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Background: Nasopharyngeal carcinoma (NPC) is one of the most common head and neck cancers worldwide. The majority of the new cases were from Asia and are the leading cause of cancer in China. The main treatment is surgery and radiotherapy with chemotherapy for advanced cases. With the advancement of targeted therapies, the objective of this study was to investigate the efficacy and safety of targeted therapies in NPC. Methods: Databases were searched from inception to Aug 2023, comparing molecular targeted therapies (MTT) with conventional chemotherapy, chemotherapy or surgery. Study screening, data extraction, and data analysis were conducted independently by two investigators. The Cochrane Risk of Bias tool 1.0 was used for the quality of the studies. Results: There was a total of ten eligible studies with 471 participants in the treatment arm and 469 participants in the control arm. Most studies had an unclear risk of bias assessment. Upon network meta-analysis, cetuximab was found to be the most effective regimen for complete response (CR), bevacizumab was found to be the most effective regimen for partial response (PR), nimotuzumab was found to be the most effective regimen for overall survival rate (OS) and progression-free survival (PFS). Pairwise meta-analysis showed that MTT had a significantly better response than conventional therapies in complete response. GRADE analysis reported low certainty of evidence for CR and very low certainty of evidence for other efficacy outcomes. There was a higher chance of bleeding with MTT and was statistically significant. Conclusion: It was observed that targeted therapies were found to be a promising strategy for NPC especially recurrent and/or metastatic NPC, but the most appropriate therapy still needs to be evaluated. Trial registration: This study was registered with the International Platform of Registered Systematic Review and Meta-analysis Protocols (INPLASY) with a registration number of INPLASY202380024. [ABSTRACT FROM AUTHOR]

Background: CONSTANS-like (CO-like, COL) are putative zinc-finger transcription factors known to play vital role in various plant biological processes such as control of flowering time, regulation of plant growth and development and responses to stresses. However, no systematic analysis of COL family gene regarding the plant development and stress response has been previously performed in any solanaceous crop. In the present study, a comprehensive genome-wide analysis of COL family genes in petunia has been conducted to figure out their roles in development of organs and stress response. Results: A total of 33 COL genes, 15 PaCOL genes in P. axillaris and 18 PiCOL genes in P. inflata, were identified in petunia. Subsequently, a genome-wide systematic analysis was performed in 15 PaCOL genes. Considering the domain composition and sequence similarity the 15 PaCOL and 18 PiCOL genes were phylogenetically classified into three groups those are conserved among the flowering plants. Moreover, all of the 15 PaCOL proteins were localized in nucleus. Furthermore, differential expression patterns of PaCOL genes were observed at different developmental stages of petunia. Additionally, transcript expression of 15 PaCOL genes under various abiotic and phytohormone treatments showed their response against stresses. Moreover, several cis-elements related to stress, light-responsive, hormone signaling were also detected in different PaCOL genes. Conclusion: The phylogenetic clustering, organ specific expression pattern and stress responsive expression profile of conserved petunia COL genes indicating their involvement in plant growth and development and stress response mechanism. This work provide a significant foundation for understanding the biological roles of petunia COL genes in plant growth, development and in stress response. [ABSTRACT FROM AUTHOR]

Background: Globally, cardiovascular diseases, chronic respiratory diseases, cancers, and diabetes are the four major non-communicable diseases (NCDs) contributing to more than 80% of mortality and morbidity due to NCDs. In Myanmar, the proportional mortality rate due to NCDs increased from 46.9% in 2000 to 68% in 2017. However, the trends and patterns of four major NCDs or their hospital admissions are not known. In this regard, we aimed to assess the trends and profile of admissions with four major NCDs using final diagnosis coded in International Classification of Diseases-2010 version (ICD-10) from medical record data of the large tertiary hospitals in different regions of Myanmar. Results: Of the 774,970 total admissions in the study hospitals, the median and interquartile range (IQR) age was 39 (25–55) years and 51.6% were males. Over a 6-year period, there was not only 2.2-fold increase in the number of admissions due to any of four major NCDs but also their proportion increased significantly from 18.8% in 2012 to 25.4% in 2017 (chi-square for trend, p value < 0.001). The number of admissions due to cancers, cardiovascular diseases, and chronic respiratory diseases also showed linear increasing trends at the rate of 1741 (95% CI 766 to 2715), 1797 (95% CI 345 to 3249), and 597 (95% CI 530 to 612) per year, respectively. Though the admissions with diabetes increased over the years, the rate of increase of 284 (95% CI − 60 to 628) per year was not statistically significant. Among cancer admissions, colorectal (13.1%), breast (13.0%), and lung (11.0%) cancers were the commonest. Stroke (30.6%) and ischemic heart disease (21.9%) admissions were the highest among the cardiovascular diseases. Chronic obstructive pulmonary disease (35.5%) and type 2 diabetes (53.9%) were commonest among chronic respiratory diseases and diabetes, respectively. Conclusion: There was a disproportionate increase in NCD admissions which requires tertiary health facilities to increase their infrastructure and trained workforce to cater to such admissions. The primary health care facilities have to be strengthened for prevention, early detection, and efficient management of NCDs to prevent life-threatening complications requiring hospitalization. [ABSTRACT FROM AUTHOR]

