UNASSIGNED: Polymorphisms in the vitamin D receptor (VDR) play an effective role in the susceptibility of pulmonary tuberculosis (TB). Given the importance of this polymorphism and its association with pulmonary TB, this study aimed to investigate the prevalence of VDR polymorphisms in people with pulmonary TB.
UNASSIGNED: The search process was performed from 2009 to 2023 according to PRISMA (Preferred reporting items for systematic reviews and meta-analyses). The strengthening of the reporting of observational studies in epidemiology (STROBE) checklist was used to qualify the articles. The data was entered into STATA version 14 software, then the fixed effects model and the random effects model, effect size (ES), and Q test (P < 0.10) were used for data analysis at a confidence interval level (CI) of 95%. Two-sided statistical tests were considered with α=0.05.
UNASSIGNED: In this research, 28 articles were analyzed. Polymorphisms showed a significant relationship with susceptibility to pulmonary TB (P = 0.000), and significant heterogeneity (P = 0.000) was seen between polymorphisms. FokI (95% CI: 0.39-0.46, P = 0.000, ES = 43%), ApaI (95% CI: 0.31-0.48, P = 0.000, ES = 39%) and BsmI (95% CI: 0.24-0.50, P = 0.000, ES = 37%) showed the most frequent gene polymorphisms after TaqI (95% CI: 0.34-0.77, P = 0.000, ES = 56%).
UNASSIGNED: ApaI, BsmI, FokI, and TaqI polymorphisms were found in patients suffering from pulmonary TB. Polymorphisms related to the TaqI gene were the most frequent. Controlling and prescribing vitamin D may be needed in these patients.

This scoping review explores the impact of genetic polymorphisms on the pharmacokinetics and treatment responses of mycophenolic acid (MPA), an immunosuppressant. The study includes 83 articles from 1226 original studies, focusing on transplantation (n = 80) and autoimmune disorders (n = 3). Genetic variants in uridine 5\'-diphospho-glucuronosyltransferase (UGT1A9, UGT1A8 and UGT2B7) and transmembrane transporters (ABCC2, SLCO1B1, SLCO1B3 and ABCB1) significantly affected MPA\'s pharmacokinetics and susceptibility to its adverse effect. Whereas variants in several genes including UGT1A9, UGT2B7, IMPDH1 and IMPDH2 have been associated with a higher risk of transplant rejection. However, there is a lack of studies on MPA\'s impact on autoimmune disorders and limited research on the Asian population. The findings underscore the need for further research on MPA\'s impact across different populations and diseases, particularly among other Asian ethnic groups, to advance personalized medicine in MPA therapy.
[Box: see text].

BACKGROUND: The association between Apolipoprotein A5 (APOA5) genetic polymorphisms and susceptibility to metabolic syndrome (MetS) has been established by many studies, but there have been conflicting results from the literature. We performed a meta-analysis of observational studies to evaluate the association between APOA5 gene polymorphisms and the prevalence of MetS.
METHODS: PubMed, Web of Science, Embase, and Scopus were searched up to April 2024. The random effects model was used to estimate the odds ratios (ORs) and 95% confidence intervals (CI) of the association between APOA5 gene polymorphisms and the prevalence of MetS development. The potential sources of heterogeneity were evaluated by subgroup analyses and sensitivity analyses.
RESULTS: A total of 30 studies with 54,986 subjects (25,341 MetS cases and 29,645 healthy controls) were included. The presence of rs662799 and rs651821 polymorphisms is associated with an approximately 1.5-fold higher likelihood of MetS prevalence (OR = 1.42, 95% CI: 1.32, 1.53, p < 0.001; I2 = 67.1%; P-heterogeneity < 0.001; and OR = 1.50, 95% CI: 1.36-1.65, p < 0.001), respectively. MetS is also more prevalent in individuals with the genetic variants rs3135506 and rs2075291. There was no evidence of a connection with rs126317.
CONCLUSIONS: The present findings suggest that polymorphisms located in the promoter and coding regions of the APOA5 gene are associated with an increased prevalence of MetS in the adult population. Identifying individuals with these genetic variations could lead to early disease detection and the implementation of preventive strategies to reduce the risk of MetS and its related health issues. However, because the sample size was small and there was evidence of significant heterogeneity for some APOA5 gene polymorphisms, these results need to be confirmed by more large-scale and well-designed studies.

