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White Individuals (white + individual)
Selected AbstractsInvestigation of Adducin 2 (beta) DNA polymorphisms in genetic predisposition to diabetic nephropathy in Type 1 diabetesDIABETIC MEDICINE, Issue 8 2008D. Currie Abstract Aims Adducin 2 (beta) (ADD2) is a biological and positional candidate gene proposed to confer genetic risk for diabetic nephropathy. This study aimed to comprehensively investigate all common and putatively functional polymorphisms in the genomic region encompassing this gene. Methods Tag single nucleotide polymorphisms (n = 23) derived from phase II of the International HapMap Project and in silico functional variants (n = 2) were genotyped in 1467 White individuals from the British Isles (cases, n = 718; control subjects, n = 749) by a combination of Sequenom iPLEX and TaqMan technologies. Results ,2 analysis of genotype and allele frequencies in cases vs. control subjects revealed weak evidence for association of one variant at the 5% level of significance (rs10164951, P = 0.02). Adjusting for multiple testing in the present case,control collection negated this association. Conclusions We selected an appropriate subset of variants suitable for genetic investigations of the ADD2 gene and report the first investigation of polymorphisms in ADD2 with diabetic nephropathy. Our results suggest that common polymorphisms and putatively functional variants in the ADD2 gene do not strongly influence genetic susceptibility to diabetic nephropathy in this White population with Type 1 diabetes. [source] Individuals at increased coronary heart disease risk are characterized by an impaired microvascular function in skinEUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 7 2003R. G. IJzerman Abstract Background To investigate whether microvascular function in skin is a valid model to study the relationships between cardiovascular risk factors and microvascular function, we investigated skin microvascular function in individuals with increased coronary heart disease (CHD) risk. Materials and methods Forty-six healthy White individuals aged 30,70 years were studied. Coronary heart disease risk was assessed with the use of the CHD risk score according to the Framingham Heart Study, which is based on the risk factors age, blood pressure, cigarette smoking, total cholesterol, HDL cholesterol and diabetes. Endothelium-dependent and -independent vasodilation in skin were evaluated with laser Doppler after iontophoresis of acetylcholine and sodium nitroprusside. Videomicroscopy was used to measure recruitment of skin capillaries after arterial occlusion. Results Coronary heart disease risk score (i.e. the 10-year probability of CHD) varied from 1,37%. Microvascular function decreased with increasing quartiles of CHD risk (for acetylcholine-mediated vasodilation: 687, 585, 420 and 326%, P = 0·002; for nitroprusside-mediated vasodilation: 776, 582, 513 and 366%, P = 0·02; for capillary recruitment: 49·9, 44·6, 27·2 and 26·7%, P = 0·001). These trends were similar in men and women (P for interaction > 0·2) and independent of body mass index. Conclusions Increased CHD risk is associated with an impaired endothelium-dependent vasodilatation and capillary recruitment in skin, suggesting that microvascular function in skin is a valid model to study the relationships between cardiovascular risk factors and microvascular function. [source] Polymorphisms in the thymidylate synthase promoter and the DNA repair genes XRCC1 and XPD in a Brazilian populationENVIRONMENTAL AND MOLECULAR MUTAGENESIS, Issue 9 2006Renata Canalle Abstract Polymorphisms in genes responsible for maintaining genomic integrity are potential modifiers of disease risk. Since considerable interindividual and interethnic variation in DNA repair capacity has been associated with polymorphic alleles, we evaluated the frequency of the 2R/3R variants in the TS promoter, Arg194Trp and Arg399Gln in the XRCC1 gene, and Asp312Asn and Lys751Gln in the XPD gene in 364 healthy individuals from a Brazilian population separated by ethnicity (European ancestry and African ancestry). The genotypes were determined by PCR (TS) or by PCR-RFLP (XRCC1 and XPD). The frequency of the TS 3R allele was 0.56 for whites and 0.51 for nonwhites. In the case of the XRCC1 MspI polymorphism, the allele frequencies were 0.09 for 194Trp in both nonwhites and whites and 0.27 and 0.28 for 399Gln in nonwhites and whites, respectively. For the XPD 312Asn allele, we found a frequency of 0.25 in white individuals, which was significantly different (P = 0.025) from that seen in nonwhites (0.15). Similarly, the 751Gln polymorphic allele of the XPD gene was significantly more frequent (P < 0.002) in whites (0.30) than in nonwhites (0.20). The genotype frequencies were within Hardy,Weinberg equilibrium. We concluded that the genotype and allele frequencies of XPD gene polymorphism differed between white and nonwhite Brazilians, and that the frequencies of the XPD 312Asn and XRCC1 399Gln alleles in this Brazilian population showed ethnic variability when compared with those observed in other populations. Environ. Mol. Mutagen., 2006. © 2006 Wiley-Liss, Inc. [source] Race and ethnicity impact on the maximum proliferative response in peripheral blood lymphocytes from HIV-seropositive individualsHIV MEDICINE, Issue 6 2007MA Kolber Summary The effects of race and ethnicity on immunological function have not been fully studied in patients infected with HIV-1. To study such differences, 54 patients on virally suppressive highly active antiretroviral therapy (HAART) with CD4 counts >200 cells/,L had their peripheral blood lymphocytes (PBL) evaluated for response to recall