Background: The use of participatory monitoring and evaluation (M&E) approaches is important for guiding local decision-making, promoting the implementation of effective interventions and addressing emerging issues in the course of implementation. In this article, we explore how participatory M&E approaches helped to identify key design and implementation issues and how they influenced stakeholders' decision-making in eastern Uganda.Method: The data for this paper is drawn from a retrospective reflection of various M&E approaches used in a maternal and newborn health project that was implemented in three districts in eastern Uganda. The methods included qualitative and quantitative M&E techniques such as  key informant interviews, formal surveys and supportive supervision, as well as participatory approaches, notably participatory impact pathway analysis.Results: At the design stage, the M&E approaches were useful for identifying key local problems and feasible local solutions and informing the activities that were subsequently implemented. During the implementation phase, the M&E approaches provided evidence that informed decision-making and helped identify emerging issues, such as weak implementation by some village health teams, health facility constraints such as poor use of standard guidelines, lack of placenta disposal pits, inadequate fuel for the ambulance at some facilities, and poor care for low birth weight infants. Sharing this information with key stakeholders prompted them to take appropriate actions. For example, the sub-county leadership constructed placenta disposal pits, the district health officer provided fuel for ambulances, and health workers received refresher training and mentorship on how to care for newborns.Conclusion: Diverse sources of information and perspectives can help researchers and decision-makers understand and adapt evidence to contexts for more effective interventions. Supporting districts to have crosscutting, routine information generating and sharing platforms that bring together stakeholders from different sectors is therefore crucial for the successful implementation of complex development interventions. [ABSTRACT FROM AUTHOR]

Background: Hypertension is the leading risk factor for cardiovascular diseases, and little is known about trends in prevalence, awareness, treatment and the control of hypertension in Myanmar. This study aims at evaluating changes from 2004 to 2014 in the prevalence, awareness, treatment and control of hypertension in the Yangon Region, Myanmar, and to compare associations between hypertension and selected socio-demographic, behavioural- and metabolic risk factors in 2004 and 2014.Methods: In 2004 and 2014, household-based cross-sectional studies were conducted in urban and rural areas of Yangon Region using the WHO STEPS protocol. Through a multi-stage cluster sampling method, a total of 4448 and 1486 participated in 2004 and 2014, respectively, with the response rates above 89%.Results: From 2004 to 2014, there was a significant increase in the age-standardized prevalence of hypertension from 26.7% (95% CI:24.4-29.1) - 34.6% (32.2-37.1), as well as an awareness from 19.4% (17.2-21.9) to 27.8% (24.9-31.0), while treatment and control rates did not change. The age-standardized mean systolic blood pressure increased from 122.8 (SE) ± 0.82 mmHg in 2004 to 128.1 ± 0.53 mmHg in 2014, whereas diastolic blood pressure increased from 76.2 ± 0.35 mmHg to 80.9 ± 0.53 mmHg. In multivariate analyses, hypertension was significantly associated with age, alcohol consumption, overweight and diabetes in both 2004 and 2014, and additionally associated with low physical activity and hypercholesterolemia in 2004. Combining all data, a significant association between study-year and hypertension persisted in different models with an adjustment for socio-demographic variables and behavioural variables, but not when adjusting for a combination of socio-demographic variables, the metabolic variables, BMI and hypercholesterolemia.Conclusion: The prevalence of hypertension has risen from 2004 to 2014 in both urban and rural areas of the Yangon Region, while, the awareness, treatment and control rate of hypertension remains low in urban and rural areas among both males and females. It is likely that changes in the metabolic variables, BMI and hypercholesterolemia have contributed to an increase in the prevalence of hypertension from 2004 to 2014. Factors associated with hypertension in both study years were age, alcohol consumption, overweight and diabetes. A national hypertension control programme should be implemented in order to reduce premature deaths in Myanmar. [ABSTRACT FROM AUTHOR]

