Search

The Gly16Arg polymorphism results in a G to C nucleotide mutation in the human beta 2-adrenergic receptor (ADRB2) gene and has a relationship with obesity; however, this substitution’s effects on food preferences are unclear. Therefore, we determined this relationship among healthy young adults (mean age, 23.4; n = 52). To evaluate food preferences, four categories of food (sweet, salty, sour, and bitter) along with high-fat foods were evaluated using a self-reporting questionnaire. Male (n = 26) and female subjects (n = 26) were genotyped for the polymorphism and further divided into three groups (two homozygous groups, GG, CC; and a heterozygous group, GC). Preference for sour foods in the GG group was higher compared with that in the CC group in females (p < 0.05). When sweet foods were classified into low- and high-fat subgroups, preference for high-fat sweet foods in the GG group was higher than that for low-fat sweet foods in all subjects (p < 0.05). The degree of preference for high-fat foods in the GG group was higher than other groups for males (p < 0.05). These results suggest that ADRB2 polymorphism is associated with food preference. Understanding the relationship of ADRB2 substitution to food preference will be valuable for designing individualized anti-obesity strategies.

Beta3-adrenergic receptor (ADRB3) is a mediator of catecholamine-stimulated lipolysis in humans. The Trp64Arg polymorphism with T/C transition in the ADRB3 gene has been considered to reduce lipolysis and metabolic expenditure. Here, we investigated the hitherto unknown role of the Trp64Arg substitution on food preference among healthy young adults (mean age, 24.3; n = 53, including 25 men). Preference toward four food types (bitter, sour, salty, or sweet) and greasy (high-fat) foods was examined using a self-reported questionnaire. There was no noticeable sex-difference in food preference. Incidentally, only among female subjects, the genotype frequencies of the Trp64Arg polymorphism were in accordance with the Hardy-Weinberg equilibrium. Consequently, female subjects were divided into two groups for further analyses: 18 subjects with TT genotype (Trp64Trp) (wild-type group) and 10 subjects with TC genotype (Trp64Arg) (heterozygous group). No significant difference was observed in preference for four food types between the groups. However, when sweet foods were divided into high-fat and low-fat subgroups, food preference for high-fat sweet foods in heterozygous group was significantly higher than that in wild-type group. Moreover, when subjects were divided into two classes based on preference for greasy foods (like, n = 16 or dislike, n = 12), the preference degree in heterozygous group who liked high-fat foods (n = 5) was significantly higher than that in wild-type group (n = 11), suggesting that the Trp64Arg substitution might genetically enhance high-fat food preference. Thus, understanding the relationship between ADRB3 Trp64Arg substitution and fat preference will be valuable for obesity prevention.

Traces of long-lived fallout-derived radioisotopes ((134)Cs and (137)Cs) were found in wet and dry deposition samples collected from the west and east coasts of South Korea from March to May 2011 following the release of radionuclides from the damaged nuclear power plants in Fukushima, Japan. The analysis of air mass back trajectory and atmospheric pressure systems indicated that the Fukushima-derived radiocaesium had predominantly reached South Korea from the west by surface westerlies from 11 March to 5 April; however, after 6 April, air masses arrived from Japan directly due to a high pressure system that developed to the east of Japan. Spatial variation of deposition fluxes of radiocaesium in South Korea was partly attributed to the presence of local longitudinal orography.

Objectives: The contribution of the microsatellite polymorphisms of TNFa and TNFb, and the TNFB + 252 (TNFB) dimorphism to the pathogenesis of rheumatoid arthritis (RA) was studied among Japanese patients., Methods: The TNFa and TNFb microsatellite polymorphisms, and the TNFB dimorphism were determined in Japanese RA patients and normal subjects using electrophoresis followed by specific PCR amplification. HLA-DRB1*04 typing was carried out by the PCR-SSCP method., Results: The allele frequency of TNFa11 showed a significant increase in RA with DRB1*0405 when compared to that in RA without DRB1*0405 (28.5% Vs 12.9%, respectively, p = 0.022). An association analysis indicated that TNFa11 was not primary, but secondary to the increase in HLA-DRB1*0405, because TNFa11 showed a strong positive association with HLA-DRB1*0405 in Japanese controls. The slight increase in the TNFb4 allele observed in RA with DRB1*0405 (50.0%) may be reflective of the increase in TNFa11 and DRB1*0405. In RA with DRB1*0405, the allele frequency of TNFB*2 significantly increased compared to that of normal controls (75.0% Vs 55.3%, respectively, p = 0.007) and compared to that of RA without DRB1*0405 (45.0%, p = 0.001). No significant positive association of TNFB*2 with HLA-DRB1*0405 or TNFa11 in Japanese controls might suggest that the increase in the TNFB*2 allele might not be secondary to the increase in DRB1*0405, and that TNFB*2 might contribute additively to DRB1*0405-positive RA in Japanese., Conclusion: TNFB*2 may contribute additively to Japanese RA with HLA-DRB1*0405, while TNFa11 and TNFb4 are not independent genetic markers of RA among Japanese.

