Two ARGONAUTE proteins loaded with transposon-derived small RNAs are associated with the reproductive cell lineage in Arabidopsis.

In sexually propagating organisms, genetic, and epigenetic mutations are evolutionarily relevant only if they occur in the germline and are hence transmitted to the next generation. In contrast to most animals, plants are considered to lack an early segregating germline, implying that somatic cells can contribute genetic information to progeny. Here we demonstrate that 2 ARGONAUTE proteins, AGO5 and AGO9, mark cells associated with sexual reproduction in Arabidopsis (Arabidopsis thaliana) throughout development. Both AGOs are loaded with dynamically changing small RNA populations derived from highly methylated, pericentromeric, long transposons. Sequencing of single stem cell nuclei revealed that many of these transposons are co-expressed within an AGO5/9 expression domain in the shoot apical meristem (SAM). Co-occurrence of transposon expression and specific ARGONAUTE (AGO) expression in the SAM is reminiscent of germline features in animals and supports the existence of an early segregating germline in plants. Our results open the path to investigating transposon biology and epigenome dynamics at cellular resolution in the SAM stem cell niche.

Genome-wide association and polygenic risk score estimation of type 2 diabetes mellitus in Kinh Vietnamese-A pilot study.

A genome-wide association study (GWAS) is a powerful tool in investigating genetic contribution, which is a crucial factor in the development of complex multifactorial diseases, such as type 2 diabetes mellitus. Type 2 diabetes mellitus is a major healthcare burden in the Western Pacific region; however, there is limited availability of genetic-associated data for type 2 diabetes in Southeast Asia, especially among the Kinh Vietnamese population. This lack of information exacerbates global healthcare disparities. In this study, 997 Kinh Vietnamese individuals (503 with type 2 diabetes and 494 controls) were prospectively recruited and their clinical and paraclinical information was recorded. DNA samples were collected and whole genome genotyping was performed. Standard quality control and genetic imputation using the 1000 Genomes database were executed. A polygenic risk score for type 2 diabetes was generated in different models using East Asian, European, and mix ancestry GWAS summary statistics as training datasets. After quality control and genetic imputation, 107 polymorphisms reached suggestive statistical significance for GWAS (≤5 × 10-6) and rs11079784 was one of the potential markers strongly associated with type 2 diabetes in the studied population. The best polygenic risk score model predicting type 2 diabetes mellitus had AUC = 0.70 (95% confidence interval = 0.62-0.77) based on a mix of ancestral GWAS summary statistics. These data show promising results for genetic association with a polygenic risk score estimation in the Kinh Vietnamese population; the results also highlight the essential role of population diversity in a GWAS of type 2 diabetes mellitus.

Fcg-Former: Identification of Functional Groups in FTIR Spectra Using Enhanced Transformer-Based Model.

Deep learning (DL) is becoming more popular as a useful tool in various scientific domains, especially in chemistry applications. In the infrared spectroscopy field, where identifying functional groups in unknown compounds poses a significant challenge, there is a growing need for innovative approaches to streamline and enhance analysis processes. This study introduces a transformative approach leveraging a DL methodology based on transformer attention models. With a data set containing approximately 8677 spectra, our model utilizes self-attention mechanisms to capture complex spectral features and precisely predict 17 functional groups, outperforming conventional architectures in both functional group prediction accuracy and compound-level precision. The success of our approach underscores the potential of transformer-based methodologies in enhancing spectral analysis techniques.

Effect of MDR1 C3435T and CYP2C19 genetic polymorphisms on the outcome of Helicobacter pylori eradication treatment in children with gastritis and peptic ulcer, Vietnam.

