Human Gene最新文献_第3页

INHBB variants as genetic determinants of breast density modulate breast cancer risk 作为乳腺密度遗传决定因素的 INHBB 变异可调节乳腺癌风险

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Human Gene Pub Date : 2024-08-13 DOI: 10.1016/j.humgen.2024.201326

{"title":"INHBB variants as genetic determinants of breast density modulate breast cancer risk","authors":"","doi":"10.1016/j.humgen.2024.201326","DOIUrl":"10.1016/j.humgen.2024.201326","url":null,"abstract":"<div><h3>Background</h3><p>One of the most common cancers worldwide is breast cancer (BC), which is influenced by genetics and environmental factors such as mammographic density. Studies suggested <em>INHBB</em> genetic polymorphisms as potential risk factors for breast cancer/density. Therefore, this study was conducted to validate this correlation in a cohort of the Iranian population.</p></div><div><h3>Methods</h3><p>Five ml of peripheral blood was collected from 200 patients and 200 healthy women. Mammographic density was determined by mammograms. <em>rs11902591</em>, <em>rs4328642,</em> and <em>rs10183524</em> of the <em>INHBB</em> gene were genotyped using the ARMS-PCR method. Haplotype frequencies and statistical analysis were estimated using PHASE and SPSS 16.0 software, respectively.</p></div><div><h3>Results</h3><p>There was no association between <em>rs1192591</em> and breast density, whereas this polymorphism was associated with breast cancer risk [per allele <em>p</em> = 0.040; OR = 0.56, 95%CI (0.32–0.97)]. Conversely, the C/T genotype of <em>rs4328642</em> was significantly higher in individuals with dense breasts [<em>p</em> = 0.002; OR = 2.31, 95%CI (1.37–3.89)]. Furthermore, <em>rs10183524</em> was statistically associated with breast density [<em>p</em> = 0.009; OR = 0.55, 95%CI (0.35–0.86)] and cancer risk [<em>p</em> = 0.031; OR = 0.52, 95%CI (0.29–0.94)]. Also, certain haplotypes and diplotypes of these markers were associated with BC risk and/or breast density.</p></div><div><h3>Conclusion</h3><p>According to the findings, <em>INHBB</em> gene polymorphisms affect cancer risk and density of the breast, and the interaction between alleles in the form of haplotypes and diplotypes may modulate the amount of the risk conferred by these variants.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142050306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A prospective epidemiological investigation of human leukocyte antigen-B*57:01 in HIV-1-infected Moroccan subjects 摩洛哥 HIV-1 感染者人类白细胞抗原-B*57:01 的前瞻性流行病学调查

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Human Gene Pub Date : 2024-08-13 DOI: 10.1016/j.humgen.2024.201324

{"title":"A prospective epidemiological investigation of human leukocyte antigen-B*57:01 in HIV-1-infected Moroccan subjects","authors":"","doi":"10.1016/j.humgen.2024.201324","DOIUrl":"10.1016/j.humgen.2024.201324","url":null,"abstract":"<div><h3>Background</h3><p>The occurrence of hypersensitivity reactions to abacavir, a significant adverse effect, affects approximately 5–8% of Caucasians. Multiple studies conducted in diverse populations have underscored the association between Human Leukocyte Antigen-B*57:01 and abacavir-hypersensitivity reactions. In late 2021, the Moroccan National AIDS Program issued new anti-retroviral therapy protocols for HIV management, including abacavir as an option for the first-line ART regimen. However, data regarding the HLA-B*57:01 prevalence of HIV in Morocco is scarce. This study aims to assess the prevalence of HLA-B*57:01 in both HIV-1-infected children and adults in Morocco.</p></div><div><h3>Methods</h3><p>From April to December 2022, we screened 292 HIV-1 infected patients, 70 children and 222 adults, for the HLA-B*57:01 allele using sequence-specific oligonucleotide probes reverse hybridization method. The flow cytometry was used to assess the TCD4 lymphocyte count. The virological status was evaluated using quantitative real-time PCR. Sanger sequencing is under process to confirm the results obtained.</p></div><div><h3>Results</h3><p>Of 292 HIV-1-infected patients, 12 (4.1%) had the HLA-B*57:01 allele (95% CI, 2.1–7.1). 5 of 70 (7.2%) and 7 of 222 (3.2%) of children and adults were respectively, HLA-B*57:01 positive. There was no statistical association between clinical characteristics (TCD4 cell count and VL) and HLA-B*57:01 allele carriage.</p></div><div><h3>Conclusion</h3><p>The prevalence of HLA-B*57:01 in Moroccan patients was 4.1%, comparable with that of other Middle Eastern populations, higher than that in South African populations but lower than that in Caucasians and Southwest Asians. Our findings indicate an urgent need for HLA-B*57:01 screening before abacavir to reduce the risk of hypersensitivity reactions.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142020387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pitt Hopkins syndrome – TCF4 gene deletion causing severe psychomotor delay 皮特-霍普金斯综合征--TCF4基因缺失导致严重精神运动发育迟缓