The contribution of the tumour necrosis factor (TNF) B + 252 (TNFB) dimorphism and microsatellite polymorphisms of TNFa and TNFb to the pathogenesis of systemic lupus erythematosus (SLE) was studied in Japanese patients. The TNFB dimorphism was determined using the restriction fragment length polymorphism (RFLP) method with NcoI digestion followed by specific polymerase chain reaction (PCR) amplification. TNFa and TNFb microsatellite polymorphisms were determined using the DNA sequencer and GeneScan program (Applera Corporation, Foster City, CA) followed by specific PCR amplification. HLA-DRB1*15 typing was carried out by the PCR-sequence specific conformational polymorphism (SSCP) method. In SLE, the allele frequency of TNFB*2 significantly increased (68.9%, P < 0.05) and the genotype frequency of TNFB*2/2 also increased (52.8%, P < 0.05). TNFB*2 showed no significant linkage disequilibrium with HLA-DRB1*1501. The prevalence of TNFa13 and TNFb4 showed very slight increases, but these increases were not significant. An association analysis indicated that TNFB*2/2 conferred greater, or at least equal, susceptibility to SLE in Japanese patients in comparison with HLA-DRB1*1501. The TNFB*2/2 genotype may contribute additively with DRB1*1501 to SLE in Japanese patients. No association was observed between auto-antibodies and TNF. TNFB*2 is a genetic marker for SLE in Japanese patients, while TNFa and TNFb microsatellites are not associated with SLE.

Water sampling during the 1993 IV Russian-US Joint Expedition to the Bering and Chukchi Seas (BERPAC) indicates that Pacific Ocean burdens of the long-lived radionuclide 129I are relatively low in the Pacific-influenced Arctic, particularly compared to high latitude waters influenced by the North Atlantic. These low concentrations occur despite the presence of potential submerged anthropogenic sources in the East Sea (Sea of Japan), and in the northwest Pacific Ocean, east of the Kamchatka Peninsula. The concentration of 129I entering the Arctic Ocean through Bering Strait, approximately 0.7 x 10(8) atoms kg(-1), is only slightly higher than observed in deep Pacific waters. Similar concentrations (0.44-0.76 x 10(8) atoms kg(-1)) measured in Long Strait indicate no significant transfer of 129I eastward into the Chukchi Sea in the Siberian Coastal Current from the Siberian marginal seas to the west. However, the concentrations reported here are more than an order of magnitude higher than the Bering Strait input concentration estimated (1.0 x 10(6) atoms kg(-1)) from bomb fallout mass balances, which supports other existing evidence for a significant atmospheric deposition term for this radionuclide in surface ocean waters. Near-bottom water samples collected in productive waters of the Bering and Chukchi Seas also suggest that sediment regeneration may locally elevate 129I concentrations, and impact its utility as a water mass tracer. As part of this study, two deep 129I profiles were also measured in the East Sea in 1993-1994. The near-surface concentration of 129I ranged from 0.12 to 0.31 x 10(8) atoms kg(-1). The 129I concentration showed a steady decrease with depth, although because of active deep water ventilation, the entire 3000 m water column exceeded natural concentrations of the radionuclide. Atom ratios of 129I/137Cs in the East Sea also suggest an excess of 129I above bomb fallout estimates, also possibly resulting from atmospheric deposition ultimately originating from nuclear facilities.

Sediment cores collected from the deep basins of the East Sea (Sea of Japan) provide an ongoing and historical record of artificial radionuclides contamination into one of the most highly publicized radioactive waste dumping areas in the world ocean. The depth distributions of 90Sr, 137Cs and 239,240Pu in sediment cores were investigated with the aid of 210Pb-derived sediment accumulation and mixing rates in the deep basins of the East Sea (Sea of Japan). Five box core samples were collected from the northern Yamato Ridge, Korea Plateau, Ulleung and Japan Basins below 1000-m depth. Sediment inventories of 137Cs and 239,240Pu are inversely correlated with water depth and linearly correlated with sediment accumulation rates. The inventories of these nuclides are linearly correlated with the accumulation rates of organic carbon in sediments. The 238Pu/239,240Pu activity ratios in sediments are 0.036 +/- 0.009 suggesting that most of the Pu to the study area is derived from the global fallout. The activity ratios of 239,240Pu/137Cs, and 90Sr/137Cs in bottom sediments are much lower than those of global fallout due to the differences of particle affinity and biological uptake of these nuclides. Sediment inventories of 90Sr and 137Cs constitute < 4% of the anticipated inventories from the global fallout, while those of 239,240Pu constitute 30-150% of the anticipated inventories from the global fallout. The residence time of the dissolved 239,240Pu in the study area is estimated to be 200-400 years based on the sediment inventory and/or sediment accumulation rate, and water column inventory.

