Methylenetetrahydrofolate reductase polymorphisms and interaction with smoking and alcohol consumption in lung cancer risk: a case-control study in a Japanese population

<p>Abstract</p> <p>Background</p> <p>Cigarette smoking is an established risk factor of lung cancer development while the current epidemiological evidence is suggestive of an increased lung cancer risk associated with alcohol consumption. Dietary folate, which is present in a wide range of fresh fruits and vegetables, may be a micronutrient that has a beneficial impact on lung carcinogenesis. Methylenetetrahydrofolate reductase (MTHFR) plays a crucial role in regulating folate metabolism, which affects both DNA synthesis/repair and methylation. We examined if smoking or alcohol consumption modify associations between <it>MTHFR </it>polymorphisms and lung cancer risk.</p> <p>Methods</p> <p>We evaluated the role of the <it>MTHFR </it>C677T (rs1801133) and A1298C (rs1801131) polymorphisms in a case-control study comprised of 462 lung cancer cases and 379 controls in a Japanese population. Logistic regression was used to assess the adjusted odds ratios (OR) and 95% confidence intervals (95% CI).</p> <p>Results</p> <p>The TT genotype of the C677T polymorphism was significantly associated with an increased risk of lung cancer (OR = 2.27, 95% CI = 1.42 - 3.62, P < 0.01) while the A1298C polymorphism was not associated with lung cancer risk. The minor alleles of both polymorphisms behaved in a recessive fashion. The highest risks were seen for 677TT-carriers with a history of smoking or excessive drinking (OR = 6.16, 95% CI = 3.48 - 10.9 for smoking; OR = 3.09, 95% CI = 1.64 - 5.81 for drinking) compared with C-carriers without a history of smoking or excessive drinking, but no interactions were seen. The 1298CC genotype was only associated with increased risk among non-smokers (P < 0.05), and smoking was only associated with increased risks among 1298A-carriers (P < 0.01), but no significant interaction was seen. There was a synergistic interaction between the A1298C polymorphism and drinking (P < 0.05). The highest risk was seen for the CC-carriers with excessive drinking (OR = 7.24, 95% CI = 1.89 - 27.7) compared with the A-carriers without excessive drinking).</p> <p>Conclusions</p> <p>The C677T polymorphism was significantly associated with lung cancer risk. Although the A1298C polymorphism was not associated with lung cancer risk, a significant interaction with drinking was observed. Future studies incorporating data on folate intake may undoubtedly lead to a more thorough understanding of the role of the <it>MTHFR </it>polymorphisms in lung cancer development.</p

Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese

We report two familial cases of NF1 presenting as C to T transitions changing an Arg-1947 codon to a stop codon. In one of the two families, cosegregation of the mutation with NF1 was demonstrated, indicating this mutation causes the disease in this family. As the same mutation at Arg-1947 has been reported previously in three cases of unrelated Caucasians (two are sporadic; the origin of the other is not reported), the codon at Arg-1947 (CGA) in the NF1 gene is considered to be a hotspot common among different ethnic groups and also among familial and sporadic cases.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/47635/1/439_2004_Article_BF00218920.pd

Guideline for Hereditary Angioedema (HAE) 2010 by the Japanese Association for Complement Research - Secondary Publication

ABSTRACTThis guideline was provided by the Japanese Association for Complement Research targeting clinicians for making an accurate diagnosis of hereditary angioedema (HAE), and for prompt treatment of the HAE patient in Japan. This is a 2010 year version and will be updated according to any pertinent medical advancements

A Genome-Wide Association Study Identified AFF1 as a Susceptibility Locus for Systemic Lupus Eyrthematosus in Japanese

Systemic lupus erythematosus (SLE) is an autoimmune disease that causes multiple organ damage. Although recent genome-wide association studies (GWAS) have contributed to discovery of SLE susceptibility genes, few studies has been performed in Asian populations. Here, we report a GWAS for SLE examining 891 SLE cases and 3,384 controls and multi-stage replication studies examining 1,387 SLE cases and 28,564 controls in Japanese subjects. Considering that expression quantitative trait loci (eQTLs) have been implicated in genetic risks for autoimmune diseases, we integrated an eQTL study into the results of the GWAS. We observed enrichments of cis-eQTL positive loci among the known SLE susceptibility loci (30.8%) compared to the genome-wide SNPs (6.9%). In addition, we identified a novel association of a variant in the AF4/FMR2 family, member 1 (AFF1) gene at 4q21 with SLE susceptibility (rs340630; P = 8.3×10−9, odds ratio = 1.21). The risk A allele of rs340630 demonstrated a cis-eQTL effect on the AFF1 transcript with enhanced expression levels (P<0.05). As AFF1 transcripts were prominently expressed in CD4+ and CD19+ peripheral blood lymphocytes, up-regulation of AFF1 may cause the abnormality in these lymphocytes, leading to disease onset

Complement as a Biomarker for Systemic Lupus Erythematosus

Systemic lupus erythematosus (SLE) is a disease of immune complex deposition; therefore, complement plays a vital role in the pathogenesis of SLE. In general, complement levels in blood and complement deposition in histological tests are used for the management of SLE. Thus, the evaluation of complement status can be useful in the diagnosis of SLE, assessment of disease activity, and prediction of treatment response and prognosis. In addition, novel complement biomarkers, such as split products and cell-bound complement activation products, are considered to be more sensitive than traditional complement markers, such as serum C3 and C4 levels and total complement activity (CH50), which become more widely used. In this review, we report the complement testing in the management of SLE over the last decade and summarize their utility

Improvement on Information Capacity of Watermarked Images by Using Multi-Valued Area of Embedded Signals

Digital watermarking technology is very useful as a service for embedding ID data to analog content such as an image on printed material. Recently, many algorithms have been proposed for detecting watermarks from a captured image by a camera-equipped cellular phone. This paper focuses on an approach to embedding the ID data in a frequency domain. Although the approach has an advantage of robustness against a partial distortion of the captured image, the previous method along the approach has the problem of low limitation of embedded information capacity. This paper proposes a watermarking method for improving embedded information capacity by using multi-valued area of signals instead of binary signals. The feasibility of the proposed algorithm is confirmed in experiments using actual printed images.APSIPA ASC 2009: Asia-Pacific Signal and Information Processing Association, 2009 Annual Summit and Conference. 4-7 October 2009. Sapporo, Japan. Oral session: Low-level Color Image Processing (7 October 2009)

Simple Color Calibration Method by Projection onto Retroreflective Materials

Retroreflective materials have the property of directional reflection, reflecting light strongly in the direction of the light source, and have been used for road traffic signs. In recent years, retroreflective materials have been used in entertainment and industrial technologies, in combination with projection mapping technology. In general, color calibration is important when projectors are used to control reflected colors. In this study, we investigated a simple color calibration method for retroreflective materials with a 3D shape under the condition that they are observed in the same direction as the light source. Three types of retroreflective materials with different reflective properties were used. First, to measure the reflective properties of each reflective material, the reflective material was fixed to a flat plate and rotated, while the reflected light was measured in the same direction as the light source. It was then confirmed that the reflected light intensity varied smoothly with angular change, and appropriate measurement angles were investigated based on the AIC criterion, aiming to interpolate the reflectance characteristics from a small number of measurement angles. Color calibration was performed based on the reflectance characteristics obtained from the derived measurement angles, and the experiments showed that good color calibration was possible with fewer measurements