Abstract:
BACKGROUND:Inflammation is a response of body tissues to injury or irritation. Small RNAs, such as miR-146a and miR-499, participate in various processes of tumorigenesis. A recent study indicates that inflammation and abnormal immune responses may promote malignant progression in cancer development, indicating that inflammation-related polymorphisms such as miR-146a rs2910164 and miR-499 rs3746444 are crucial. However, studies on the association of these two polymorphisms with hepatocellular carcinoma (HCC) are inconclusive and inconsistent. We aimed at accessing the combined result of reported studies and make a more precise estimate of the relationship. METHODS:Meta-analysis was performed on the associations between the miR-146a rs2910164 C > G and miR-499 rs3746444 T > C polymorphisms and hepatocellular carcinoma, using: allele contrast, dominant, and recessive models. A total of 12 studies(8 on miR-146a rs2910164 and 4 on miR-499 rs3746444) with three populations (Chinese, Korean, Turkish) were included in this study. RESULTS:Results show that both allele frequency and genotype distributions of miR-146a rs2910164 polymorphism are significantly associated with susceptibility to HCC (G versus C: OR = 1.153, 95% CI 1.083-1.228, P < 0.001; GC versus CC: OR = 1.165, 95% CI 1.054-1.286, P = 0.003; GG versus CC: OR = 1.361, 95% CI 1.192-1.553, P < 0.001; GG/GC versus CC: OR = 1.213, 95% CI 1.104-1.333, P < 0.001; GG versus GC/CC: OR = 1.210, 95% CI 1.080-1.356, P < 0.001). Our data suggest that people with G allele have a higher susceptibility to HCC as compared to those with C allele. However, meta-analysis failed to detect associations between miR-499 rs3746444 and HCC risk under each genetic model tested. Subgroup analysis showed that Chinese population with CC genotype are more vulnerable to HCC (OR = 2.171, 95% CI = 1.149-4.104, P = 0.017) than those with TT genotype. CONCLUSIONS:We conclude that rs2910164 in miR-146a may confer susceptibility to HCC, especially in the Chinese population. No significant association was found between miR-499 rs3746444 and HCC, but subgroup study showed that subjects with CC genotype are more vulnerable to HCC than TT genotype in the Chinese population.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Liu J,Xie B,Chen S,Jiang F,Meng Wdoi
10.1186/s12881-014-0092-7subject
Has Abstractpub_date
2014-08-10 00:00:00pages
92issn
1471-2350pii
s12881-014-0092-7journal_volume
15pub_type
杂志文章,meta分析abstract:BACKGROUND:Genetic variations in the calpain-10 gene (CAPN10), in particular the at-risk diplotype (112/121), were previously implicated with increased risk of type 2 diabetes (T2D). METHODS:We examined the association of CAPN10 UCSNP-43 (rs3792267), UCSNP-19 (rs3842570), and UCSNP-63 (rs5030952) SNPs with T2D in 917 ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-75
更新日期:2010-05-15 00:00:00
abstract:BACKGROUND:Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia. Hearing impairment and EVA may occur in the absence of goitre or thyroid dyshormonogensis in a conditi...
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pub_type: 杂志文章
doi:10.1186/1471-2350-14-85
更新日期:2013-08-21 00:00:00
abstract:BACKGROUND:Long QT syndrome (LQTS) is an autosomal dominant condition predisposing to sudden death from malignant arrhythmia. Genetic testing identifies many missense single nucleotide variants of uncertain pathogenicity. Establishing genetic pathogenicity is an essential prerequisite to family cascade screening. Many ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0176-z
更新日期:2015-05-13 00:00:00
abstract:BACKGROUND:Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to the variability in HD age at onset. To identify modifier genes, we recently reported a whole-genome ...
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pub_type: 杂志文章
doi:10.1186/1471-2350-7-71
更新日期:2006-08-17 00:00:00
abstract:BACKGROUND:Congenital cataract is the leading cause of blindness in children worldwide. Approximately half of all congenital cataracts have a genetic basis. Protein aggregation is the single most important factor in cataract formation. METHODS:A four-generation Chinese family diagnosed with autosomal dominant congenit...
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更新日期:2018-10-19 00:00:00
abstract:BACKGROUND:Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical spectrum associated with loss-of-function variation has yet to be fully defined....
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更新日期:2020-11-10 00:00:00
abstract:BACKGROUND:PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid glycans. The mutations of PMM2-CDG might lead to the loss of PMM2, which is responsible for the conv...
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abstract:BACKGROUND:Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments. CASE PRESENTATION:A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, ...