BACKGROUND: Helicobacter pylori eradication therapy based on antimicrobial susceptibility in Vietnamese children currently get low efficiency. There are causes of treatment failure, among host genetic factors namely MDR1 C3435T and CYP2C19 affect the absorption and metabolism of proton pump inhibitors - a crucial component of eradication therapy. The study aimed to investigate the effect of MDR1 C3435T and CYP2C19 genetic polymorphisms on the cure rate. METHODS: 207 pediatric patients with gastritis and peptic ulcer infecting Helicobacter pylori completed the eradication therapy based on antimicrobial susceptibility with proton pump inhibitor esomeprazole. Eradication efficacy was assessed after at least 4 weeks by the urease breath test. MDR1 C3435T genetic polymorphism and CYP2C19 genotype were determined using a sequencing method based on Sanger's principle. RESULTS: Among 207 children recruited in this study, the ratio of CYP2C19 EM, IM, and PM phenotypes was 40.1%, 46.4%, and 16.9%, respectively. The patient with MDR1 3435 C/C polymorphism accounted for 43.0%, MDR1 3435 C/T was 40.1%, and MDR1 3435T/T was 16.9%. The cure rate of Helicobacter pylori infection in patients with CYP2C19 EM genotype was 78.3%; 83.3% of those with the IM genotype, and PM genotype was 96,4% (p = 0.07). Successful eradication rates for Helicobacter pylori were 85.4%, 86.7%, and 68.6% in patients with the MDR1 3435 C/C, C/T, and T/T, respectively (p = 0.02). Multiple logistic regression analysis found that MDR1 C3435T genetic polymorphisms of patients were significant independent risk factors for treatment failure, and CYP2C19 genotype did not affect Helicobacter pylori eradication. CONCLUSIONS: The Helicobacter pylori eradication rates by regimens based on antibiotic susceptibility and esomeprazole were not significantly different between the CYP2C19 phenotypes. The MDR1 C3435T polymorphism is one of the factors impacting Helicobacter pylori eradication results in children.

Spectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome.

BACKGROUND: WAS gene mutational analysis is crucial to establish a definite diagnosis of Wiskott-Aldrich syndrome (WAS). Data on the genetic background of WAS in Vietnamese patients have not been reported. METHODS: We recruited 97 male, unrelated patients with WAS and analyzed WAS gene mutation using Sanger sequencing technology. RESULTS: We identified 36 distinct hemizygous pathogenic mutations, with 17 novel variants, from 38 patients in the entire cohort (39.2%). The mutational spectrum included 14 missense, 12 indel, five nonsense, four splicing, and one non-stop mutations. Most mutations appear only once, with the exception of c.37C>T (p.R13X) and c.374G>A (p.G125E) each of which occurs twice in unrelated patients. CONCLUSION: Our data enrich the mutational spectrum of the WAS gene and are crucial for understanding the genetic background of WAS and for supporting genetic counseling.

Acute invasive fungal rhinosinusitis in post-COVID-19 patients in Vietnam.

BACKGROUND: Acute invasive fungal rhinosinusitis (AIFR) is a potentially lethal infection commonly found in immunocompromised patients. It is considered the most aggressive subtype of fungal sinusitis and can lead to severe morbidity and mortality. There was a significant increase in the incidence of AIFR in post-COVID-19 patients compared to AIFR cases before the COVID-19 pandemic. This study aimed to describe the clinical presentation of AIFR associated with COVID-19 illness. METHODS: A retrospective study included 22 patients diagnosed with AIFR with a recent COVID-19 infection. RESULTS: The most frequent disease associated with AIFR was diabetes mellitus (95.5%). The mycological analysis identified infection caused by Aspergillus species in 72.7% of patients. Along with stabilizing hemodynamic parameters and controlling any comorbidities, all patients in the present study underwent combined surgical debridement followed by antifungal medications. The overall survival rate was 72.7%. The chance of developing a fatal outcome was significantly higher if meningitis presented initially (odds ratio 35.63, p < 0.05). CONCLUSION: The presence of meningitis upon initial diagnosis is related to a significantly higher chance of developing a fatal outcome and should be considered, especially in AIFR patients previously treated for COVID-19 infections. Early diagnosis, early use of antifungal agents, aggressive surgical debridement, and control of comorbid conditions remain crucial in managing AIFR.

Factors associated with hepatitis B knowledge among people of Vietnamese ethnicity in Australia.

Despite high hepatitis B (HBV) prevalence among people of Vietnamese ethnicity in Australia and elsewhere, there is limited research on levels of HBV knowledge and factors associated with such knowledge. The aim of this study was to examine HBV knowledge and associated demographic and attitudinal factors among people of Vietnamese ethnicity in Australia. People of Vietnamese ethnicity (n = 966) were recruited through community events and social media groups to complete online surveys measuring HBV knowledge, attitudes towards HBV, levels of mistrust in Western medicine, and demographic characteristics. Findings of this study indicate that levels of knowledge are mixed, with gaps in knowledge related to transmission and treatment of the virus. Those with greater knowledge of HBV tended to be older, have higher levels of formal education, have been tested for HBV, and know someone living with HBV. Those with lower levels of knowledge tended to have more negative attitudes towards the virus and greater levels of mistrust in Western medicine. Given that health literacy is connected to effective communication from health providers, we suggest that there is a need for the development of health promotion and education resources targeted at people of Vietnamese ethnicity and translated into Vietnamese. We propose that such resources be developed in consultation with Vietnamese communities and health providers to ensure that they are culturally appropriate and sensitive to people of Vietnamese ethnicity living in Australia.