Increasing evidence has suggested a strong association of hepatocellular carcinoma (HCC) susceptibility and Gln223Arg (rs1137101) and Lys109Arg (rs1137100) polymorphisms in leptin receptor (LEPR) genes. To provide a quantitative assessment for such correlation, we reviewed all related systems and conducted meta-analysis for case and control researches. A literature search of Web of Science, EMBASE, PubMed, Scopus as well as China National Knowledge Infrastructure databases was collected. 95% confidence intervals (95% CIs) together with odds ratios (ORs) were calculated. Five case-control researches consisting of 1323 cases and 1919 control cases were incorporated into meta-analysis. Researches indicated A-allelic and AA genotype of rs1137101 were substantially related to boosted susceptibility of hepatitis B virus (HBV)-related HCC (mutant model, OR = 1.81, 95% CI = 1.36-2.41, p < .001; allelic model, OR = 1.55, 95% CI = 1.32-1.83, p < .001). On the contrary, we observed GG genotype of rs1137101 substantially related to reduced risk of HBV-related HCC (wild model, OR 0.59, 95%CI = 0.46-0.75, p < .001). We observed AA genotype of rs1137100 relevant to boosted HCC risk (mutant model, OR = 1.51, 95%CI = 1.14-2.01, p = .005) as well as in those with HBV-related HCCs (homozygous model, OR = 2.12, 95%CI = 1.49-3.02, p < .001; mutant model, OR = 1.67, 95%CI = 1.23-2.26, p = .001). G-allele and AA genotype of rs1137101 might be in connection with boosted HBV-related HCC susceptibility, and wild-type GG genotype might prevent diseases. AA genotype of rs1137100 might also improve HBV-related HCC susceptibility. Such conclusions ought to be validated by larger and better-designed researches.

BACKGROUND: Single-nucleotide polymorphisms (SNPs) in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene are known to be associated with susceptibility to several cerebrovascular diseases, including ischemic stroke (IS). The aims of this study was to evaluate associations between PCSK9 gene polymorphisms and the risk of IS. Based on previous reports linking PCSK9 SNPs to plasma lipid levels and to atherosclerosis, and to inconsistencies in the reported associations between the SNPs, plasma lipid levels and IS risk, we choose the PCSK9 rs505151, rs529787, and rs17111503 to performe the association analysis.
METHODS: Using multiple databases, all relevant case-control and cohort studies that matched our search criteria were collected. Quality assessment of included studies was performed using the Newcastle-Ottawa Scale. Demographic and genotype data were extracted from each study, and meta-analysis was performed using Stata/MP 17.0. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using fixed and random effects models.
RESULTS: A critical evaluation was conducted on ten case-control studies, involving a total of 2426 cases and 2424 controls. Pooled results from the allelic models indicated the PCSK9 rs505151 G allele (OR: 1.41, 95% CI: 1.06-1.87, p = 0.019, I2 = 53.9%) and the PCSK9 rs17111503 A allele (OR: 1.38, 95% CI: 1.22-1.55, p < 0.001, I2 = 43.5%) were significantly associated with IS. Study qualities ranged from moderate (n = 4) to good (n = 6). Begg\'s and Egger\'s tests results indicated there was no evidence of publication bias in the findings (p > 0.05).
CONCLUSIONS: This meta-analysis demonstrated that G allele variant of PCSK9 rs505151 and A allele variant of PCSK9 rs17111503 were associated with an increased risk of IS. Based on our findings, these SNPs could serve as potential targets for the diagnosis and treatment of IS. The integration of information on genetic polymorphism into IS risk prediction model may be beneficial in routine clinical practice.

Background: An increasing number of studies have suggested the relationship between single-nucleotide polymorphisms (SNPs) in toll-like receptor (TLR) genes and gastric cancer (GC) susceptibility; however, the available evidence is contradictory. This meta-analysis aimed to comprehensively evaluate whether the SNPs within the TLR family are related to GC development. Methods: PubMed, Scopus, and China National Knowledge Infrastructure (CNKI) were systematically searched up to May 2023 to obtain the pertinent publications. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were applied to examine the associations using the random-effects model. Results: A total of 45 studies with 25,831 participants (cases: 11,308; controls: 14,523) examining the relation of 18 different SNPs in the TLR family to GC were analyzed. Variations in TLR-4 rs4986790, TLR-4 rs4986791, TLR-5 rs5744174, and TLR-9 rs187084 were significantly associated with increased risk of GC in different genetic models. No significant association was detected for TLR-2-196 to -174de (Delta22), TLR-2 rs3804100, TLR-4 rs11536889, TLR-4 rs11536878, TLR-4 rs2770150, TLR-4 rs10116253, TLR-4 rs1927911, TLR-4 rs10983755, TLR-4 rs10759932, TLR-4 rs1927914, and TLR-10 rs10004195. Conclusion: These findings indicate that variations in TLR-4, TLR-5, and TLR-9 genes were found to be potential risk factors for GC.

