Abstract:
:Genetic factors play important roles in the development of tuberculosis (TB). SP110 is a promising candidate target for controlling TB infections. However, several studies associating SP110 single nucleotide polymorphisms (SNPs) with TB have yielded conflicting results. This may be partly resolved by studying other genes associated with SP110, such as MYBBP1A and RELA. Here, we genotyped 6 SP110 SNPs, 8 MYBBP1A SNPs and 5 RELA SNPs in 702 Chinese pulmonary TB patients and 425 healthy subjects using MassARRAY and SNaPshot methods. Using SNP-based analysis with Bonferroni correction, rs3809849 in MYBBP1A [Pcorrected (cor) = 0.0038] and rs9061 in SP110 (Pcor = 0.019) were found to be significantly associated with TB. Furthermore, meta-analysis of rs9061 in East Asian populations showed that the rs9061 T allele conferred significant risk for TB [P = 0.002, pooled odds ratio (OR), 1.24, 95% confidence interval (CI) = 1.08-1.43]. The MYBBP1A GTCTTGGG haplotype and haplotypes CGACCG/TGATTG within SP110 were found to be markedly and significantly associated with TB (P = 2.00E-06, 5.00E-6 and 2.59E-4, respectively). Gene-based analysis also demonstrated that SP110 and MYBBP1A were each associated with TB (Pcor = 0.011 and 0.035, respectively). The logistic regression analysis results supported interactions between SP110 and MYBBP1A, indicating that subjects carrying a GC/CC genotype in MYBBP1A and CC genotype in SP110 possessed the high risk of developing TB (P = 1.74E-12). Our study suggests that a combination of SP110 and MYBBP1A gene polymorphisms may serve as a novel marker for identifying the risk of developing TB in the Chinese Han population.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Cai L,Deng SL,Liang L,Pan H,Zhou J,Wang MY,Yue J,Wan CL,He G,He Ldoi
10.1007/s00439-012-1244-5subject
Has Abstractpub_date
2013-03-01 00:00:00pages
265-73issue
3eissn
0340-6717issn
1432-1203journal_volume
132pub_type
杂志文章,meta分析相关文献
HUMAN GENETICS文献大全abstract::We have determined the subchromosomal location of the human insulin gene by analyzing DNA isolated from sorted human metaphase chromosomes. Metaphase chromosome suspensions were sorted into fractions according to relative Hoechst fluorescence intensity by the fluorescence activated chromosome sorter. The chromosomal D...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281255
更新日期:1982-01-01 00:00:00
abstract::This paper surveys the current state of knowledge about the relationship between different national publics and biobanks, how different publics perceive biobanks, and which issues are identified as important by various stakeholders. We discuss existing studies and emerging governance strategies dealing with the bioban...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1065-y
更新日期:2011-09-01 00:00:00
abstract::The epidemiological, teratological and genetic data on 134 index patients with omphalocele (79 isolated and 55 multiple ones) and on 134 matched controls born in Hungary 1970-1976 were studied medical records and by retrospective interview. The stillbirth rate and infant mortality are significantly higher, and there i...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282821
更新日期:1981-01-01 00:00:00
abstract::C'3 phenotype and gene frequencies observed in two Italian samples are reported. The allele frequencies resemble those reported for other Caucasian populations. Five different rare variants are described. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00321026
更新日期:1979-04-05 00:00:00
abstract::A patient with Beckwith-Wiedemann syndrome (BWS) presented with Wilms' tumour. Examination of the nephrectomy specimen showed, in addition to the tumour, the presence of nephrogenic rests. Nephrogenic rests are thought to be precursor lesions from which a Wilms' tumour may develop. A molecular analysis examining the l...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00209482
更新日期:1995-06-01 00:00:00
abstract::Alzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. The familial form (FAD) has been linked to markers on chromosome 21 in some families, most tightly to the loci D21S16 and D21S13 located close to the centromere of the long arm. In other families the FAD mutation has been exc...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00204173
更新日期:1991-06-01 00:00:00
abstract::Experiments were performed in order to gain information about the primary process leading to the production of sister chromatid exchanges (SCEs). Radical-forming substances (hydroxylamine, hydrazine and the antituberculous drug isoniazid) were examined for their effectiveness in inducing SCEs. All three substances pro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278964