Expanded Multiplexing on Sensor-Constrained Microfluidic Partitioning Systems.

Microfluidics can split samples into thousands or millions of partitions, such as droplets or nanowells. Partitions capture analytes according to a Poisson distribution, and in diagnostics, the analyte concentration is commonly inferred with a closed-form solution via maximum likelihood estimation (MLE). Here, we present a new scalable approach to multiplexing analytes. We generalize MLE with microfluidic partitioning and extend our previously developed Sparse Poisson Recovery (SPoRe) inference algorithm. We also present the first in vitro demonstration of SPoRe with droplet digital PCR (ddPCR) toward infection diagnostics. Digital PCR is intrinsically highly sensitive, and SPoRe helps expand its multiplexing capacity by circumventing its channel limitations. We broadly amplify bacteria with 16S ddPCR and assign barcodes to nine pathogen genera by using five nonspecific probes. Given our two-channel ddPCR system, we measured two probes at a time in multiple groups of droplets. Although individual droplets are ambiguous in their bacterial contents, we recover the concentrations of bacteria in the sample from the pooled data. We achieve stable quantification down to approximately 200 total copies of the 16S gene per sample, enabling a suite of clinical applications given a robust upstream microbial DNA extraction procedure. We develop a new theory that generalizes the application of this framework to many realistic sensing modalities, and we prove scaling rules for system design to achieve further expanded multiplexing. The core principles demonstrated here could impact many biosensing applications with microfluidic partitioning.

Association of single nucleotide polymorphisms in the IRF6 gene with nonsyndromic cleft lip with or without cleft palate in Kinh Vietnamese patients.

BACKGROUND: The interferon regulatory factor 6 (IRF6) gene, which causes Van der Woude syndrome, is associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P). Single nucleotide polymorphisms (SNPs) in the IRF6 gene were identified as susceptibility indicators of this defect in several populations. To further evaluate its role in this birth defect, we conducted this study with the aim of identifying allele frequencies, genotype frequencies, and associations of 5 SNPs (rs2235373, rs2235371, rs2235375, rs2013162, and rs2236907) in the IRF6 gene with NSCL/P in Kinh Vietnamese patients. METHODS: A total of 132 patients with NSCL/P and 132 healthy individuals were included in our study group. Direct sequencing was performed to genotype the tag SNPs. Genetic models were used to compare genotype and allele frequencies between the case and control groups. RESULTS: In the recessive model, the genotypes C/C of rs2236907, C/C of rs2013162, G/G of rs2235375, and A/A of rs2235373 were associated with an increased risk of NSCL/P, whereas there was no clear association between rs2235371 and the malformation in any genetic model. When subgroup analysis was performed, we observed a similar risk trend in the cleft lip and palate, cleft palate only and cleft lip only phenotypes. In haplotype analysis, haplotype models of 5 tag SNPs were associated with increased risks of this defect in all phenotypic models (ORGCGCC/CCAA = 23.64, 95% CI 12.28-45.49, p < 0.0001). CONCLUSIONS: These findings point to a considerable contribution of rs2236907, rs2013162, rs2235373, and rs2235375 to the NSCL/P defect in Kinh Vietnamese individuals.

Field effect transistor based wearable biosensors for healthcare monitoring.