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Human Gene Pub Date : 2024-08-02 DOI: 10.1016/j.humgen.2024.201323

引用次数: 0

Genetic polymorphism of glyoxalase I gene (A419C and C-7 T) and nephropathy risk in patients with type 2 diabetes mellitus among north Indian population: A case-control study 北印度人群中乙醛醛酸酶 I 基因的遗传多态性（A419C 和 C-7 T）与 2 型糖尿病患者的肾病风险：病例对照研究

IF 0.5

Human Gene Pub Date : 2024-07-28 DOI: 10.1016/j.humgen.2024.201322

{"title":"Genetic polymorphism of glyoxalase I gene (A419C and C-7 T) and nephropathy risk in patients with type 2 diabetes mellitus among north Indian population: A case-control study","authors":"","doi":"10.1016/j.humgen.2024.201322","DOIUrl":"10.1016/j.humgen.2024.201322","url":null,"abstract":"<div><h3>Background</h3><p>The global burden of Diabetic nephropathy is rising and eventually leads to chronic kidney disease. Methylglyoxal (MGO) is an antecedent to advanced glycation end products (AGEs), implicated in diabetes mellitus microvascular complications. Glyoxalase I (GLO1), is the primary enzyme responsible for metabolizing methylglyoxal (MG). Any genetic variants of GLO1 may have a significant impact on the development of diabetic microvascular complications.</p></div><div><h3>Objectives</h3><p>To determine the association of rs1049346 and rs4746 (rs2736654) of Glyoxalase I gene polymorphism in type 2 Diabetes patients (T2DM) with nephropathy risk.</p></div><div><h3>Materials and methods</h3><p>The case-control study included a hundred T2DM with nephropathy and a hundred healthy controls. The TaqMan single nucleotide polymorphism genotyping assays were performed using Real-Time PCR to assess the genotype frequencies. The circulating levels of GLO-1 activity, MGO, CML and CEL were estimated using Enzyme-linked immunosorbent assay (ELISA).</p></div><div><h3>Results and discussion</h3><p>We observed increased serum levels of MGO, AGEs and decreased GLO-1 activity in diabetic nephropathy when compared to control. The patients carrying the CC genotypes (CC) and allele frequency of GLO-1 (rs1049346) were associated with nephropathy risk in T2DM patients (<em>p</em> < 0.024). We found no association of rs4746 with nephropathy risk in patients with T2DM. The patients with the CC + CT genotype showed lower GLO-1 activity and increased MGO levels when compared to homozygous wild-type. The CA haplotype significantly increased the risk of T2DM nephropathy.</p></div><div><h3>Conclusion</h3><p>Patients with T2DM who carry the variant CC genotype of rs1049346 (A > C) are at increased risk for developing nephropathy. The patients carrying the CC + CT genotype was associated with lower GLO-1 activity and increased MGO levels.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141845541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Integrative bioinformatics analysis for the identification of hub genes and Virtual screening of phytochemicals to inhibit AURKA in HepatoCellular carcinoma 综合生物信息学分析鉴定枢纽基因并虚拟筛选抑制肝细胞癌 AURKA 的植物化学物质

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Human Gene Pub Date : 2024-07-28 DOI: 10.1016/j.humgen.2024.201321

