Abstract:
:Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) near the human leukocyte antigen (HLA)-DP loci that were significantly correlated with outcomes of hepatitis B virus (HBV) infection. We performed a case-control study nested in a well-characterized cohort of booster recipients to assess whether genetic variants of HLA-DPB1 are also associated with response to hepatitis B (HB) vaccination. The cases and controls were 171 and 510 booster recipients whose post-booster titers of antibodies against HBV surface antigen (anti-HBs) were undetectable and detectable, respectively. The HLA-DPB1 genotype was determined using sequence-based techniques. The frequencies of HLA-DPB1 alleles were significantly different between cases and controls (p = 1.7 × 10(-8)). The HLA-DPB1 05:01 and 09:01 alleles were significantly more frequent in the cases, and 02:01:02, 02:02, 03:01:01, 04:01:01, and 14:01, were significantly more frequent in the controls. The adjusted odds ratio (OR) of undetectable post-booster anti-HBs titers was significantly correlated with the number of risk alleles (p for trend = 3.8 × 10(-5)). For the number of protective alleles, the trend was significantly inversed (p for trend = 1.3 × 10(-5)). As compared with subjects with two risk alleles, adjusted OR were 0.34 (95 % confidence interval [CI] 0.21-0.55) and 0.20 (95 % CI 0.08-0.48) for subjects with 1 and 2 protective alleles, respectively. The HLA-DPB1 02:02, 04:01:01, 05:01 and 09:01 alleles were also significantly correlated with the likelihoods of undetectable pre-booster anti-HBs titers. Our results indicated that HLA-DPB1 is significantly correlated with response to booster HB vaccination in adolescent who had received postnatal active HB vaccination. HLA-DBP1 may also determine the long-term persistence of response to HB vaccination.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Wu TW,Chu CC,Ho TY,Chang Liao HW,Lin SK,Lin M,Lin HH,Wang LYdoi
10.1007/s00439-013-1320-5subject
Has Abstractpub_date
2013-10-01 00:00:00pages
1131-9issue
10eissn
0340-6717issn
1432-1203journal_volume
132pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::We have observed a T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause of a beta-thalassemia, but continued analyses have provided convinci...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00218918
更新日期:1994-01-01 00:00:00
abstract::Admixture mapping is a potentially powerful tool for mapping complex genetic diseases. For application of this method, admixed individuals must have genomes composed of large segments derived intact from each founding population. Such segments are thought to be present in African Americans (AA) and should be demonstra...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-0961-1
更新日期:2003-08-01 00:00:00
abstract::A total of 1242 individuals from six Chinese ethnic groups were studied with respect to the glyoxalase I polymorphism using agarose gel electrophoresis. The GLO1*1 gene frequency and the number of subjects tested in each population are as follows: Uygur 0.2466 (219), Hui 0.1621 (219), Dong 0.1866 (201), Bai 0.1921 (20...
