People v. Hardy.
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Beginning of Human Life↗
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Racial variation in retinopathy of prematurity. The Cryotherapy for Retinopathy of Prematurity Cooperative Group.
OBJECTIVES: To determine and compare the incidence of severe, vision-threatening retinopathy of prematurity (ROP) in black and white low-birth-weight infants. DESIGN: Prospective cohort study. SETTING: Seventy neonatal intensive care units in 23 US participating centers in the Multicenter Trial of Cryotherapy for Retinopathy of Prematurity. PATIENTS: A total of 4099 premature infants weighing less than 1251 g at birth were enrolled to evaluate the natural history of ROP. This 'Natural History' cohort included 2158 white infants and 1584 black infants who were followed up prospectively according to a Natural History protocol. MAIN OUTCOME MEASURES: Incidence and severity of acute ROP. RESULTS: While ROP occurred with similar frequency in all racial subgroups, severe ROP was less common in black infants. One hundred sixty (7.4%) of 2158 white infants reached threshold ROP (defined as at least 5 contiguous or 8 cumulative clock-hours of stage 3 retinopathy in zone 1 or zone 2 in the presence of "plus disease" [dilation and tortuosity of the posterior pole blood vessels]), but only 51 (3.2%) of 1584 black infants progressed to threshold ROP. Using multiple logistic regression analysis, race emerged as a highly significant factor (P < .001) in the development of threshold disease, even when birth weight, gestational age status at delivery, sex, multiple births, and transport status were considered. CONCLUSIONS: Severe, vision-threatening ROP occurs with greater frequency in low-birth-weight white infants than in low-birth-weight black infants who are seemingly at equivalent risk. The reason for this disparity is unknown. We speculate that differences in retinal pigmentation may confer relative protection against free radical-mediated phototoxic injury in black infants.
Birth Weight↗
Growth and development in an "inner city" population: an assessment of possible biological and environmental influences. I. Intra-uterine growth.
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Birth Weight↗
Ethnic differences: word descriptors used by African-American and white asthma patients during induced bronchoconstriction.
STUDY OBJECTIVES: To determine if African-American and white patients with asthma (1) differ in the words they use to describe their breathlessness, and (2) differ in their perception of breathlessness. DESIGN: Descriptive cross-sectional design. SETTING AND PARTICIPANTS: The study setting was located in Northern California, an ethnically and economically diverse area. A total of 32 subjects, 16 per group, completed the study. MEASUREMENTS: All had a provocation concentration of methacholine chloride causing a 30% fall in FEV(1) (PC(30)) of </= 8 mg/mL. Serial pulmonary function testing was performed. Breathlessness was measured using the Borg scale and the visual analog scale. Word descriptors were measured by an open-ended word descriptor questionnaire. RESULTS: Significant ethnic differences in the words used to describe the sensation of breathlessness were present at PC(30). African Americans used upper airway word descriptors: tight throat (p < 0. 0004), scared-agitated (p < 0.006), voice tight (p < 0.04), itchy throat (p < 0.03), and tough breath (p < 0.04). Whites used lower airway or chest-wall symptom descriptors: deep breath (p < 0.03), light-headed (p < 0.03), out of air (p < 0.01), aware of breathing (p < 0.03), and hurts to breathe (p < 0.06). In addition, African Americans required a significantly smaller, 44.3% (mean), dose of methacholine to achieve PC(30) (p < 0.02). CONCLUSION: This study provides valuable new information about ethnicity and the words used to describe breathlessness during airflow obstruction. Asthmatic African Americans used primarily upper airway word descriptors; whites used lower airway or chest-wall word descriptors. Effective symptom monitoring requires asking the correct question and awareness that ethnic differences in the words used to describe breathlessness may exist.
Administration, Inhalation↗
Restriction fragment length polymorphisms of three collagen genes in Russians and Buryats.