Associations between polymorphisms of DMA and DMB alleles and systemic lupus erythematosus (SLE) were studied in 51 Japanese SLE patients and 77 normal subjects by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Phenotype frequencies of DMB*0101 tended to increase in SLE, but the difference was not significant (76.5% vs 70.1% in controls). The phenotype frequency of DMB*0103 was decreased in the SLE group, but the difference was not significant (49.0% vs 53.2%). Furthermore, there was no evidence of any association of either DMA or DMB alleles with HLA-DRB1*1501. The phenotype frequency of DMB*0101 was higher in the SLE group with anti-double-stranded DNA antibody (a-dsDNA) than in the SLE group without a-dsDNA, but the difference was not significant (P = 0.045, corrected P not significant). No other DMA or DMB alleles showed any associations in various immunological subgroups of SLE. These data suggest that neither the DMA nor the DMB gene determines susceptibility to SLE in Japanese.

Objective: The contribution of the polymorphism of complement C4A and C4B alleles to the pathogenesis of systemic sclerosis (SSc) was studied in Japanese patients., Methods: C4A and C4B typing was carried out in 44 SSc patients and in 83 normal subjects using electrophoresis followed by immunofixation and immunoblotting. HLA-DR typing and HLA DRB1*15 and *08 genotyping were carried out by the PCR method and the PCR-SSCP method, respectively., Results: In SSc with diffuse scleroderma, the frequency of C4BQ0 was significantly increased (44.4%, p < 0.001, pc < 0.01). In SSc with antitopoisomerase I antibody (a-Scl-70) C4BQ0 was also increased (50.0%, p < 0.001, pc < 0.01). Association analysis indicated that the increase in C4BQ0 was not primary but reflected an increase in HLA-DRB1*1502. In contrast, C4A/Q0 was significantly increased in limited scleroderma (53.8%, p < 0.005, pc < 0.05) and SSc without a-SCL-70 (53.8%, p < 0.005, pc < 0.05)., Conclusion: Diffuse scleroderma with SSC with a-Scl-70 have different genetical backgrounds from limited scleroderma and SSc without a-Scl-70, respectively, in Japanese patients. C4AQ0 were independent genetic markers for each clinical subgroup and for a a-Scl-70 positivity.

Objective: To clarify the contribution of HLA-DR genes to the susceptibility to progressive systemic sclerosis (PSS)., Methods: HLA-DR typing was carried out in 36 Japanese patients with PSS, 42 with systemic lupus erythematosus and 104 healthy subjects by polymerase chain reaction (PCR) method using specific primers and by PCR-SSCP (single-standard DNA conformation polymorphism) method., Results: A haplotype DRB1*1502-DRB5*0102 was significantly increased in PSS (50.0%, p < 0.00004, pc < 0.001), especially in antitopoisomerase I antibody (a-Scl-70) positive patients (62.5%, p < 0.00003, pc < 0.001) and PSS with diffuse scleroderma (75.0%, p < 0.00001, pc < 0.0001). In addition, DRB1*0802 was also increased in DRB1*1502 negative patients with a-Scl-70, (50.0%, p = 0.033, pc = not significant) and in DRB1*1502 negative patients with diffuse scleroderma (75.0%, p = 0.008, pc = not significant). Thus, 81.3% of a-Scl-70 positive patients, and 93.8% of patients with PSS with diffuse scleroderma showed either HLA-DRB1*1502 or 0802., Conclusions: Our observations show the extreme difference of genetic background of a-Scl-70 positive PSS, with regard to HLA-DR, between Japanese and other ethnic groups including Caucasian and American black persons. The increase in DRB1*1502-DRB5*0102 haplotype supported the hypothesis of Reveille, et al that uncharged polar amino acid residue at position 30 of HLA-DQB1 allele was important for a-Scl-70 positive PSS because close association of the haplotype with DQB1*0601 was well established in Japanese; listed as a hypothetical candidate of PSS susceptible DQB1 allele. DRB1*0802 were also associated with hypothetical candidates of DQ alleles. Furthermore, the sharing of the particular amino acid sequence: valine38 and phenylalanine67-lysine68-glutamic acid69-asparic acid70-arginine71, by DRB5*0102, DRB1*0802 and DR11 (associated with Caucasian PSS) also suggests a contribution of the sequence in HLA-DR molecules to the pathogenesis of PSS according to the shared epitope hypothesis.