journal_title:Human genetics
pub_type: 杂志文章
doi:
更新日期:1986-11-01 00:00:00
abstract::The simultaneous analysis of closely linked nucleotide substitutions has recently become possible. However, it is not known whether the construction of molecular haplotypes will be a generally useful strategy for nuclear genes. Furthermore, whereas mobility-shift methods are widely used for the discovery of nucleotide...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050932
更新日期:1999-02-01 00:00:00
abstract::Schwannomas may develop sporadically or in association with NF2 and schwannomatosis. The fundamental aberration in schwannomas is the bi-allelic inactivation of the NF2 gene. However, clinical and molecular data suggest that these tumors share a common pathogenetic mechanism related to as yet undefined 22q-loci. Linka...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-0002-3
更新日期:2005-10-01 00:00:00
abstract::We have investigated the origin of rapidly adhering (RA) cells in three cases of neural tube defects (two anencephali, one encephalocele). We were able to demonstrate the presence of glial fibrillary acidic (GFA) protein in variable percentages (4--80%) of RA cells cultured for 4--6 days by use of indirect immunofluor...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00274694
更新日期:1981-01-01 00:00:00
abstract::Since nine patients with infantile liver cirrhosis or hepatopathy associated with the Pi ZZ phenotype had been observed in recent years in the Children's Hospital of the University of Innsbruck, Tyrol, the distribution of the Pi types and the PiM subtypes was determined in the Tyrolean population. Apparently healthy b...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291545
更新日期:1983-01-01 00:00:00
abstract::Congenital atrichia is a rare autosomal recessive disorder of hair development, characterized by complete loss of hair shortly after birth. Evidence of linkage to chromosome 8p12 has been established, implicating the human homolog of the mouse hairless (hr) gene as a candidate gene. We have previously identified misse...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050840
更新日期:1998-10-01 00:00:00
abstract::To understand better the pathogenesis of ovarian dysgenesis in individuals with abnormalities such as 45,X Turner syndrome, trisomy 13, and trisomy 18, we have examined microscopically the ovaries of 36 infants with a number of chromosomal abnormalities confirmed by karyotype analysis. All infants with trisomy 13, tri...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201540
更新日期:1991-04-01 00:00:00
abstract::This paper presents some characteristics of the population genetics of primary congenital glaucoma in Slovakia. The overall incidence in Slovakia is 1:10,500, while being 1:1,250 in the Gypsy subpopulation of Slovakia and 1:22,000 in the non-Gypsy population. For a special type of congenital primary glaucoma, transmit...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00296440
更新日期:1982-01-01 00:00:00
abstract::A case of ring chromosome 15 passed on to the index patient's two children is reported, and possible reasons for the infrequent records of inheritance of ring chromosome are suggested. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283630
更新日期:1987-07-01 00:00:00
abstract::The majority of constitutional reciprocal translocations appear to be unique rearrangements arising from independent events. However, a small number of translocations are recurrent, most significantly the t(11;22)(q23;q11). Among large series of translocations there may be multiple independently ascertained cases with...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-008-0611-8
更新日期:2009-03-01 00:00:00
abstract::Uterine fibroids (UFs) affect 77 % of women by menopause and account for $9.4 billion in yearly healthcare costs. We recently replicated findings from the first UF genome-wide association study (GWAS), conducted in the Japanese. Here we tested these GWAS-discovered SNPs for association with UF characteristics to furth...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1340-1
更新日期:2013-12-01 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
abstract::From a series of 53 patients with ataxia telangiectasia, two large clones with a t tan or tct(14;14) and two with an inv(14) were observed among phytohaemagglutinin (PHA)-stimulated lymphocytes. Smaller clones with the same inv(14) were observed in two other cases. Similar breakpoints may exist, both for t(14;14) and ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278811
更新日期:1986-01-01 00:00:00
abstract::The human ATSV (axonal transporter of synaptic vesicles) gene encodes an anterograde axonal motor transport protein and demonstrates homology to the kinesin gene family in several species. The human ATSV gene was mapped to chromosome 2q37 by screening of a human/rodent somatic cell hybrid panel by the polymerase chain...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050944
更新日期:1999-03-01 00:00:00
abstract::While it is widely appreciated that prostate cancers vary substantially in their propensity to progress to a life-threatening stage, the molecular events responsible for this progression have not been identified. Understanding these molecular mechanisms could provide important prognostic information relevant to more e...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0219-9