{"title":"Integrative bioinformatics analysis for the identification of hub genes and Virtual screening of phytochemicals to inhibit AURKA in HepatoCellular carcinoma","authors":"","doi":"10.1016/j.humgen.2024.201321","DOIUrl":"10.1016/j.humgen.2024.201321","url":null,"abstract":"<div><p>HepatoCellular Carcinoma (HCC) is one of the most deadly and prevalent neoplasia, accounting for nearly 830,180 mortalities and 905,677 fresh occurrences worldwide annually. Aggressive malignancy with multifaceted etiologies increases in occurrence due to inadequate early diagnosis and ineffective treatment outcomes. Hence the present study aims to identify novel HCC associated biomarkers and inhibit the plausible genes through phytocompounds. Herein, we have implemented the meta-analysis of GSE36376, GSE57957 and GSE84598 micro-array profiles by utilizing GEO2R which resulted in identification of 1683 aberrantly expressed genes. The predicted DEGs were further subjected to Functional annotation and pathway enrichment analysis by using Blast2GO and ExpressAnalyst respectively. Successively, Protein-Protein Interaction analysis was performed by Cytoscape software, and the top 11 most significant hub nodes were identified. The most frequently occurring hub gene Aurora Kinase A (AURKA) was considered as plausible target for subsequent identification of inhibitors. The plant-derived small molecules retrieved from NPACT database were subjected to molecular docking, Molecular dynamic simulations and MMGBSA analysis against AURKA. Conclusively, findings from our study postulates Garcinone C and Silymarin targeting elevated AURKA levels which may contribute as potential inhibitors for HCC patients. However, these outcomes provide only computational insights for targeted HCC-therapeutics but for clinical application of Garcinone C and Silymarin <em>in vitro</em> and <em>in vivo</em> molecular validations are still warranted.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141842731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Unraveling the impact of deleterious nsSNPs on the MFSD1 protein 揭示有害 nsSNPs 对 MFSD1 蛋白的影响

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Human Gene Pub Date : 2024-07-26 DOI: 10.1016/j.humgen.2024.201320

{"title":"Unraveling the impact of deleterious nsSNPs on the MFSD1 protein","authors":"","doi":"10.1016/j.humgen.2024.201320","DOIUrl":"10.1016/j.humgen.2024.201320","url":null,"abstract":"<div><p>MFSD1 (Major facilitator superfamily domain containing 1) protein is a lysosomal multiple transmembrane-spanning protein responsible for the active transport of various compounds. Due to its potential role in maintaining liver homeostasis, any mutation might lead to altered protein expression, thus affecting the functionality. In this study, we explored the impact of deleterious nsSNPs (Nonsynonymous single nucleotide polymorphisms) on the stability, conformation, and functionality of the MFSD1 protein. SNP data and MFSD1 protein sequences were retrieved from NCBI dbSNP and Uniprot respectively. In total, five highly conserved nsSNPs were predicted to be deleterious based on their negative impact on the stability of the protein. Furthermore, the simulation analysis on the 3D structures of both native and mutant proteins revealed a notable impact on the physiological conformation of the protein. The identified variants not only affect the native conformation but also impact the association of MFSD1 with GLMP (Glycosylated Lysosomal Membrane Protein). In conclusion, the analysis revealed that the mutant protein's structural stability was inferior to that of the native protein. This research provides crucial insights for identifying and assessing MFSD1 mutations as potential diagnostic markers for liver-related diseases.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141847772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evaluation of the expression of miRNA-214 and circ-0005407 markers and their associated ZFAND3 gene in Oral squamous cell carcinoma 口腔鳞状细胞癌中 miRNA-214 和 circ-0005407 标记及其相关 ZFAND3 基因的表达评估

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Human Gene Pub Date : 2024-07-20 DOI: 10.1016/j.humgen.2024.201319