Background: The use of the point-of-care lateral flow lipoarabinomannan (LF-LAM) test may expedite tuberculosis (TB) diagnosis in HIV-positive patients. However, the test's clinical utility is poorly defined outside sub-Saharan Africa.Methods: The study enrolled consecutive HIV-positive adults at a tertiary referral hospital in Yangon, Myanmar. On enrolment, patients had a LF-LAM test performed according to the manufacturer's instructions. Clinicians managing the patients were unaware of the LF-LAM result, which was correlated with the patient's clinical course over the ensuing 6 months.Results: The study enrolled 54 inpatients and 463 outpatients between July 1 and December 31, 2015. On enrolment, the patients' median (interquartile range) CD4 T-cell count was 270 (128-443) cells/mm3. The baseline LF-LAM test was positive in 201/517 (39%). TB was confirmed microbiologically during follow-up in 54/517 (10%), with rifampicin resistance present in 8/54 (15%). In the study's resource-limited setting, extrapulmonary testing for TB was not possible, but after 6 months, 97/201 (48%) with a positive LF-LAM test on enrolment had neither died, required hospitalisation, received a TB diagnosis or received empirical anti-TB therapy, suggesting a high rate of false-positive results. Of the 97 false-positive tests, 89 (92%) were grade 1 positive, suggesting poor test specificity using this cut-off. Only 21/517 (4%) patients were inpatients with TB symptoms and a CD4 T-cell count of < 100 cells/mm3. Five (24%) of these 21 died, three of whom had a positive LF-LAM test on enrolment. However, all three received anti-TB therapy before death - two after diagnosis with Xpert MTB/RIF testing, while the other received empirical treatment. It is unlikely that knowledge of the baseline LF-LAM result would have averted any of the study's other 11 deaths; eight had a negative test, and of the three patients with a positive test, two received anti-TB therapy before death, while one died from laboratory-confirmed cryptococcal meningitis. The test was no better than a simple, clinical history excluding TB during follow-up (negative predictive value (95% confidence interval): 94% (91-97) vs. 94% (91-96)).Conclusions: The LF-LAM test had limited clinical utility in the management of HIV-positive patients in this Asian referral hospital setting. [ABSTRACT FROM AUTHOR]

Background: Emergence of artemisinin-resistant malaria in Southeast Asian countries threatens the global control of malaria. Although K13 kelch propeller has been assessed for artemisinin resistance molecular marker, most of the mutations need to be validated. In this study, artemisinin resistance was assessed by clinical and molecular analysis, including k13 and recently reported markers, pfarps10, pffd and pfmdr2. Methods: A prospective cohort study in 1160 uncomplicated falciparum patients was conducted after treatment with artemisinin-based combination therapy (ACT), in 6 sentinel sites in Myanmar from 2009 to 2013. Therapeutic efficacy of ACT was assessed by longitudinal follow ups. Molecular markers analysis was done on all available day 0 samples. Results: True recrudescence treatment failures cases and day 3 parasite positivity were detected at only the southern Myanmar sites. Day 3 positive and k13 mutants with higher prevalence of underlying genetic foci predisposing to become k13 mutant were detected only in southern Myanmar since 2009 and comparatively fewer mutations of pfarps10, pffd, and pfmdr2 were observed in western Myanmar. K13 mutations, V127M of pfarps10, D193Y of pffd, and T448I of pfmdr2 were significantly associated with day 3 positivity (OR: 6.48, 3.88, 2.88, and 2.52, respectively). Conclusions: Apart from k13, pfarps10, pffd and pfmdr2 are also useful for molecular surveillance of artemisinin resistance especially where k13 mutation has not been reported. Appropriate action to eliminate the resistant parasites and surveillance on artemisinin resistance should be strengthened in Myanmar. [ABSTRACT FROM AUTHOR]