The rapid advancement of wearable biosensors has revolutionized healthcare monitoring by screening in a non-invasive and continuous manner. Among various sensing techniques, field-effect transistor (FET)-based wearable biosensors attract increasing attention due to their advantages such as label-free detection, fast response, easy operation, and capability of integration. This review explores the innovative developments and applications of FET-based wearable biosensors for healthcare monitoring. Beginning with an introduction to the significance of wearable biosensors, the paper gives an overview of structural and operational principles of FETs, providing insights into their diverse classifications. Next, the paper discusses the fabrication methods, semiconductor surface modification techniques and gate surface functionalization strategies. This background lays the foundation for exploring specific FET-based biosensor designs, including enzyme, antibody and nanobody, aptamer, as well as ion-sensitive membrane sensors. Subsequently, the paper investigates the incorporation of FET-based biosensors in monitoring biomarkers present in physiological fluids such as sweat, tears, saliva, and skin interstitial fluid (ISF). Finally, we address challenges, technical issues, and opportunities related to FET-based biosensor applications. This comprehensive review underscores the transformative potential of FET-based wearable biosensors in healthcare monitoring. By offering a multidimensional perspective on device design, fabrication, functionalization and applications, this paper aims to serve as a valuable resource for researchers in the field of biosensing technology and personalized healthcare.

Identify Primary Air Pollution Sources of BTEX by Using Positive Matrix Factorization (PMF): A Case Study of Ho Chi Minh City, Vietnam.

Ho Chi Minh City (HCMC) is one of the main socioeconomic and financial centers of Vietnam. The city also faces serious air pollution. However, the city polluted with benzene, toluene, ethylbenzene, and xylene (BTEX) has rarely been studied. We used positive matrix factorization (PMF) to analyze BTEX concentrations measured at two sampling locations to identify the main sources of BTEX in HCMC. The locations represented residential area (i.e., To Hien Thanh) and industrial area (i.e., Tan Binh Industrial Park). At the To Hien Thanh location, the average concentrations of benzene, ethylbenzene, toluene, and xylene were 6.9, 14.4, 4.9, and 12.7 µg/m3, respectively. At the Tan Binh location, the average concentrations of benzene, ethylbenzene, toluene, and xylene were 9.8, 22.6, 2.4, and 9.2 µg/m3, respectively. The results showed that PMF was a reliable model for source apportionment in HCMC. Traffic activities were the main sources of BTEX. Besides, industrial activities also contributed to BTEX emissions, especially the location near the industrial park. The majority of BTEXs at the To Hien Thanh sampling site come from traffic sources accounting for 56.2%. Activities from traffic and photochemical reactions (42.7%) and industrial sources (40.5%) were the main sources affecting BTEX emissions at the sampling site of Tan Binh Industrial Park. This study can be used as a reference for mitigation solutions to reduce the BTEX emission in HCMC.

Investigating individual intention to make money: can motivation of wealth be a socio-economic leverage?

Wealth is an indicator of individual well-being. Increasing wealth is a pathway to achieving socio-economic development. Thus, it is imperative to shed light on factors that induce individual intention to increase wealth. This study investigates the effects of perception of wealth, perception of the rich, and behavioral control on personal intention to make money. A stratified sampling method was employed to obtain a sample of 991 respondents from Northern, Central, and Southern Vietnam who were invited to participate in a structured questionnaire survey in 2021. We utilized the Confirmatory Factor Analysis to validate the proposed model and tested the hypotheses using the Partial Least Squared-SEM. Empirical results highlight that individual behavioral control, explicit perception of the rich, and perception of wealth are essential determinants of individual intention to make money. Interestingly, motivation of wealth positively moderates the relationship between the perception of wealth and personal intention to make money. In addition, post-Covid-19 opportunities positively moderate two-pair relationships: perception of wealth-individual intention to make money and explicit perception of the rich-individual intention to make money. Insights from this study imply appropriate policies for the government to enhance the inspiration of people to work harder, leading to sustainable development.

Diverse clinical manifestations of Cantú syndrome: The first case series in Vietnam.

Cantú syndrome (CS) is an extremely rare autosomal dominant hereditary disease characterized by congenital hypertrichosis, distinct coarse facial features, cardiac defects, and other abnormalities in the skeletal and neurological systems. At present, cases with pathognomonic clinical manifestations are increasingly confirmed by genetic analysis. Two causative genes for CS are the well-known ABCC9 and the more rarely reported KCNJ8. Here, we report three Vietnamese children with CS, confirmed through genetic testing, presenting de novo ABCC9 mutations. The patients shared some common clinical manifestations, including congenital hypertrichosis, distinctive facial features, and a history of polyhydramnios during pregnancy. Concerning the various cardiac and neurological problems in the lifetime of patients with CS, an accurate diagnosis and appropriate management, especially genetic counseling, should be clinically applied in CS. Thus, our findings might modestly contribute to the global CS data, providing practical insights into CS manifestations.

Characterizing Aptamers with Reconfigurable Chiral Plasmonic Assemblies.

