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PubMed1997

Truncal tumor site is associated with high risk of multiple basal cell carcinoma and is influenced by glutathione S-transferase, GSTT1, and cytochrome P450, CYP1A1 genotypes, and their interaction.

Basal cell carcinoma (BCC) places increasing burdens on clinicians; incidence is rising and patients may develop multiple primary tumors. Although UV exposure is critical, many patients develop tumors at less-exposed sites, such as the trunk, suggesting a genetic predisposition. We previously showed that polymorphism in loci encoding the detoxifying enzymes, glutathione S-transferase (GSTM1, GSTM3, GSTT1) and cytochrome P450 (CYP2D6, CYP1A1) influences susceptibility to BCC. We now describe a case-control approach in 345 patients with BCC that examines the role of these polymorphisms and patient characteristics (age, gender, skin type, hair color, eye color, smoking, occupation) in determining susceptibility to truncal tumors. GST and CYP genotypes were identified using polymerase chain reaction-based methods. Patients with one or more truncal tumors were significantly younger (p = 0.0170) than those with no truncal tumors. Male gender also appeared more common in the truncal tumor group, although this did not achieve significance (p = 0.0925). Patients whose first tumor was truncal had significantly more tumors (p = 0.0297). GSTT1 null (p = 0.0245, odds ratio 2.24) and CYP1A1 Ile/Ile (p = 0.0386, odds ratio 2.86) were associated with truncal site after correction for age and gender. The combination, GSTT1 null and CYP1A1 Ile/Ile, was particularly significant (p = 0.0059, odds ratio = 2.95). These effects were present after correction for tumor numbers. These data show first, patients with truncal tumors constitute a high-risk group for BCC, second, a significant genetic influence on BCC site, and third, a significant interaction between GSTT1 and CYP1A1 genotypes.

Aged↗
PubMed1994

Are atypical nevi a risk factor for uveal melanoma? A case-control study.

Atypical nevi and other potential risk factors for uveal melanoma were studied in 109 uveal melanoma patients and 149 controls. Information concerning employment, medical history, drug use, family history of cancer, excess sun exposure, and blistering sunburn before and after the age of 15 was obtained. A total skin examination was performed and skin type, hair color, eye color, freckles, actinic damage, the total number of common acquired nevi, and the number of clinically atypical nevi were noted. More atypical nevi were found in uveal melanoma patients than in controls (age- and sex-adjusted odds ratio of 2.9 [95% confidence interval 1.2-6.3] for one or two atypical nevi versus none; odds ratio of 5.1 [95% CI 1.3-20.0] for three or more atypical nevi versus none). Light skin types and freckling also prevailed in uveal melanoma cases. In our study, atypical nevi are more common in uveal melanoma patients than in controls. Further studies will have to indicate whether risk factors comparable to those for cutaneous melanoma really exist for uveal melanoma.

Adult↗
PubMed1989

Markers and relative risk in a German population for developing malignant melanoma.

The relationship between cutaneous malignant melanoma (MM) and possible risk factors was assessed in a case-controlled study. Two hundred patients and 200 non-melanoma controls of German origin matched for age and sex were interviewed and examined for pigmented moles and pigmentation characteristics. In patients with MM significantly more melanocytic nevi greater than or equal to 2 mm (MCN) were found (mean, 53 MCN) compared to control cases (mean, 18 MCN). For persons with greater than 60 MCN the relative risk (RR) for developing MM increased 15 times compared to less than or equal to 10 MCN. Additional independent markers for an increased risk were presence of atypical MCN (RR = 7 vs. none) found in 45% of patients and in 5% of the control group, moderate to large numbers of actinic lentigines (RR = 6.2 vs. none), and lack of tanning as well as a tendency to sunburn (skin type I; RR = 2.2 vs skin type IV) No significant correlation was found between the relative risk for MM and hair color, eye color, duration of free time sun exposure and number of sunburns. Individuals with permanent outdoor profession and sun exposure, however, showed a clearly increased relative risk for developing MM.

Age Factors↗
PubMed2004

Assessment of the prevalence of heart murmurs in overtly healthy cats.

OBJECTIVE: To assess the frequency of heart murmurs in overtly healthy cats. DESIGN: Prospective study. SAMPLE POPULATION: 103 healthy domestic cats. PROCEDURE: Background information and physical characteristics were assessed in cats that were candidates for blood donation during an 8-month period. For cats with heart murmurs, additional information collected included murmur timing, grade, point of maximal intensity, and presence of additional heart sounds. RESULTS: Heart murmurs were detected in 22 of the 103 (21%) cats. Echocardiography was performed in 7 of those 22 cats. The echocardiogram was considered normal in 1 cat; in the other 6 cats, diagnoses included hypertrophic cardiomyopathy (interventricular septal hypertrophic form [IVSH]; n = 4), left ventricular concentric hypertrophy with valvular disease (1), and equivocal IVSH (1). Thirteen cats had more than 1 examination during the study; 3 of them developed heart murmurs. There were no significant differences in age, sex, breed, coat color, eye color, or heart rate between cats with and without murmurs. Among the 103 cats, there were 6 pairs of siblings from 6 multiple-cat households and 16 cats from 7 multiple-cat households in which the cats were not related; the proportion of cats with murmurs was higher in the related cats (5/12) than in the unrelated cats (3/16), but the difference was not significant. CONCLUSIONS AND CLINICAL RELEVANCE: Results indicated that heart murmurs are detectable in a large proportion of overtly healthy cats and that many murmurs appear to be caused by structural heart disease that is in a clinically latent state.