Background: Human mammary tumor virus (HMTV) is 90-95% homologous to mouse mammary tumor virus (MMTV), one of the causal agents of murine mammary tumors. HMTV (MMTV-like) sequences were reported to be present in human breast cancers from several populations with a prevalence range of 0-78%; however, the prevalence of HMTV in breast cancers from Myanmar remains unknown. Methods: Fifty-eight breast cancer samples from Myanmar women were examined in this study. DNA was isolated from formalin-fixed paraffin-embedded specimens, and HMTV envelope sequences were detected by semi-nested PCR. The sequence of the PCR products was also confirmed. Results: Only 1.7% (1 of 58) of the breast cancers were positive for HMTV, and the sequence of PCR products was 98.9% identical to the reference HMTV sequence (GenBank accession No. AF243039). The tumor with HMTV was grade III invasive ductal carcinoma, 7.0 cm in size with lymph node metastasis (T3, N1, M0). Conclusions: We, for the first time, investigated the presence of HMTV in Myanmar breast cancer patients. In accordance with other Asian studies, the prevalence of HMTV in Myanmar was quite low, supporting the hypothesis that Asian breast cancers have different etiologies than in Western countries, where HMTV is more prevalent. [ABSTRACT FROM AUTHOR]

Background: Approximately 0.8% of adults aged 18-49 in Myanmar are seropositive for Human Immunodeiciency Virus (HIV). Identifying the demographic, epidemiological and clinical characteristics of people living with HIV (PLHIV) is essential to inform optimal management strategies in this resource-limited country. Methods: To create a "snapshot" of the PLHIV seeking anti-retroviral therapy (ART) in Myanmar, data were collected from the registration cards of all patients who had been prescribed ART at two large referral hospitals in Yangon, prior to March 18, 2016. Results and discussion: Anti-retroviral therapy had been prescribed to 2643 patients at the two hospitals. The patients' median [interquartile range (IQR)] age was 37 (31-44) years; 1494 (57%) were male. At registration, injecting drug use was reported in 22 (0.8%), male-to-male sexual contact in eleven (0.4%) and female sex work in eleven (0.4%), suggesting that patients under-report these risk behaviours, that health care workers are uncomfortable enquiring about them or that the two hospitals are under-servicing these populations. All three explanations appear likely. Most patients were symptomatic at registration with 2027 (77%) presenting with WHO stage 3 or 4 disease. In the 2442 patients with a CD4+ T cell count recorded at registration, the median (IQR) count was 169 (59-328) cells/mm³. After a median (IQR) duration of 359 (185-540) days of ART, 151 (5.7%) patients had died, 111 (4.2%) patients had been lost to follow-up, while 2381 were alive on ART. Tuberculosis (TB) co-infection was common: 1083 (41%) were already on anti-TB treatment at registration, while a further 41 (1.7%) required anti-TB treatment during follow-up. Only 21 (0.8%) patients were prescribed isoniazid prophylaxis therapy (IPT); one of these was lost to follow-up, but none of the remaining 20 patients died or required anti-TB treatment during a median (IQR) follow-up of 275 (235-293) days. Conclusions: People living with HIV in Yangon, Myanmar are generally presenting late in their disease course, increasing their risk of death, disease and transmitting the virus. A centralised model of ART prescription struggles to deliver care to the key afected populations. TB co-infection is very common in Myanmar, but despite the proven efficacy of IPT, it is frequently not prescribed. [ABSTRACT FROM AUTHOR]