{"title":"Evaluation of the expression of miRNA-214 and circ-0005407 markers and their associated ZFAND3 gene in Oral squamous cell carcinoma","authors":"","doi":"10.1016/j.humgen.2024.201319","DOIUrl":"10.1016/j.humgen.2024.201319","url":null,"abstract":"<div><h3>Background and objective</h3><p>Cancer biomarkers serve as measurable indicators for the early detection of cancer, as they can be detected in sample tissues. They play a crucial role in optimizing decision-making in clinical practice. To advanve in this field, it is necessary to identify of markers with higher sensitivity, specificity, and positive predictive value. Therfore, wer have chosen to investigate the expression of multiple biomarkers simultaneously in oral squamous cell carcinoma.</p></div><div><h3>Materials and methods</h3><p>In this experimental study, we investigated the expression levels of miRNA-214, circ-0005407, and ZFAND3 genes using the quantitative RealTime PCR method. The samples examined included 30 samples of fresh cancerous tissue and adjacent normal tissue obtained from the Cancer Institute of <em>Imam</em> Khomeini Hospital. The data were analyzed using the dependent samples <em>t</em>-test and ANOVA test.</p></div><div><h3>Findings</h3><p>The mean CT values of circ-0005407, miRNA-214, and ZFAND3 in the cancerous and normal groups were (15.48 ± 1.62 & 13.23 ± 1.63), (16.64 ± 1.51 & 13.21 ± 1.29), and (14.41 ± 1.07 & 16.72 ± 1.28), respectively. There was a statistically significant difference in the expression levels of all markers in the two investigated groups (P˂0.05). The fold change levels in circ-0005407, miRNA-214, and ZFAND3 gene markers were (0.51,0.22,6.34) respectively, indicating an increase in gene expression in cancerous tissue compared to normal. However, the other two markers showed decreased expression in cancerous tissue compared to normal tissue.</p></div><div><h3>Conclusion</h3><p>Based on the data obtained regarding the change in expression levels of these markers in cancerous tissue compared to normal tissue, it seems that these biomarkers can be used in the early diagnosis of oral cancer.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141949713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mutational analysis and prediction of the potential impact of missense mutations in the HOXA9 gene in B-cell acute lymphoblastic leukemia B细胞急性淋巴细胞白血病中HOXA9基因错义突变的突变分析和潜在影响预测

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Human Gene Pub Date : 2024-07-17 DOI: 10.1016/j.humgen.2024.201318

{"title":"Mutational analysis and prediction of the potential impact of missense mutations in the HOXA9 gene in B-cell acute lymphoblastic leukemia","authors":"","doi":"10.1016/j.humgen.2024.201318","DOIUrl":"10.1016/j.humgen.2024.201318","url":null,"abstract":"<div><p><em>Background</em>: The <em>HOXA9</em> gene is an essential gene during the developmental stages of the embryo, and its mutations can result in different phenotypes in both fetal and adult life. Additionally, this gene encodes a transcription factor that plays a crucial role in hematopoietic processes. Deregulation of these pathways has been reported in some leukemia cases. This <em>in-silico</em> analysis aims to evaluate the pathogenic effect of missense mutations in the <em>HOXA9</em> gene by utilizing various bioinformatics tools.</p><p><em>Methods</em>: From dbSNP NCBI, 288 non-synonymous/missense mutations of the <em>HOXA9</em> gene have been obtained. These missense mutations' functional impact was analyzed using various bioinformatics tools, including SIFT, Polyphen-2, PROVEAN, I-Mutant, PHD-SNP, and SNP&GO. Additionally, their structural impacts were investigated using Netsurf P-2.0, HOPE, ConSurf, and PyMOL. Furthermore, the analysis of protein hydrophobicity changes was examined using PEPTIDE 2.0 and ExPASy web tools.</p><p><em>Results</em>: Out of the 288 non-synonymous mutations, 45 mutations have been identified as functional genetic variants that affect the structure and stability of the HOXA9 protein. According to the analysis, 10 out of the 45 missense mutations were more likely to be involved in changing the characteristics of the protein. These changes include absolute and relative solvent accessibility (ASA, RSA), classification secondary structure, surface accessibility, noncovalent interactions, and protein conformation.</p><p><em>Conclusion</em>: Based on the results of this <em>in-silico</em> study, high-risk deleterious missense mutations have been predicted in the <em>HOXA9</em> gene. These mutations may be potential candidates for future experimental investigations in various hematologic malignancy conditions.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141732114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Germline mutations of the putative tumor suppressor gene PTEN/MMAC1 as molecular biomarker in prostate cancer 作为前列腺癌分子生物标志物的推定肿瘤抑制基因 PTEN/MMAC1 的种系突变

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Human Gene Pub Date : 2024-07-15 DOI: 10.1016/j.humgen.2024.201316