Aptamers have emerged as versatile affinity ligands and as promising alternatives to protein antibodies. However, the inconsistency in the reported affinities and specificities of aptamers has greatly hindered the development of aptamer-based applications. Herein, we present a strategy to characterize aptamers by using DNA origami-based chiral plasmonic assemblies as reporters and establishing a competitive hybridization reaction-based thermodynamic model. We demonstrate the characterization of several DNA aptamers, including aptamers for small molecules and macromolecules, as well as aptamers with high and low affinities. The presented characterization scheme can be readily adapted to a wide selection of aptamers. We anticipate that our approach will advance the development of aptamer-based applications by enabling reliable and reproducible characterization of aptamers.

Spectrum of HBB gene mutations among 696 ß-thalassemia patients and carriers in Southern Vietnam.

BACKGROUND: Thalassemias are common inherited blood disorders that have been extensively studied in Asia. Thus far, data on mutations of the HBB gene in Vietnamese patients with ß-thalassemia are limited to small studies. METHODS: We recruited 696 ß-thalassemia patients and carriers in southern Vietnam and analyzed for the HBB gene mutations using Sanger sequencing technology. RESULTS: We documented 27 types of known mutations and 10 types of novel variants on 737 alleles out of 1392 surveyed alleles. The three most common mutations, which account for more than ¾ of all mutant alleles, were c.79G > A (HbE), c.124_127delTTCT, and c.52A > T. The novel variants were mainly located in 5' untranslated region (c.-92delC and c.-67A > G) and 3' untranslated region (c.*4C > T, c.*116_*117insA, c.*142 T > C, c.*156G > C, c.*176_*177insA, and c.*247 T > C), except for one in intron 2 (c.316-99 T > G) and one in exon 3 (c.385delG). CONCLUSION: We provide here a comprehensive mutation spectrum of the HBB gene in Southern Vietnam, which is crucial for carrier screening and prenatal diagnosis in the future.

Five new seco-labdane-type diterpenoids from Caesalpinia latisiliqua.

Five new seco-labdane-type diterpenoids, caesalatisics A-E (1-5), were isolated from the leaves of Caesalpinia latisiliqua (Cav.) Hattink. Their chemical structures were determined using 1D and 2D NMR, mass spectra, and circular dichroism spectroscopies.

The effects of NUDT15 and TPMT variants on mercaptopurine treatment in Vietnamese pediatric acute lymphoblastic leukemia patients.

6-mercaptopurine (6-MP) plays a critical role in the treatment of pediatric acute lymphoblastic leukemia (ALL). NUDT15 and TPMT gene variants have been strongly associated with myelotoxicity caused by using 6-MP. Therefore, the purpose of this study is to investigate the frequency of NUDT15 and TPMT polymorphisms, as well as the impact of NUDT15 variants on the use of 6-MP to treat pediatric ALL in Vietnam. Sanger sequencing was applied to detect NUDT15 and TPMT gene variants in 70 pediatric ALL patients. Duration of drug interruption, level of neutropenia, and 6-MP tolerance dose were recorded. NUDT15 variants were detected from 23 out of 70 (32.9%) patients. Three well-known haplotype variants were identified as NUDT15 *2 (p.V18_V19insGV and p.R139C), *3 (p.R139C), and *6 (p.V18_V19insGV); besides, a novel NUDT15 p.R11Q was not previously reported. The NUDT15 wild-type, heterozygous variant, and homozygous variant genotypes were 67.1%, 30.1%, and 2.8%, respectively. Two TPMT heterozygous polymorphisms were TPMT*3C and *6, accounted for 2.8%. Patients with intermediate and low activity NUDT15 were given the median 6-MP tolerance dose of 55.2 and 37.2 versus 69.5 mg/m2/day of patients with NUDT15 normal activity (p = 0.0001). Patients with homozygous variant diplotype were drastically sensitive to 6-MP, with an average dose intensity of 49.6%, compared to 73.6% and 92.7% of those with heterozygous and wild-type diplotype, respectively (p = 0.0001). Our results suggest that 6-MP dose adjustment should be based on NUDT15 variants in pediatric Vietnamese ALL patients.

Analysis of input set characteristics and variances on k-fold cross validation for a Recurrent Neural Network model on waste disposal rate estimation.