The restriction fragment length polymorphisms (RFLPs) of 3 collagen genes have been studied in two USSR populations. Four high-frequency alleles, also reported in other populations, were observed. The frequencies of alleles for the polymorphic sites MspI and EcoRI of the COL1A2 gene, HindIII of the COL2A1 gene and EcoRI of the COL3A1 gene were found to be 0.836, 0.398, 0.447 and 0.786, respectively, in Russians from Moscow (Caucasians), and 0.883, 0.519, 0.648 and 0.809, respectively, in Buryats from the Baikal region (Mongoloids). The RFLPs showed a fair agreement with the Hardy-Weinberg equilibrium. The frequencies were compared with those of other populations.
Alleles↗
Autosomal STR genetic variation in negroid Chocó and Bogotá populations.
Genetic data for eight autosomal STRs were obtained from two different population samples from Colombia: the European Mestizo population of Bogotá and the African descent population of the Chocó region. The STRs were analysed in a multiplex system that includes the STR markers CSF1PO, TPOX, TH01, VWA, D13S317, D7S820, D16S539 and D5S818. Separation of the fragments and fluorescent detection was carried out in an ABI 310 DNA sequencer and the typing was made by comparison with sequenced allelic ladders. Exact tests were used for testing linkage between the loci and for Hardy-Weinberg equilibrium. Significant differences were found between both populations for all the loci.
Alleles↗
[Connection of HindIII-polymorphism in the lipoprotein lipase gene with myocardial infarct and life span in elderly ischemic heart disease patients].
Allele and genotype frequencies of the HindIII polymorphism of the lipoprotein lipase (LPL) gene were studied in patients with myocardial infarction (MI) and stable angina of effort (SAE), including long-lived people (over 90). The polymorphism proved to be associated with MI and with the life span, genotype H+/H+ being predisposing to MI and allele H- being protective. The allele and genotype frequencies of long-lived people differed significantly from the Hardy-Weinberg proportions and from those of SAE patients aged up to 90. An excess of heterozygotes in this group suggests a selective pressure which eliminates homozygotes. Possibly, heterozygotes H+/H- have an adaptive advantage, which provides for their longevity.
Aged↗
[Complex medico-genetic study of the population of western Siberia. III. Distribution of phenotypes and gene frequencies in the northern Khanty population].
Distribution of phenotypes and gene frequencies for 5 polymorphic loci as well as frequencies of incidence of some anthroposcopic parameters in five subpopulations of the North Khanty population is presented. A comparative analysis was performed for the traits studied among the people of Finno-Ugric group and of North Asia. Wahlund's variance values point to significant subdivision of the population in question. Disruption of the Hardy-Weinberg equilibrium for haptoglobin locus was observed in two subpopulations. Estimates of inbreeding coefficients obtained by different ways (from gene frequencies, genealogy and isonymy) are compared.
Anthropometry↗
Genetic diversity at 15 microsatellite loci among the Adi Pasi population of Adi tribal cluster in Arunachal Pradesh, India.
Genetic polymorphisms at 15 tetrameric short tandem repeat (STR) loci were studied in 203 healthy individuals of Adi Pasi population from Arunachal Pradesh, India. All the loci analyzed were highly polymorphic and there was no significant deviation from the Hardy-Weinberg equilibrium (HWE) excepting D8S1179 and D18S51. Other forensic useful statistical parameters were also calculated and the 15 microsatellite markers selected for this study were found to be suitable for human identification and population genetic studies.
Asian People↗
[Population study of D1S80 locus in Caucasians living in the Ural region of Russia by capillary electrophoresis].
A series of screening tests showed that separation of polymerase chain reaction products and identification of D1S80 by capillary electrophoresis with the use of hydroxyethyl cellulose as the substituting screening template and double internal DNA reference is an accurate, rapid, and reliable method, fit for routine use. D1S80-allele frequencies for Caucasian population were determined in a population of 340 unrelated individuals living in the Ural region of Russia. The D1S80 genotypical frequencies in this population sample do not statistically deviate from the Hardy-Weinberg expectations. The discrimination power for this locus is 0.935. Significant deviations from the zero hypothesis of population homogeneity were detected by comparison of 4 Caucasian population samples. Differences in the frequencies of alleles 25, 30, and 31 seem to be the main cause of heterogeneity in paired comparison.