{"title":"Germline mutations of the putative tumor suppressor gene PTEN/MMAC1 as molecular biomarker in prostate cancer","authors":"","doi":"10.1016/j.humgen.2024.201316","DOIUrl":"10.1016/j.humgen.2024.201316","url":null,"abstract":"<div><p>The phosphatase and tensin homolog gene (PTEN) is a key tumor suppressor gene, which signals down the phosphoinositol-3-kinase/Akt pathway and affects cell cycle arrest and apoptosis. Alteration and mutation of the PTEN gene have been found in several types of tumors, including prostate cancer. Germline mutations of this gene are associated with the PTEN Hereditary Tumor Syndromes (PHTS), a hereditary overgrowth and cancer predisposition disorder. The present study aimed to determine whether germline alterations in exon 5 of the PTEN gene could be detected in the blood of men known to have prostate cancer, in order to uncover any aberrations that affect this key gene, which is likely involved in the cancer process.</p><p>Forty-eight blood samples from men diagnosed with prostate cancer were analyzed for germline mutations in the PTEN and confirmed by Sanger sequencing. The Sanger sequencing results revealed that 69% of the population carries mutations, including several new mutations and known mutations. The Frameshift mutations: c.459delT variant was detected with a frequency of 12.5%, and four frameshift variants were observed with frequencies of 8% each: c.304delA, c.338delG, c.439_440insG, c.457delG. For the missense mutations, the most frequent variant was c.473 T > C (p.Val158Ala), recorded in four patients (8%), while the variants c.361G > C (p.Ala121Pro) was detected in 6% of the population. There was no significant difference between mutation carriers and non-carriers regarding clinicopathological features. Our results provide insight into novel mutations identified in the PTEN gene in prostate cancer. This presents a new opportunity to focus on and highlight key genes for clinical exploration as potential biomarkers in the diagnosis and management of prostate cancer.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141636657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

VDR polymorphism and its correlation with chronic periodontitis – An updated meta – Analysis VDR 多态性及其与慢性牙周炎的相关性--最新荟萃分析

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Human Gene Pub Date : 2024-07-14 DOI: 10.1016/j.humgen.2024.201317

{"title":"VDR polymorphism and its correlation with chronic periodontitis – An updated meta – Analysis","authors":"","doi":"10.1016/j.humgen.2024.201317","DOIUrl":"10.1016/j.humgen.2024.201317","url":null,"abstract":"<div><p>The scientific evidences suggest that the common polymorphism in vitamin D receptors (VDR) such as <em>Apa</em>I (rs7975232), <em>Bsm</em>I (rs1544410), TaqI (rs731236), and <em>Fok</em>I (rs2228570) may influence the risk of chronic periodontitis (CP) however the existing studies have inconclusive results. The present current aim to perform a meta – analysis of the published studies to determine the association of VDR polymorphism with CP susceptibility. An extensive literature search was conducted on various database to find the relevant studies and the crude odds ratio (OR) with 95% confidence interval was calculated. Twenty-two case control studies were included in the study with 2083 cases and 2013 control for TaqI, 989 cases and 722 control for <em>Fok</em>I, 1240 cases and 1026 control for <em>Bsm</em>I and 972 cases and 961 control for <em>Apa</em>I polymorphism. The overall analysis reported an increased association of CP with the <em>Fok</em>I only under dominant model [1.42 (1.12–1.79); 0.002]. The other polymorphism - <em>Apa</em>I, <em>Bsm</em>I, and TaqI did not report any significant association in the overall analysis however <em>Bsm</em>I and TaqI was associated with CP risk in subgroup analysis. The TaqI polymorphism showed an increased risk of developing CP in African population under allelic [2.00(1.09–3.65)0.024], recessive [10.21 (1.25–82.8)0.029], homozygous [13.75 (1.54–122.0)0.018] and heterozygous [8.80 (1.06–73.0) 0.04] model however the association cannot be concluded as there were fewer studies. The presence of mutant allele of <em>Bsm</em>I polymorphism demonstrated a reduced risk of developing CP among Asian under recessive [0.54 (0.29–0.99)0.047] and homozygous [0.49 (0.25–0.94) 0.034] model. The meta – analysis indicate the association of major VDR polymorphism with the development of CP is population specific.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141622921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0