Background: The spread of artemisinin-resistant Plasmodium falciparum is a global health concern. Myanmar stands at the frontier of artemisinin-resistant P. falciparum. Myanmar also has the highest reported malaria burden in Southeast Asia; it is integral in the World Health Organization's plan to eliminate malaria in Southeast Asia, yet few epidemiological data exist for the general population in Myanmar. Methods: This cross-sectional, probability household survey was conducted in Phyu township, Bago Region (central Myanmar), during the wet season of 2013. Interviewers collected clinical and behavioural data, recorded tympanic temperature and obtained dried blood spots for malaria PCR and serology. Plasmodium falciparum positive samples were tested for genetic mutations in the K13 region that may confer artemisinin resistance. Estimated type-specific malaria PCR prevalence and seroprevalence were calculated, with regression analysis to identify risk factors for seropositivity to P. falciparum. Data were weighted to account for unequal selection probabilities. Results: 1638 participants were sampled (500 households). Weighted PCR prevalence was low (n = 41, 2.5%) and most cases were afebrile (93%). Plasmodium falciparum was the most common species (n = 19. 1.1%) and five (26%) P. falciparum samples harboured K13 mutations. Plasmodium knowlesi was detected in 1.0% (n = 16) and Plasmodium vivax was detected in 0.4% (n = 7). Seroprevalence was 9.4% for P. falciparum and 3.1% for P. vivax. Seroconversion to P. falciparum was 0.003/year in the whole population, but 16-fold higher in men over 23 years old (LR test p = 0.016). Discussion: This is the first population-based seroprevalence study from central Myanmar. Low overall prevalence was discovered. However, these data suggest endemic transmission continues, probably associated with behavioural risk factors amongst working-age men. Genetic mutations associated with P. falciparum artemisinin resistance, the presence of P. knowlesi and discrete demographic risk groups present opportunities and challenges for malaria control. Responses targeted to working-age men, capable of detecting sub-clinical infections, and considering all species will facilitate malaria elimination in this setting. [ABSTRACT FROM AUTHOR]

Background: Non-communicable diseases (NCDs), malaria and tuberculosis dominate the disease pattern in Myanmar. Due to urbanization, westernized lifestyle and economic development, it is likely that NCDs such as cerebrovascular disease and ischemic heart disease are on a rise. The leading behavioral- and metabolic NCDs risk factors are tobacco smoke, dietary risks and alcohol use, and high blood pressure and body mass index, respectively. The study aimed at estimating the prevalence and determinants of hypertension, including metabolic-, behavioral- and socio-demographic risk factors.Methods: A nationwide, cross-sectional study of 7429 citizens of Myanmar aged 15-64 years were examined in 2009, using the WHO STEPS methodology. In separate analyses by gender, odds radios (ORs) and 95 % confidence intervals (CIs) for determinants of hypertension were estimated using logistic regression analyses. Confounders included in analyses were chosen based on Directed acyclic graphs (DAGs).Results: The prevalence of hypertension was 30.1 % (95 % CI: 28.4-31.8) in males and 29.8 % (28.5-31.1) in females. The mean BMI was 21.7 (SD 4.3) kg/m(2) for males and 23.0 (5.1) kg/m(2) for females. In fully adjusted analyses, we found in both genders increased OR for hypertension if the participants had high BMI (males: OR = 2.6; 95 % CI 2.1-3.3, females: OR = 2.3; 2.0-2.7) and high waist circumference (males: OR = 3.4; 1.8-6.8, females: OR = 2.7; 2.2-3.3). In both sexes, associations were also found between hypertension and low physical activity at work, or living in urban areas or the delta region. Being underweight and use of sesame oil in cooking was associated with lower odds for hypertension.Conclusions: The prevalence of hypertension was high and associated with metabolic-, behavioral- and socio-demographic factors. Due to expected rapid economic growth in Myanmar we recommend similar studies in the future to follow up and describe trends in the risk factors, especially modifiable factors, which will most likely be on rise. Studies on effectiveness on interventions are needed, and policies to reduce the burden of NCD risk factors should be implemented if proven effective in similar settings. [ABSTRACT FROM AUTHOR]