Electrophoresis, Capillary↗
A comparison of general nurses' and junior doctors' diabetes knowledge.
People with diabetes may be hospitalised for the condition or another reason. Either way, they need special care to avoid diabetes-related complications. General ward nurses and trainee doctors were tested on their knowledge of diabetes, with poor results in some areas. The questionnaire used could prove a useful tool for identifying and addressing these problems.
Clinical Competence↗
Swiss population data on the loci HLA-DQ alpha, LDLR, GYPA, HBGG, D7S8, Gc and D1S80.
Allele and genotype frequencies for seven polymerase chain reaction-based DNA genetic markers were determined in a Swiss sample population. The loci are D1S80, HLA-DQ alpha, low density lipoprotein receptor, glycophorin A, hemoglobin G gammaglobin, D7S8, and group-specific component. All loci meet Hardy-Weinberg expectations. In addition, there is no detectable association of alleles between loci. The frequency data can be used in forensic analyses and paternity tests to estimate the frequency of a DNA profile in the Swiss population.
DNA↗
BDNF tagging polymorphisms and haplotype analysis in sporadic Parkinson's disease in diverse ethnic groups.
Experimental and clinical data suggest that genetic variations in brain-derived neurotrophic factor (BDNF) gene may affect risk for Parkinson's disease (PD). We performed a case-control association analysis of BDNF in three independent Caucasian cohorts (Greek, North American, and Finnish) of PD using eight tagging SNPs and five constructed haplotypes. No statistically significant differences in genotype and allele frequencies were found between cases and controls in all series. A relatively rare BDNF haplotype showed a trend towards association in the Greek (p=0.02) and the Finnish (p=0.03) series (this haplotype was not detected in the North American series). However, given the large number of comparisons these associations are considered non-significant. In conclusion, our results do not provide statistically significant evidence that common genetic variability in BDNF would associate with the risk for PD in the Caucasian populations studied here.
Aged↗
The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.
Recently an Ile93Met mutation in the ubiquitin-carboxy-terminal-hydrolase-L1 gene (UCH-L1) has been described in a German family with Parkinson's disease (PD). The authors showed that this mutation is responsible for an impaired proteolytic activity of the UCH-L1 protein and may lead to an abnormal aggregation of proteins in the brain. In order to determine the importance of this or any other mutation in the coding region of the UCH-L1 gene in PD, we performed mutation analysis on Caucasian families with at least two affected sibs. We did not detect any mutations in the UCH-L1 gene, however, we cannot exclude mutations in the regulatory or intronic regions of the UCH-L1 gene since these regions were not sequenced. We conclude that the UCH-L1 gene is not a major gene responsible for familial PD.
Aged↗
Swiss Caucasian population data for the STR loci D2S1338 and D19S433 using the AmpFISTR SGM plus PCR amplification kit.
Allele and genotype frequencies for the ten STR loci D3S1358, VWA, D16S539, D2S1338, D8S1179, D21S11, D18S51, D19S433, TH01, FGA were determined in a Swiss Caucasian population sample (n=206) using the AmpFISTR SGM Plus Amplification kit. Electrophoresis was carried out on an ABI PRISM CE 310 Genetic Analyzer instrument. Previously, allele frequencies were published for the 13 STR loci D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, THO1, TPOX, CSF1PO and D16S539 for the same samples (n=206) amplified with the AmpFISTR Profiler Plus and Cofiler PCR Amplification kits. Since the results for the eight loci D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, THO1, D16S539 shared between the AmpFISTR SGM Plus, Profiler Plus and Cofiler PCR Amplification kits already are published, only the allele frequencies for the two STR loci D2S1338 and D19S433 are reported in this paper. The two loci meet Hardy-Weinberg expectations. In addition, there is little evidence for association of alleles among the 15 loci (amplified with the Profiler, Cofiler, and SGM Plus amplification kits). The allelic frequency data can be used in forensic analyses to estimate the frequency of a multiple STR locus DNA profile in the Swiss population.