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pub_type: 杂志文章,评审
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abstract:BACKGROUND:PE (preeclampsia) is a heterogeneous disorder with early onset PE (EOPE) and late onset PE (LOPE) subtypes. Associations between maternal miRNAs biosynthesis genes polymorphisms and risk of PE have been previously observed. However, the impact of polymorphisms in DGCR8 which is indispensable in miRNA maturin...
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更新日期:2009-05-09 00:00:00
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pub_type: 杂志文章,meta分析
doi:10.1186/s12881-019-0932-6
更新日期:2019-12-10 00:00:00
abstract:BACKGROUND:Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutations in the ANTXR2 gene have b...
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doi:10.1186/s12881-018-0581-1
更新日期:2018-05-25 00:00:00
abstract:BACKGROUND:Thalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells. Thalassemia cases rank fifth in the list of national catastrophic diseases in Indonesia; however, nationwide screening for thalassemia carriers is not yet mandatory. This study aimed to assess whether ...
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更新日期:2019-08-09 00:00:00
abstract:BACKGROUND:Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normall...
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更新日期:2017-03-23 00:00:00
abstract:BACKGROUND:DJ-1 forms part of the neuronal cellular defence mechanism against oxidative insults, due to its ability to undergo self-oxidation. Oxidative stress has been implicated in the pathogenesis of central nervous system damage in different neurodegenerative disorders including Alzheimer's disease and Parkinson's ...
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pub_type: 杂志文章
doi:10.1186/1471-2350-10-105
更新日期:2009-10-13 00:00:00
abstract:BACKGROUND:E-selectin is implicated in various inflammatory processes and related disorders. We aimed to investigate the role of SELE-gene genotypes/haplotypes on plasma levels of MMP9 and sE-selectin in Taiwanese individuals. METHODS:Five hundred twenty individuals were enrolled. Seven tagging SELE single nucleotide ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-115
更新日期:2012-11-29 00:00:00
abstract:BACKGROUND:Dengue hemorrhagic fever (DHF) is a severe life-threatening form of dengue infection. Low platelet count is one of the characteristic clinical manifestations in patients with severe dengue. However, little is known about genetic factors in the host that cause low platelet count in patients with dengue. METH...
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pub_type: 杂志文章
doi:10.1186/s12881-016-0305-3
更新日期:2016-07-11 00:00:00
abstract:BACKGROUND:The complement component (3b/4b) receptor 1 gene (CR1) gene has been proved to affect the susceptibility of Alzheimer's disease (AD) in different ethnic and districts groups. However, the effect of CR1 genetic variants on amyloid β (Aβ) metabolism of AD human is still unclear. Hence, the aim of this study wa...
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更新日期:2020-09-12 00:00:00
abstract:BACKGROUND:Congenital nystagmus (CN) and congenital cataracts are distinct eye diseases and are usually isolated. Cases with CN and congenital cataracts caused by different genes in one family have been rarely reported. CASE PRESENTATION:A 27-year-old man presented with CN and congenital cataracts and he underwent cat...
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pub_type: 杂志文章,评审
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abstract:BACKGROUND:Crohn's disease (CD) has the highest prevalence among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Caucasian populations (NJ). We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population. METHODS:We recr...
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更新日期:2009-07-17 00:00:00
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更新日期:2008-05-06 00:00:00
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abstract:BACKGROUND:Kidneys have an important function in blood pressure (BP) regulation and elevated BP may lead to kidney failure. Chr2p12-p13 region linked to BP traits in multiple studies harbours a potential candidate for BP and renal function, N-acetyltransferase 8 (NAT8) expressed in embryonic and adult kidney and associ...
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更新日期:2008-04-10 00:00:00
abstract:BACKGROUND:The increasing number of available genotypes for genetic studies in humans requires more advanced techniques of analysis. We previously reported significant univariate associations between gene polymorphisms and antidepressant response in mood disorders. However the combined analysis of multiple gene polymor...
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更新日期:2004-12-09 00:00:00
abstract:BACKGROUND:We have recently developed a highly accurate urine-based test, named Urodiag®, associating FGFR3 mutation and DNA methylation assays for recurrence surveillance in patients with low-, intermediate-, and high-risk NMIBC. Previously, the detection of four FGFR3 mutations (G372C, R248C, S249C and Y375C) require...
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abstract:BACKGROUND:Genetic susceptibility plays a key role in the development of nasopharyngeal carcinoma (NPC) and in fact the disease presents with an unusually high incidence in certain regions of the world like North Africa. We investigated the association between polymorphism of the Transforming growth factor-β1 (TGF-β1) ...
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