery disease has not been studied in Saudi patients. OBJECTIVE: To investigate the genetic associations of the Q192R polymorphism in the PON1 gene with FH in Saudi patients. DESIGN: Case-control study. SETTING: Tertiary care center, Riyadh. METHODS: Two hundred Saudi patients were enrolled in this study, including 100 patients with FH and 100 healthy controls, during the period from January 2012 to March 2013. Serum was separated from coagulated blood (3 mL) and used for analysis of lipid profiles. Genomic DNA was isolated from anticoagulant-treated blood (2 mL). Genotyping for the Q192R polymorphism was performed by polymerase chain reaction-restriction fragment length polymorphism analysis, followed by 3% agarose gel electrophoresis. MAIN OUTCOME MEASURE: The strength of association between the Q192R polymorphism and FH in the Saudi population. RESULTS: We confirmed that QR versus QQ (odds ratio [OR]: 1.55; 95% confidence interval [CI]: 1.05-3.43; P=.03), QR+RR versus QQ (OR: 1.98; 95% CI: 1.13-3.49; P=.01), and R versus Q (OR: 1.68; 95% CI: 1.09- 2.59; P=.01) in the Q192R polymorphism were associated with FH in the Saudi population. CONCLUSION: In conclusion, the Q192R polymorphism in the PON1 gene is associated with FH in the Saudi population. Our results confirmed that the R allele, QR, and dominant model genotypes were associated with FH. LIMITATION: Only a single variant (Q192R) was analyzed, and the medical and family histories of the patients were not known.

Lexicon-enhanced sentiment analysis framework using rule-based classification scheme.

With the rapid increase in social networks and blogs, the social media services are increasingly being used by online communities to share their views and experiences about a particular product, policy and event. Due to economic importance of these reviews, there is growing trend of writing user reviews to promote a product. Nowadays, users prefer online blogs and review sites to purchase products. Therefore, user reviews are considered as an important source of information in Sentiment Analysis (SA) applications for decision making. In this work, we exploit the wealth of user reviews, available through the online forums, to analyze the semantic orientation of words by categorizing them into +ive and -ive classes to identify and classify emoticons, modifiers, general-purpose and domain-specific words expressed in the public's feedback about the products. However, the un-supervised learning approach employed in previous studies is becoming less efficient due to data sparseness, low accuracy due to non-consideration of emoticons, modifiers, and presence of domain specific words, as they may result in inaccurate classification of users' reviews. Lexicon-enhanced sentiment analysis based on Rule-based classification scheme is an alternative approach for improving sentiment classification of users' reviews in online communities. In addition to the sentiment terms used in general purpose sentiment analysis, we integrate emoticons, modifiers and domain specific terms to analyze the reviews posted in online communities. To test the effectiveness of the proposed method, we considered users reviews in three domains. The results obtained from different experiments demonstrate that the proposed method overcomes limitations of previous methods and the performance of the sentiment analysis is improved after considering emoticons, modifiers, negations, and domain specific terms when compared to baseline methods.

Association of Apolipoprotein E Polymorphism with Impact on Overweight University Pupils.

BACKGROUND: Obesity is known to be a complex disorder caused by both genetic and environmental factors. Patients with obesity tend to develop cardiovascular disease and type 2 diabetes. Previous studies have revealed that obesity is associated with genetic variations including those found in the apolipoprotein E (APOE) gene, which also affects lipid profiles. Hence, in this study, we aimed to perform a molecular characterization of APOE gene polymorphisms found in overweight subjects within a Saudi population. METHODS: A case-control study was performed consisting of 198 cases and 198 controls, selected from participants at the King Saud University. TaqMan genotyping was performed to characterize the APOE gene polymorphisms. RESULTS: The present study identified the E4 allele of the APOE gene as being significantly associated with obesity in the Saudi population (p = 0.0001). We found a statistically significant difference in the genotype distribution between cases and controls [for E3/E4: OR, 2.16 (95% CI: 1.19-3.91); p = 0.009]. DISCUSSION: Significant differences were observed in the APOE allele profiles (p < 0.001) and lipid profile parameters, including triglycerides and low-density lipoprotein among the obese patients compared with the non-obese control population. CONCLUSION: Our results confirm that APOE variants are associated with obesity 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.