Alleles↗
Swiss Caucasian population data for 13 STR loci using AmpFISTR profiler plus and cofiler PCR amplification kits.
Allele and genotype frequencies for the 13 core STR loci (D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, THO1, TPOX, CSF1PO, and D16S539) were determined in a Swiss Caucasian population sample (n = 206) using two commercially available multiplex PCR kits (AmpFISTR Profiler Plus and AmpFISTR Cofiler) and subsequent electrophoresis on an ABI PRISM CE 310 Genetic Analyzer instrument. All loci meet Hardy-Weinberg expectations. In addition, there is little evidence for association of alleles among the 13 loci. The allelic frequency data can be used in forensic analyses and paternity tests to estimate the frequency of a multiple STR locus DNA profile in the Swiss population.
Alleles↗
Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease.
Insulin-degrading enzyme (IDE; insulysin; EC 3.4.24.56) is a 110-kDa neutral metallopeptidase that can degrade a number of peptides including beta-amyloid. The gene encoding IDE is located on chromosome 10 close to a region of linkage for late-onset Alzheimer's disease (LOAD) and thus is a functional and positional candidate for this disorder. We analysed all of the coding exons, untranslated regions and 1000 bp of 5'-flanking sequence of IDE by using denaturing high-performance liquid chromatography and sequencing. We detected eight single nucleotide polymorphisms (SNPs), three in the 5' flanking sequence and five in the coding sequence, of which three were found at lower than 5% frequency. None of them changed the amino acid sequence. We genotyped the five SNPs with allele frequencies of more than 5% in 133 Caucasian LOAD cases and 135 controls collected in the UK and 95 cases and 117 controls collected at the Mayo Clinic, Rochester, USA. Two of the SNPs were analysed in a further independent case-control sample (Washington University, St. Louis: 86 cases, 94 controls). No significant association was found with any individual SNP in any of the samples or with any haplotypes. Analysis of the marker D10S583, which maps 36 kb upstream of IDE, also failed to show association in 134 cases and 111 matched controls from the UK ( P=0.63). Strong linkage disequilibrium was detected between the five SNPs that spanned the whole of the 120-kb genomic region of IDE and one major and a number of minor haplotypes were detected in the populations studied. We conclude that IDE does not make a substantial contribution to the aetiology of LOAD and therefore cannot account for the linkage between LOAD and 10q.
Age of Onset↗
APO A-V-1131T-->C polymorphism frequency and its association with morbidity in a Brazilian elderly population.
Identification of genetic polymorphisms as risk factors for complex diseases affecting older people can be relevant for their prevention, diagnosis and management. The -1131T-->C polymorphism of the apolipoprotein A-V gene (APO A-V) is tightly linked to lipid metabolism and has been associated with increased triglyceride levels and familial dyslipidemia. The aims of this study were to analyze the allele and genotype frequencies of this polymorphism in a Brazilian elderly population and to investigate any association between the polymorphism and major morbidities affecting elderly people. This polymorphism was investigated in 371 individuals, aged 66-97 years, in a Brazilian Elderly Longitudinal Population Study. Major morbidities investigated were: cerebrovascular diseases (CVD); myocardial infarction (MI); type 2 diabetes; hypertension; obesity; dementia; depression; and neoplasia. DNA was isolated and amplified by PCR and its products were digested with restriction enzyme Tru1I. T and C allele frequencies were 0.842 and 0.158, respectively. Our population showed allele frequencies that were similar to European and Afro-American and different from Asiatic populations. Genotype distributions were not within Hardy-Weinberg equilibrium only for the obesity subject sample. On the other hand, a significant association between the C allele and obesity in the presence of CVDxdepression interaction was observed. Logistic analysis showed no association of the polymorphism with each morbidity group. Therefore, the C allele in elderly Brazilian subjects may represent a risk factor for these morbidity interactions, which may lead to better comprehension of their pathophysiology.
Aged↗