The use of machine learning techniques in waste management studies is increasingly popular. Recent literature suggests k-fold cross validation may reduce input dataset partition uncertainties and minimize overfitting issues. The objectives are to quantify the benefits of k-fold cross validation for municipal waste disposal prediction and to identify the relationship of testing dataset variance on predictive neural network model performance. It is hypothesized that the dataset characteristics and variances may dictate the necessity of k-fold cross validation on neural network waste model construction. Seven RNN-LSTM predictive models were developed using historical landfill waste records and climatic and socio-economic data. The performance of all trials was acceptable in the training and validation stages, with MAPE all less than 10%. In this study, the 7-fold cross validation reduced the bias in selection of testing sets as it helps to reduce MAPE by up to 44.57%, MSE by up to 54.15%, and increased R value by up to 8.33%. Correlation analysis suggests that fewer outliers and less variance of the testing dataset correlated well with lower modeling error. The length of the continuous high waste season and length of total high waste period appear not important to the model performance. The result suggests that k-fold cross validation should be applied to testing datasets with higher variances. The use of MSE as an evaluation index is recommended.

Cell lineage- and expression-based inference of the roles of forkhead box transcription factor Foxc2 in craniofacial development.

BACKGROUND: Foxc2 is a member of the winged helix/forkhead (Fox) box family of transcription factors. Loss of function of Foxc2 causes craniofacial abnormalities such as cleft palate and deformed cranial base, but its role during craniofacial development remains to be elucidated. RESULTS: The contributions of Foxc2-positive and its descendant cells to the craniofacial structure at E18.5 were examined using a tamoxifen-inducible Cre driver mouse (Foxc2-CreERT2) crossed with the R26R-LacZ reporter mouse. Foxc2 expression at E8.5 is restricted to the cranial mesenchyme, contributing to specific components including the cranial base, sensory capsule, tongue, upper incisor, and middle ear. Expression at E10.5 was still positively regulated in most of those regions. In situ hybridization analysis of Foxc2 and its closely related gene, Foxc1, revealed that expression domains of these genes largely overlap in the cephalic mesenchyme. Meanwhile, the tongue expressed Foxc2 but not Foxc1, and its development was affected by the neural crest-specific deletion of Foxc2 in mice (Wnt1-Cre; Foxc2fl/fl ). CONCLUSIONS: Foxc2 is expressed in cranial mesenchyme that contributes to specific craniofacial tissue components from an early stage, and it seems to be involved in their development in cooperation with Foxc1. Foxc2 also has its own role in tongue development.

Association of Single-Nucleotide Polymorphisms of MAFB Gene with Nonsyndromic Cleft Lip with or without Cleft Palate in Kinh Vietnamese Patients.

Background Cleft lip with or without palate (CL/P) is the most common orofacial birth defect. Single-nucleotide polymorphisms (SNPs) in MAFB gene (V-Maf avian musculoaponeurotic fibrosarcoma oncogene homolog B) were identified as susceptible to this defect in a genome-wide association study. To further evaluate its role in this birth defect, we conducted this study with the aim of identifying allele frequencies, genotype frequencies, and association of SNPs rs13041247, rs6065259, and rs6072081 of MAFB gene with nonsyndromic cleft lip/palate (NCL/P) in Kinh Vietnamese patients. Methods We performed case-control study involved 79 patients with NCL/P and 77 healthy controls. DNAs were extracted from participants' saliva and tetra-amplification refractory mutation system polymerase chain reaction (tetra-ARMS PCR) was used for genotyping SNPs. Results SNPs of MAFB gene were genotyped using the Tetra-ARMS PCR method. We found that genotype CT of rs13041247 was associated with an increased risk of NCL/P in Kinh Vietnamese (odds ratio TCTT [OR TC/TT ] = 1.63, 95% confidence interval [CI] = 0.83-3.19, p = 0.17). The G allele genotypes of SNP rs6072081 increase high risk for the malformation, statistically significant result (OR GG/AA = 7.06, 95% CI = 2.13-23.42, p < 0.001). There is no clear association between rs6065259 and CL/P (OR AA/GG = 0.75, 95% CI = 0.22-2.50, p = 0.32; OR AG/GG = 1.53, 95% CI = 0.79-2.97, p = 0.32). When the patients were divided into the phenotypic subgroups, there was a similar significant trend between the patients and controls for all SNPs. Conclusions Our study provides further evidence of role of MAFB gene variations with NCL/P defect in Kinh Vietnamese.