更新日期:1980-01-01 00:00:00
abstract::An new type of translocation, t(10;13)(q25;q11), is observed in a phenotypically normal male who was examined for subfertility. The meiotic behavior of the rearranged chromosomes indicates that crossing-over is very frequent in a rather small segment such as the short arm of chromosome 13 and constant in the distal ba...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273162
更新日期:1977-11-02 00:00:00
abstract::Three fragile sites 2q13, 12q13, and 17p12 were found in one family. In the index case, who was first investigated in 1969 for low birth weight and bilateral inguinal hernia, three tissues were examined, blood, marrow, and skin. Three of the family have been reinvestigated after 17 years. Cultures for sister chromatid...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291608
更新日期:1986-06-01 00:00:00
abstract::Genome-wide association studies (GWAS) have had a tremendous success in the identification of common DNA sequence variants associated with complex human diseases and traits. However, because of their design, GWAS are largely inappropriate to characterize the role of rare and low-frequency DNA variants on human phenoty...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1702-6
更新日期:2016-11-01 00:00:00
abstract::We present a linkage study in a four-generation autosomal dominant cerebellar ataxia (ADCA) family of Dutch ancestry. The family shows a clinically and genetically distinct form of ADCA. This neurodegenerative disorder manifests in the family as a relatively mild ataxia syndrome with some additional characteristic sym...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0782-7
更新日期:2002-10-01 00:00:00
abstract::ISLR2 (immunoglobulin superfamily containing leucine-rich repeat 2), encodes a protein involved in axon guidance in brain development (hence the other name leucine-rich repeat domain- and immunoglobulin domain-containing axon extension proteins; LINX). A recently described mouse knockout displays hydrocephalus. Howeve...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1963-3
更新日期:2019-01-01 00:00:00
abstract::Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system with putative autoimmune aetiology and complex genetic background. Here, we report the results of a genome screen for linkage disequilibrium (LD) by using 6000 microsatellite markers in 198 HLA-DRB1*15-positive MS patients and 198 unrela...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0801-8
更新日期:2002-09-01 00:00:00
abstract::The gene responsible for X-linked cleft palate and ankyloglossia (CPX) has previously been localized to the proximal region of the q arm of the X chromosome in both Icelandic and North American Indian kindreds. In this study, further linkage analysis has been performed on the Icelandic family and has resulted in a sig...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00225205
更新日期:1995-03-01 00:00:00
abstract::Deletions in 17q11.2 affecting the NF1 gene and surrounding regions occur in 5% of patients with NF1. The two major types of NF1 deletions encompass 1.4-Mb and 1.2-Mb, respectively, and have breakpoints in the NF1 low-copy repeats or in the JJAZ gene and its pseudogene. Deletions larger than 1.4-Mb are rare, and only ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1265-4
更新日期:2005-05-01 00:00:00
abstract::Case-control genetic association studies in admixed populations are known to be susceptible to genetic confounding due to population stratification. The transmission/disequilibrium test (TDT) approach can avoid this problem. However, the TDT is expensive and impractical for late-onset diseases. Case-control study desi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-0080-2
更新日期:2006-01-01 00:00:00
abstract::Several studies have reported that a variant allele (S2) of the apolipoprotein (apo) A-I/C-III/A-IV complex is associated with hyperlipoproteinemia in some populations and that the frequency of this allele is two- to fivefold higher in patients with premature coronary heart disease (CHD) than in healthy controls. In t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00225084
更新日期:1995-01-01 00:00:00
abstract::Recent studies indicate that, whereas the Sardinian population as a whole is comparable to outbred populations for linkage disequilibrium (LD) mapping of common variants, LD in Sardinian sub-isolates is more extended, making these populations particularly suitable for this approach. To evaluate the extent of LD betwee...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0753-z
更新日期:2002-07-01 00:00:00