Background: Rice germplasm collections continue to grow in number and size around the world. Since maintaining and screening such massive resources remains challenging, it is important to establish practical methods to manage them. A core collection, by definition, refers to a subset of the entire population that preserves the majority of genetic diversity, enhancing the efficiency of germplasm utilization. Results: Here, we report whole-genome resequencing of the 137 rice mini core collection or Korean rice core set (KRICE_CORE) that represents 25,604 rice germplasms deposited in the Korean genebank of the Rural Development Administration (RDA). We implemented the Illumina HiSeq 2000 and 2500 platform to produce short reads and then assembled those with 9.8 depths using Nipponbare as a reference. Comparisons of the sequences with the reference genome yielded more than 15 million (M) single nucleotide polymorphisms (SNPs) and 1.3 M INDELs. Phylogenetic and population analyses using 2,046,529 high-quality SNPs successfully assigned rice accessions to the relevant rice subgroups, suggesting that these SNPs capture evolutionary signatures that have accumulated in rice subpopulations. Furthermore, genome-wide association studies (GWAS) for four exemplary agronomic traits in the KRIC_CORE manifest the utility of KRICE_CORE; that is, identifying previously defined genes or novel genetic factors that potentially regulate important phenotypes. Conclusion: This study provides strong evidence that the size of KRICE_CORE is small but contains high genetic and functional diversity across the genome. Thus, our resequencing results will be useful for future breeding, as well as functional and evolutionary studies, in the post-genomic era. [ABSTRACT FROM AUTHOR]

Background: Behaviour change communication (BCC) can improve malaria prevention and treatment behaviour. As a one of the activities under Myanmar Artemisinin Resistance Containment (MARC) programme, BCC have been conducting. This study aimed to evaluate the effectiveness of the behaviour change communication and community mobilization activities in MARC zones in Myanmar. Methods: A cross sectional descriptive survey was conducted in randomly selected 16 townships in Tier I and II areas of MARC zones by quantitative and qualitative approaches. Results: In 832 households resided by 4664 people, there were 3797 bed nets. Around 54 % were untreated while 45.6 % were insecticide-treated nets (ITN) and 36.2 % were long-lasting insecticide-treated nets (LLINs). Proportion of households with at least one ITN was 625 (75.12 %), proportion of households with at least one ITN for every two peoples was 487 (58.53 %), and proportion of existing ITNs used in previous night was 1225 (70.65 %) respectively. Nearly 23 % of households had old nets while 52 % had new and unused extra bed nets reflecting the adequacy. Interestingly, 38 % could not mention the benefit of the use of ITN/LLINs. Although 88.2 % knew the disease "malaria", 11.9 % could not be able to mention the symptoms. More than 80 % provided correct responses that mosquito bite can cause malaria while only 36.9 % could mention the blood test for malaria diagnosis. Only 36.6 % received malaria information within previous year but nearly 15 % could not recognize it. Mostly, 80 % of fever episodes were treated at rural health centers (38.24 %) followed by drug shops (17.65 %) and private clinics (16.18 %) respectively. Conclusions: Efforts should focus on correcting misconceptions about malaria transmission, prevention and universal use of ITN/LLINs. Although BCC activities have been documented, it is still necessary to intensify community mobilization through all accessible multiple channels in MARC areas. [ABSTRACT FROM AUTHOR]

Background: Data collected in clinical trials have been used to develop scoring systems that identify adults with malaria at greatest risk of death. One of these, the RCAM score, can be simply determined by measuring a patient's Glasgow Coma Score and respiratory rate on admission to hospital. However the safety of using the RCAM score to define high-risk patients has not been assessed outside of the clinical trial setting. Methods: A retrospective audit of medical records of all adults admitted with a diagnosis of malaria to two tertiary referral hospitals in Lower Myanmar in 2013 was undertaken. An RCAM score was calculated in all patients and related to their subsequent clinical course. Results: The recent decline in malaria hospitalizations at both sites continued in 2013. During the year 90 adults were hospitalized with malaria; 62 (69%) had Plasmodium falciparum mono-infection, 11 (12%) had Plasmodium vivax mono-infection, 17 (19%) had mixed infection. All seven (7.7%) deaths occurred in patients infected with P. falciparum. An admission RCAM score <2 identified all the patients that would survive to discharge (positive predictive value (95% confidence interval (CI)) 100% (94.9-100%) and also predicted a requirement for less supportive care: 9/70 (13%) patients with an admission RCAM score <2 required supportive care (blood transfusion, vasopressor support or oxygen supplementation) during their hospitalization compared with 12/20 (60%) patients with an admission RCAM score ≥2 (p < 0.0001). No patient with P. vivax mono-infection required supportive care during their hospitalization. Patients with an oxygen saturation ≤95% on room air on admission were more likely to die before discharge (odds ratio 17.3 (95% CI: 2.9-101.2) than patients with a higher oxygen saturation (p = 0.002). Conclusions: Even outside a clinical trial setting the RCAM score reliably identifies adults with malaria who are at greatest risk of death and can be safely used in the initial triage and management of these patients. [ABSTRACT FROM AUTHOR]