Animals↗
PubMed1995

Color vision deficit in normal-tension glaucoma eyes.

Color vision deficit in 26 eyes with normal-tension glaucoma (NTG) is compared with that in 21 eyes with primary open angle glaucoma (POAG) using the color perimetry method developed by Iijima et al. Subjects had visual field defects confined to either the upper or the lower hemifield as determined by conventional white-on-white perimetry, and the stage of disease was relatively early with an average mean deviation (MD) of -7 dB. Except for intraocular pressure, there were no significant differences between NTG and POAG subjects in age, refraction, MD, and mean total deviation for spared and damaged hemifield. In the spared hemifield, the incidence of blue-yellow abnormality was significantly different between the two diseases (P = 0.01); in only 11% of the present NTG eyes versus 52% of the POAG eyes in the present study. In the damaged hemifield, however, the blue-yellow abnormality was found in about 75% of the eyes, whether NTG or POAG. This finding may further shed light on the pathogenesis of open angle glaucoma.

Adult↗
PubMed1993

[Analysis of blood flow velocity in the ophthalmic artery by color Doppler imaging. 2. Studies on diabetic eyes].

Color Doppler imaging was used to investigate the changes in Pourcelot index (RI), which is an index for vascular resistance calculated from the blood flow velocity of the ophthalmic artery, related to the complications of diabetes mellitus (diabetic retinopathy, diabetic nephropathy) and systemic background (duration of diabetes mellitus, value of hemoglobin A1C (HbA1c)) in 46 diabetic patients and in 20 normal subjects. RI was significantly higher in diabetic patients than in normal subjects (p < 0.05). RI increased in patients without retinopathy (p < 0.05), in patients with background retinopathy (p < 0.05), and in patients with preproliferative or proliferative retinopathy (p < 0.05), but it did not change in patients after panretinal photocoagulation, compared with the normal subjects. In diabetic patients, RI was higher (p < 0.05) in patients with nephropathy than in those without nephropathy. The time from onset of diabetes mellitus and the value of HbA1c had no correlation with RI. Our results indicate that choroidal circulation was changed in diabetic patients compared with normal subjects and that the changes were related to diabetic nephropathy.

Aged↗
PubMed1993

[Analysis of blood flow velocity of ophthalmic artery with color Doppler imaging. 1. Studies on normal human eyes].

Color Doppler imaging was used to analyze the blood flow velocity of the ophthalmic artery (BVA) by measuring the pulse wave of flow velocity in the ophthalmic artery of normal subjects. Maximum systolic BVA (Vmax), minimum end-diastolic BVA (Vmin), time-averaged BVA (Vmean), Pourcelot index (RI) and pulsatility index (PI) were determined using color Doppler imaging. The coefficients of reproducibility of Vmax, Vmin, Vmean, RI and PI were 10%, 9%, 15%, 4% and 14%, respectively, when analyzed twice at one-hour intervals. There was no significant difference between the values of the right eye and that of the left eye in each case. The averages of Vmax, Vmin, Vmean, RI and PI of 33 normal eyes were 25.4 +/- 7.6 cm/sec, 6.3 +/- 2.3 cm/sec 16.7 +/- 6.6 cm/sec, 0.75 +/- 0.052, 1.19 +/- 0.25 (mean +/- S.D.), respectively, Vmax, Vmin and Vmean decreased significantly with age (Vmax:linear correlation coefficient r = -0.65, p < 0.001; Vmin: r = -0.61, p < 0.001, r = -0.64, p < 0.001. RI did not change with age. PI increased significantly with age (r = 0.30, p < 0.05).

Adult↗
PubMed1975

Temperature-sensitive prune (pn) mutations of Drosophila melanogaster.

Temperature-sensitive mutations, at the prune locus (pnts) of Drosophilia melanogaster, were induced with EMS. The majority of the new class of mutations, designated pnts-e, do not interact with the mutation Killer of prune (Kpn) at all of the experimental temperatures, i.e., pnts-e, Kpn flies do not die. One mutation, designated pnts-ek, is temperature-senstive with respect to both the eye coloration and the interaction with Kpn. pntr (temperature-non-sensitive), pnts-e, and pnts-ek alleles were found to differ with respect to both quantity of drosopterines and the color of the eyes. The temperature-sensitive period (TSP) for pn eye color occurs at a late pupal stage. The TSP for the pn--Kpn interaction lasts from the beginning of the first laraval instar to eclosion [22]. It is concluded that all pn mutations known to date occupy the same functional unit. The various pn mutations affect the same metabolic step to various degrees: the eye color phenotype results from a reduction in the end product, while the interaction with Kpn depends on the amount of the accumulated precursor. No recombination between pn alleles was found among more than 106 zygotes that were scored. The reasons for this failure are discussed.