abstract::Members of three generations of a single family were examined and found to have a balanced translocation t(11;16)(q13;p11). Cytogenetic investigation and investigation of a number of gene markers is consistent with the current view that the Hp-alpha locus is situated in the proximity of band 16q22. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291626
更新日期:1978-05-16 00:00:00
abstract::The Gm types of 515 inhabitants of Belém and 395 inhabitants of Porto Alegre, Brazil were studied in an attempt to quantitatively estimate ethnic parental contributions. The people from Belém can be characterized as 24% black, 22% Indian, and 54% Caucasian. The Porto Alegre blacks seem to have inherited as much as 53%...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00289458
更新日期:1979-01-01 00:00:00
abstract::5'-Bromodeoxyuridine (BrdU) present in the course of late S and G2 phases of the cell cycle in PHA-stimulated human lymphocyte cultures causes the despiralization and elongation of some chromosome regions, including short arms of acrocentric chromosomes. BrdU present at a concentration of 250 microM during the last 10...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286640
更新日期:1983-01-01 00:00:00
abstract::Proximal spinal muscular atrophy (SMA) is a neuromuscular disorder caused by homozygous mutations of the SMN1 gene. SMN1 interacts with multiple proteins with functions in snRNP biogenesis, pre-mRNA splicing and presumably neural transport. SMN2, a nearly identical copy of SMN1, produces predominantly exon 7-skipped t...
journal_title:Human genetics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00439-003-1025-2
更新日期:2003-12-01 00:00:00
abstract::Five live-born infants with Patau syndrome were studied for the nondisjunctional origin of the extra chromosome. Transmission modes of chromosomes 13 from parents to a child were determined using both QFQ- and RFA-heteromorphisms as markers, and the origin was ascertained in all of the patients. The extra chromosome h...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00418400
更新日期:1984-01-01 00:00:00
abstract::Stargardt disease (STGD) is one of the most frequent causes of macular degeneration in childhood. Linkage analysis in families with recessive STGD has recently shown genetic homogeneity and a location of the underlying gene at 1p22-p21 in a 4-cM interval. Haplotype analysis in seven Dutch STGD families with 11 highly ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050247
更新日期:1996-10-01 00:00:00
abstract::A slight increase in mean corpuscular hemoglobin (MCH) has been reported in erythrocytes from human fragile X patients. As it is difficult to perform case-controlled studies in patients with fragile X syndrome, we studied MCH in erythrocytes from transgenic mice with an Fmr1 knockout. None of the knockout mice showed ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00218832
更新日期:1996-01-01 00:00:00
abstract::We have developed a new enzyme-linked immunosorbent assay for determination of H-Y phenotype in the human. This assay, which measures the inhibition of the reaction of a monoclonal anti-H-Y antibody and a mouse testis extract as a source of H-Y antigen, was applied to the supernatant of lymphocytes from ten normal mal...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286517
更新日期:1984-01-01 00:00:00
abstract::High-risk mucosal human papillomaviruses encode an E6 oncoprotein, which binds the cellular p53 tumor suppressor protein, thereby marking it for degradation through the ubiquitin-mediated pathway. A common p53 polymorphism at codon-72 of exon 4 results in translation to either arginine or proline. Recently reported da...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004399900138
更新日期:1999-12-01 00:00:00
abstract::Buerger disease (BD) is an occulusive vascular disease of unknown etiology. Although cigarette smoking is a well-known risk factor of BD, genetic factors may also play a role in the etiology. Because chronic bacterial infection such as oral periodontitis is suggested to be involved in the pathogenesis of BD, gene poly...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0408-1
更新日期:2007-11-01 00:00:00
abstract::Retroelements (REs) occupy up to 40% of the human genome. Newly integrated REs can change the pattern of expression of pre-existing host genes and therefore might play a significant role in evolution. In particular, human- and primate-specific REs could affect the divergence of the Hominoidea superfamily. A comparativ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0904-2
更新日期:2003-05-01 00:00:00
abstract::Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY females with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen and were found to ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00271160
更新日期:1981-01-01 00:00:00