更新日期:2006-11-01 00:00:00
abstract::To elucidate further the genetic mechanisms for follicular thyroid tumor development and progression, we allelotyped follicular thyroid tumors and other thyroid lesions from 92 patients. In general, a low frequency of loss of heterozygosity (LOH) was found, the highest being for chromosomes 3q, 10q, 11p, 11q, 13q, and...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00214182
更新日期:1995-07-01 00:00:00
abstract::Congenital heart disease (CHD) affects over 40% of Down syndrome (DS) patients. The region proposed to contain the gene(s) for DS CHD has been restricted to 21q22.2-22.3, from D21S55 to MX1. The identification and functional characterization of the genes mapping to this region is a necessary step to understand the pat...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050693
更新日期:1998-03-01 00:00:00
abstract::The precise chromosomal localization of the gene for dentatorubral-pallidoluysian atrophy (DRPLA) was detected by deletion mapping. Segregation patterns of genotypes of polymerase chain reaction products of DRPLA, von Willebrand factor (F8vWF), antigen CD4(p55) (CD4) and parathyroid hormone-like hormone (PTHLH) loci w...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00218841
更新日期:1996-01-01 00:00:00
abstract::Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050385
更新日期:1997-04-01 00:00:00
abstract::The concept and role of endomitosis is reevaluated in the light of observations on three organisms. Endomitosis which morphologically agrees with Geitler's (1939) classical definition is compared in tapetal cells of the liliaceous plant Eremurus, in the septal cells of the testicular follicles of the grasshopper Melan...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285390
更新日期:1983-01-01 00:00:00
abstract::The structural abnormality of mRNA for argininosuccinate synthetase (ASS) and the structure of immune cross-reactive material for ASS (ASS-CRM) in the liver of a patient with type III citrullinemia were analyzed using dot and Northern blot hybridization, S1 nuclease analysis, and a sensitive enzyme-linked immunosorben...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283045
更新日期:1987-05-01 00:00:00
abstract::Two new variants of erythrocyte glucose 6-phosphate dehydrogenase are discovered in 3 unrelated Ashkenazi Jew patients with severe deficiency of enzyme. Both variants have a resemblance to 2 other variants in Ashkenazi: G6PD Boston and G6PD Kilgore, but have a significantly higher affinity for substrates and their ana...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281892
更新日期:1976-07-27 00:00:00
abstract::Familial long QT syndrome (LQTS) is characterized by prolonged ventricular repolarization. Clinical symptoms include recurrent syncopal attacks, and sudden death may occur as a result of ventricular tachyarrhythmias. Three genes responsible for this syndrome (KVLQT1, HERG, and SCN5A) have been identified so far, and m...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050717
更新日期:1998-04-01 00:00:00
abstract::Defective function of the Sonic Hedgehog (SHH) signaling pathway is the most frequent alteration underlying holoprosencephaly (HPE) or its various clinical microforms. We performed an extensive mutational analysis of the entire human DISP1 gene, required for secretion of all hedgehog ligand(s) and which maps to the HP...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0628-7
更新日期:2009-05-01 00:00:00
abstract::Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder caused by mutations in the hydroxymethylbilane synthase (HMBS) gene. Direct detection of mutations is becoming the method of choice for the accurate identification of asymptomatic affected individuals within AIP families so that they can...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050995
更新日期:1999-06-01 00:00:00
abstract::A retrospective study of 200 missed abortions was performed to determine whether morphological criteria alone are sufficient to ascertain a chromosomal aetiology. Placental changes were classified into five morphological and four morphometric groups, according to the severity of alterations, and were then correlated w...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00274002
更新日期:1989-07-01 00:00:00
abstract::A functionally inactive plasminogen (PLG) variant designated as PLG M5 is polymorphic in the Japanese population and has a feature common to PLG with type-I mutation that has a codon 601 missense mutation in exon 15 (GCT for Ala-->ACT for Thr). This study was conducted to clarify whether the type-I mutation of PLG is ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210737
更新日期:1992-09-01 00:00:00
abstract::Postprandial triglyceridemia is an emerging risk factor for cardiovascular disease. However, most of the genes that influence postprandial triglyceridemia are not known. We evaluated whether a common nonsynonymous SNP rs1260326/P446L in the glucokinase regulatory protein (GCKR) gene influenced variation in the postpra...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0700-3
更新日期:2009-10-01 00:00:00