Background The rs17145738 single nucleotide polymorphism (SNP) near MLX interacting proteinlike/ transducin (beta)-like 2 (MLXIPL/TBL2) loci is associated with serum lipid levels, but the results are inconsistent in diverse ethnic/racial groups. The current study was to investigate the association of MLXIPL/TBL2 rs17145738 SNP and several environmental factors with serum lipid profiles in the Guangxi Mulao and Han populations. Methods A total of 649 subjects of Mulao nationality and 712 participants of Han nationality aged 16- 84 years were randomly selected from our previous stratified randomized samples. Genotyping was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Results Serum apolipoprotein (Apo) B levels were higher in Mulao than in Han (P < 0.001). There were no significant differences in the genotypic and allelic frequencies of the MLXIPL/TBL2 rs17145738 SNP between the two ethnic groups or between males and females. The T allele carriers had higher triglyceride (TG) and ApoB levels in Mulao, and higher total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) levels in Han than the T allele noncarriers (P < 0.05 for all). Subgroup analyses showed that the T allele carriers had higher ApoB levels in both Mulao and Han females than the T allele non-carriers, but the T allele carriers had lower ApoB levels in Han males than the T allele non-carriers (P < 0.05, respectively). The T allele carriers in Han had higher TC, high-density lipoprotein cholesterol (HDL-C) levels and ApoA1/ApoB ratio and lower TG levels in males, and higher LDL-C levels and lower ApoA1/ApoB ratio in females than the T allele non-carriers (P < 0.05 for all). Serum TC levels in the combined population of the two ethnic groups and in Han, and HDL-C levels in Han males were correlated with genotypes (P < 0.05 for all). Serum lipid parameters were also correlated with several environmental factors (P < 0.05-0.01). Conclusions The association of MLXIPL/TBL2 rs17145738 SNP and serum lipid profiles is different between the Mulao and Han populations. There is a sex-specific association in the both ethnic groups [ABSTRACT FROM AUTHOR]

Background: The association of rs3757354 single nucleotide polymorphism (SNP) in the E3 ubiquitin ligase myosin regulatory light chain-interacting protein (MYLIP, also known as IDOL) gene and serum lipid levels is not well known in the general population. The present study aimed to detect the association of rs3757354 SNP and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Method: A total of 627 subjects of Bai Ku Yao minority and 614 participants of Han nationality were randomly selected from our stratified randomized cluster samples. Genotyping of the rs3757354 SNP was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Results: The levels of serum total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), apolipoprotein (Apo) AI and ApoB were lower in Bai Ku Yao than in Han (P < 0.05- 0.001). The frequency of G allele was 49.92% in Bai Ku Yao and 56.27% in Han (P < 0.05). The frequencies of AA, GA and GG genotypes were 25.52%, 49.12% and 25.36% in Bai Ku Yao, and 19.87%, 47.72% and 32.41% in Han (P < 0.05); respectively. There were no significant differences in the genotypic and allelic frequencies between males and females in both ethnic groups. The levels of HDL-C in Bai Ku Yao were different among the genotypes (P < 0.05), the G allele carriers had higher serum HDL-C levels than the G allele noncarriers. The levels TC, HDL-C and ApoAI in Han were different among the genotypes (P < 0.05 for all), the participants with GA genotype had lower serum TC, HDL-C and ApoAI levels than the participants with AA genotype. These findings were found only in females but not in males. The levels of TG and HDL-C in Bai Ku Yao were correlated with the genotypes, whereas the levels of TC in Han, and TC, LDL-C in Han females were associated with the genotypes (P < 0.05 for all). Serum lipid parameters were also correlated with age, sex, alcohol consumption, cigarette smoking, blood pressure, and body mass index in both ethnic groups (P < 0.05-0.001). Conclusions: The present study suggests that the MYLIP rs3757354 SNP is associated with serum TC, HDL-C and ApoAI levels in the Bai Ku Yao and Han populations. But the association is different between the two ethnic groups. [ABSTRACT FROM AUTHOR]