64 research outputs found
Within-pair differences of DNA methylation levels between monozygotic twins are different between male and female pairs
自発的ドック受診者群と企業健診受診者群の脳MRIにおけるT2高信号域個数の比較
he purpose of this study was to evaluate the difference in T2-elongated spots (T2ES) between self-referred and third party-referred subjects.The brain MRI studies of 814 healthy adults were assessed. The subjects were categorized into two groups. Group A included 312 self-referred subjects ranging in age from 49 to 65 years (mean age, 56.5 years). Group B included 502 third party-referred subjects same ranging in age (mean age, 54.3 years). All subjects were asked to complete an interview sheet dealing with current and past diseases. To compare the two groups, an ‘Age-related Grading System\u27 was created.Grade 4 was defined as including patients who had 10 to 14 more T2ESs than their age minus 49; 20.027771275620f Group B and 13.51111400240f Group A (P<0.05) were classified as Grade 4. Diabetes mellitus was present in 15.016010062550f Group A and 9.615734071165f Group B (P<0.05). Hyperlipidemia was present in 18.015710062563f Group A and 9.015035020146f Group B (P<0.01).Although diabetes mellitus and hyperlipidemia were more common in Group A, these diseases were considered to be well controlled. It would appear that the patients in Group A were more health conscious than those in Group B
Transcriptional activity of the 5′-flanking region of the thyroid transcription factor-1 gene in human thyroid cell lines
Thyroid transcription factor-1 (TTF-1, NKX2-1) is a homeodomain-containing transcriptional factor that binds to and activates the promoters of thyroid and lung-specific genes, such as thyroglobulin, thyroid peroxidase, and thyroid stimulating hormone receptor. TTF-1 is known to play a key role in the development of the thyroid. However, the precise mechanism of TTF-1 gene transcription in human thyroid cells has not been studied. The expression of transcriptional activity in various lengths of the 5′-flanking region of the human TTF -1 gene was studied in TTF-1 positive and negative human thyroid cell lines. Increased transcriptional activity was observed in thyroid cell lines containing plasmids that coded for a sequence proximal to the transcription start site of exon 1 of the TTF-1 gene. However, we did not observe any difference in promoter activity in the region up to −2.6 kb from the proximal transcription start site of the TTF-1 gene between TTF-1 positive and negative cells. These results suggest that the proximal 5′-flanking region of the human TTF -1 gene does not contain sufficient cis-active regulatory information to direct gene expression in thyroid cells, and that other cis- or trans-acting factors participate in the thyroid specific gene expression of TTF-1
Education in twins and their parents across birth cohorts over 100 years : an individual-level pooled analysis of 42 twin cohorts
Whether monozygotic (MZ) and dizygotic (DZ) twins differ from each other in a
variety of phenotypes is important for genetic twin modeling and for inferences
made from twin studies in general. We analyzed whether there were differences in
individual, maternal and paternal education between MZ and DZ twins in a large
pooled dataset. Information was gathered on individual education for 218,362
adult twins from 27 twin cohorts (53% females; 39% MZ twins), and on maternal and
paternal education for 147,315 and 143,056 twins respectively, from 28 twin
cohorts (52% females; 38% MZ twins). Together, we had information on individual
or parental education from 42 twin cohorts representing 19 countries. The
original education classifications were transformed to education years and
analyzed using linear regression models. Overall, MZ males had 0.26 (95% CI
[0.21, 0.31]) years and MZ females 0.17 (95% CI [0.12, 0.21]) years longer
education than DZ twins. The zygosity difference became smaller in more recent
birth cohorts for both males and females. Parental education was somewhat longer
for fathers of DZ twins in cohorts born in 1990-1999 (0.16 years, 95% CI [0.08,
0.25]) and 2000 or later (0.11 years, 95% CI [0.00, 0.22]), compared with fathers
of MZ twins. The results show that the years of both individual and parental
education are largely similar in MZ and DZ twins. We suggest that the
socio-economic differences between MZ and DZ twins are so small that inferences
based upon genetic modeling of twin data are not affected.SIMSAM 340-2013-5867, Stockholm County Council (ALF-projects), the Swedish Heart-Lung Foundation and the Swedish Asthma and Allergy Association’s Research Foundation.Accepte
Polymorphisms and expression of genes encoding Argonautes 1 and 2 in autoimmune thyroid diseases
The microRNA (miRNA) biogenesis pathway is regulated by specific proteins and enzymes, including Dicer, Drosha, DGCR8, Exportin 5 and the Argonaute (AGO) family. In this study, we investigated the AGO family, which is the primary component of RISC (RNA-induced silencing complex) and directly binds to microRNA. We examined the association of polymorphisms in AGO family genes with AGO expression and with the development and prognosis of autoimmune thyroid diseases. We genotyped AGO1 rs636832A/G, AGO2 rs7005286C/T, AGO2 rs11166985A/G and AGO2 rs2292779C/G polymorphisms in 184 Graves’ disease (GD) patients, 195 Hashimoto’s disease (HD) patients and 122 healthy volunteers using the polymerase chain reaction-restriction fragment length polymorphism method. We also examined the expression of AGO1 and AGO2 mRNAs in peripheral blood mononuclear cells (PBMC) obtained from 52 GD patients, 41 HD patients, and 25 healthy volunteers using quantitative RT-PCR methods. The G allele of AGO1 rs636832 and the A allele of AGO2 rs11166985 polymorphisms were significantly more frequent in GD patients than in healthy controls. The A allele of AGO2 rs11166985 was also significantly more frequent in intractable GD patients than in controls. The C carrier (CC + CG genotypes) and C allele of AGO2 rs2292779 polymorphism were significantly more frequent in intractable GD patients than in patients with GD in remission. Expression of AGO1 mRNA in PBMC was significantly higher in AITD patient than in controls, and that of AGO2 mRNA in PBMC was significantly higher in intractable GD patients than in patients with GD in remission. Furthermore, the expression levels of both the AGO1 and AGO2 genes were significantly correlated with the proportions of Th17 cells in PBMC. In conclusion, the polymorphisms of the AGO1 and AGO2 genes, the expression levels of which correlated with the proportion of Th17 cells, were associated with the development and prognosis of GD. The AGO2 rs2292779 C carrier and C allele were associated with the intractability of GD
Ratio of Serum IgG3 to Total IgG Concentration and Goiter Size Are Independent Factors in Intractability of Graves' Disease
An Overview of Multidisciplinary Research Resources at the Osaka University Center for Twin Research
Strong correlation between the prevalence of cerebral infarction and the presence of anti-cardiolipin/β2-glycoprotein I and anti-phosphatidylserine/prothrombin antibodies
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