UNASSIGNED: Pain is the most common acute symptom following radiation therapy (RT) for head and neck cancer (HNC). The multifactorial origin of RT-induced pain makes it highly challenging to manage. Multiple studies were conducted to identify genetic variants associated with cancer pain, however few of them focused on RT-induced acute pain. In this review, we summarize the potential mechanisms of acute pain after RT in HNC and identify genetic variants associated with RT-induced acute pain and relevant acute toxicities.
UNASSIGNED: A comprehensive search of Ovid Medline, EMBASE and Web of Science databases using terms including \"Variants\", \"Polymorphisms\", \"Radiotherapy\", \"Acute pain\", \"Acute toxicity\" published up to February 28, 2022, was performed by two reviewers. Review articles and citations were reviewed manually. The identified SNPs associated with RT-induced acute pain and toxicities were reported, and the molecular functions of the associated genes were described based on genetic annotation using The Human Gene Database; GeneCards.
UNASSIGNED: A total of 386 articles were identified electronically and 8 more articles were included after manual search. 21 articles were finally included. 32 variants in 27 genes, of which 25% in inflammatory/immune response, 20% had function in DNA damage response and repair, 20% in cell death or cell cycle, were associated with RT-inflammatory pain and acute oral mucositis or dermatitis. 4 variants in 4 genes were associated with neuropathy and neuropathic pain. 5 variants in 4 genes were associated with RT-induced mixed types of post-RT-throat/neck pain.
UNASSIGNED: Different types of pain develop after RT in HNC, including inflammatory pain; neuropathic pain; nociceptive pain; and mixed oral pain. Genetic variants involved in DNA damage response and repair, cell death, inflammation and neuropathic pathways may affect pain presentation post-RT. These variants could be used for personalized pain management in HNC patients receiving RT.

BACKGROUND: Solute Carrier Family 22 Member 1 (SLC22A1, also known as OCT1) protein has a vital role in the metabolism of metformin, a first-line anti-diabetes medication. Genetic poly-morphism in SLC22A1 influences individual response to metformin.
OBJECTIVE: This review aims to compile the current knowledge about the effects of SLC22A1 genetic polymorphism on metformin pharmacokinetics and HbA1c levels.
METHODS: We followed the PRISMA 2020 standards to conduct a systematic review. We searched the publications for all appropriate evidence on the effects of SLC22A1 genetic polymorphism on metformin pharmacokinetics and HbA1c from January 2002 to December 2022.
RESULTS: Initial database searches identified 7,171 relevant studies. We reviewed 155 titles and abstracts after deleting duplicates. After applying inclusion and exclusion criteria, 23 studies remained.
CONCLUSIONS: Three studies found that rs12208357, rs34059508, and G465R had a considerable impact (p < 0.05) on metformin pharmacokinetics, resulting in increased metformin plasma (Cmax), a higher active amount of drug in the blood (AUC), and lower volume of distribution (Vd) (p<0.05). SLC22A1 polymorphisms with effects on HbA1c include rs628031 (four of seven studies), rs622342 (four of six studies), rs594709 (one study), rs2297374, and rs1867351 (one of two studies), rs34130495 (one study), and rs11212617 (one study) (p < 0.05).

Objective: Oxidative stress is thought to play an important role in the pathophysiology of pre-eclampsia. The glutathione S-transferases (GST) are a group of enzymes that protect cells from oxidative stress. Published data on the association between the GSTT1 and GSTM1 polymorphisms and pre-eclampsia risk are controversial. A meta-analysis was performed to assess whether the polymorphisms of GSTT1 and GSTM1 are associated with pre-eclampsia risk.Methods: Medline, Embase, China National Knowledge Infrastructure, and Chinese Biomedicine Databases were searched to identify eligible studies. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) for GSTT1 and GSTM1 polymorphisms and pre-eclampsia were appropriately derived from fixed-effects or random effects models.Results: A total of 11 studies were enrolled in this meta-analysis. The pooled analyses revealed that polymorphisms of GSTT1 and GSTM1 was not associated with pre-eclampsia risk. Heterogeneity among studies was founded in GSTT1 polymorphism. Galbraith plot analyses were performed to assess the source of heterogeneity and one study was found to be contributor of heterogeneity. The heterogeneity decreased significantly after excluding that study.Conclusion: Present meta-analysis reveals that GSTT1 and GSTM1 polymorphisms may be not correlated to pre-eclampsia risk.

OBJECTIVE: The aim of this meta-analysis is to investigate the relationship between interleukin (IL)-10 levels and its polymorphism and Takayasu arteritis (TAK).
METHODS: Five databases including PubMed, Web of Science, Ovid, Sinomed and China National Knowledge Infrastructure (CNKI) were gone through from inception to March 31, 2022. Studies were screened according to the inclusion and exclusion criteria. Newcastle-Ottawa Scale (NOS) was applied to assess study quality. Strengths of association were evaluated by odds ratio (OR) and 95% CI. The T v. t (allele contrast), TT v. tt (homozygous contrast), Tt vs tt (heterozygous contrast), TT + Tt vs tt (dominant contrast) and TT vs Tt + tt (recessive contrast) models were adopted.
RESULTS: Seven studies were included. No significant relationship between IL-10 and TAK was detected in the included patients (P > 0.05). The levels of IL-10 were lower in the active group than those in the stable group, which was -0.47 (95% CI: -0.93, 0.00) (P = 0.05). No significant relationships between IL-10 and TAK were found under all contrasts for polymorphisms rs1800871, rs1800872 and rs1800896 (P > 0.05).
CONCLUSIONS: There was no significant difference in IL-10 levels between TAK patients and control subjects. The levels of IL-10 were lower in TAK patients in the active stage. There was no significant association between IL-10 gene polymorphisms and TAK. Further well-designed studies with larger sample sizes in patients with different stages are needed.