antigen. Significant differences were found in the maximum responses for PBL from black individuals compared with those from white individuals, and the differences were highly significant when responses for African-Americans were compared with those for white-Hispanics. These findings support work delineating ethnicity and race as significant variables to be taken into account when looking at vaccination strategies and responsiveness to therapeutic pharmacological interventions. [source] Grey plumage colouration in the duck is genetically determined by the alleles on two different, interacting lociANIMAL GENETICS, Issue 1 2010Y. Gong Summary Based on the observation of a grey phenotype in the F1 generation from a cross between two white plumage duck varieties, the white Kaiya and the white Liancheng, we hypothesized a possible interaction between two autosomal loci that determine grey plumage. Using the parental and F1 individuals, seven testing combinations including five different F1 intercrosses (F2) and two different backcrosses (BC1 and BC2) were designed to test our hypothesis. It was demonstrated by chi-squared analysis that six test matings produced offspring in the expected ratios between the grey and white, with P- values ranging from 0.50 to 0.99. Another mating, where all white offspring were expected, produced 33 white individuals. These results verified that the interaction between two loci produced the grey phenotype. The C locus, which carries the recessive allele (c), was previously thought to be the only gene responsible for white plumage in the duck. This is the first report that an allele (t), carried by the white Liancheng at a different autosomal locus, also determines white plumage in ducks. Furthermore, the dominant alleles at both loci can interact with each other to produce the grey phenotype, and a new dark phenotype, observed in some F2 individuals, can be attributed to the dosage effect of the T allele. [source] Replication of the tumor necrosis factor receptor,associated factor 1/complement component 5 region as a susceptibility locus for rheumatoid arthritis in a European family-based studyARTHRITIS & RHEUMATISM, Issue 9 2008F. A. S. Kurreeman Objective We recently showed, using a candidate gene approach in a case,control association study, that a 65-kb block encompassing tumor necrosis factor receptor,associated factor 1 (TRAF1) and C5 is strongly associated with rheumatoid arthritis (RA). Compared with case,control association studies, family-based studies have the added advantage of controlling potential differences in population structure and are not likely to be hampered by variation in population allele frequencies, as is seen for many genetic polymorphisms, including the TRAF1/C5 locus. The aim of this study was to confirm this association in populations of European origin by using a family-based approach. Methods A total of 1,356 western European white individuals from 452 "trio" families were genotyped for the rs10818488 polymorphism, using the TaqMan allelic discrimination assay. Results We observed evidence for association, demonstrating departure from Mendel's law, with an overtransmission of the rs10818488 A allele (A = 55%; P = 0.036). By taking into consideration parental phenotypes, we also observed an increased A allele frequency in affected versus unaffected parents (A = 64%; combined P = 0.015). Individuals carrying the A allele had a 1.2-fold increased risk of developing RA (allelic odds ratio 1.24, 95% confidence interval 1.04,1.50). Conclusion Using a family-based study that is robust against population stratification, we provide evidence for the association of the TRAF1/C5 rs10818488 A allele and RA in populations of European descent, further substantiating our previous findings. Future functional studies should yield insight into the biologic relevance of this locus to the pathways involved in RA. [source] Tongue and tonsil carcinomaCANCER, Issue 9 200544 years, Increasing trends in the U.S. population ages 20 Abstract BACKGROUND An increasing incidence of oral carcinoma among young adults has been reported in the U.S. and Europe. Although the association between human papillomavirus infection and tonsillar carcinoma is now well established, to the authors' knowledge little is known about incidence trends in tonsillar carcinoma among younger adults. The objective of the current study was to explore the trends in both oral cavity and pharyngeal squamous cell carcinoma (SCC) in younger U.S. populations, in particular tongue and tonsillar SCC. METHODS Using the 1973,2001 Surveillance, Epidemiology and End Results (SEER) database, we computed age, race, and site-specific trends of oral and pharyngeal (excluding nasopharynx) carcinoma incidence rates. The percent change (PC) and annual percent change (APC) were computed to explore trends in incidence rates over time. RESULTS There were 2262 SCC of the oral cavity and 1251 SCC of the pharynx reported to the SEER program from 1973 to 2001 in adults aged 20,44 years. There was a statistically significant increase in the incidence of oral tongue SCC (APC = +2.1; P < 0.001), base of tongue SCC (APC = +1.7; P = 0.04), and palatine tonsil SCC (APC = +3.9; P < 0.001) among younger white individuals, whereas the incidence of SCC in all other oral and pharyngeal sites decreased or remained constant. CONCLUSIONS The increase in tonsil SCC incidence from 1973 to 2001 paralleled the increase in tongue SCC, whereas SCC in all other oral and pharyngeal sites remained constant or decreased. This may suggest similar etiologic factors for SCC affecting the palatine tonsils and tongue in younger populations. Cancer 2005. © 2005 American Cancer Society. [source] | |||||||||||||