Alleles↗
PubMed1977

Melanin distribution and sensitivity to group therapy.

Student participants in group therapy were hypothesized to improve on three dimensions of behavior as a result of therapy. It was further hypothesized that improvement would be related to participant eye color, with dark-eyed persons demonstrating greatest improvement and lighter-eyed individuals demonstrating lesser improvement. Differences were also expected from Ss by program. Ss were 35 male and female master's level students in clinical, counseling, and educational psychology programs, ranging in age from 23 to 39 years. Dependent measures were collected before and after therapy with the Vriend and Dyer Scale, an instrument yielding three factors: Self Defeating Behaviors, Fully Functioning Behaviors, and Personal Mastery Index. The design utilized a 3 (eye color) X 2 (program) two-way ANOVA, fixed effects model. Significant main effects were found for Fully Functioning Behaviors: by eye color (p less than .002) and by program (p less than .03). No interactions or other main effects were found.

Adult↗
PubMed2000

Complex segregation analysis of deafness in Dalmatians.

OBJECTIVE: To use pedigree analysis to evaluate the feasibility of a major locus model for deafness in Dalmatians. ANIMALS: 605 purebred Dalmatians from 42 families. PROCEDURE: Hearing loss was evaluated through the brainstem auditory-evoked response. Dogs were classified into mutually exclusive categories: normal hearing, unilaterally deaf, or bilaterally deaf. Information was collected on sex, coat color, presence or absence of a color patch at birth, and eye color. Statistical analyses were performed by use of regressive logistic models designed for complex segregation analysis. Genetic correlations among eye color, deafness, and color patch were estimated. RESULTS: Prevalence of hearing loss was 11% for dogs classified as unilaterally deaf and 5% for dogs that were bilaterally deaf. Complex segregation analysis detected statistical evidence of a single allele with an expected frequency of 0.21 that had an effect on the prevalence of deafness. Results of analyses suggested that this locus cannot completely explain the inheritance and incidence of deafness in Dalmatians. Genetic correlation estimates among deafness, eye color, and color patch revealed strong interrelationships among these characteristics. CONCLUSIONS AND CLINICAL RELEVANCE: To reduce the incidence of hearing loss in Dalmatians, unilaterally deaf, blue-eyed dogs should not be considered as potential parents.

Alleles↗
PubMed2004

Interactive effects of MC1R and OCA2 on melanoma risk phenotypes.

The relationships between MC1R gene variants and red hair, skin reflectance, degree of freckling and nevus count were investigated in 2331 adolescent twins, their sibs and parents in 645 twin families. Penetrance of each MC1R variant allele was consistent with an allelic model where effects were multiplicative for red hair but additive for skin reflectance. Of nine MC1R variant alleles assayed, four common alleles were strongly associated with red hair and fair skin (Asp84Glu, Arg151Cys, Arg160Trp and Asp294His), with a further three alleles having low penetrance (Val60Leu, Val92Met and Arg163Gln). These variants were separately combined for the purposes of this analysis and designated as strong 'R' (OR=63.3; 95% CI 31.9-139.6) and weak 'r ' (OR=5.1; 95% CI 2.5-11.3) red hair alleles. Red-haired individuals are predominantly seen in the R/R and R/r groups with 67.1 and 10.8%, respectively. To assess the interaction of the brown eye color gene OCA2 on the phenotypic effects of variant MC1R alleles we included eye color as a covariate, and also genotyped two OCA2 SNPs (Arg305Trp and Arg419Gln), which were confirmed as modifying eye color. MC1R genotype effects on constitutive skin color, freckling and mole count were modified by eye color, but not genotype for these two OCA2 SNPs. This is probably due to the association of these OCA2 SNPs with brown/green not blue eye color. Amongst individuals with a R/R genotype (but not R/r), those who also had brown eyes had a mole count twice that of those with blue eyes. This suggests that other OCA2 polymorphisms influence mole count and remain to be described.

Adolescent↗
PubMed1990

Aneuploidy in Drosophila, I. Genetic test systems in the female Drosophila melanogaster for the rapid detection of chemically induced chromosome gain and chromosome loss.

An account is provided of two genetic schemes in the Drosophila melanogaster female designed as rapid detectors of chemically induced aneuploidy, including both chromosome gain and chromosome loss. One scheme is referred to as FIX, in which the female carried free (heterozygously) inverted X (chromosomes) and the other, ZESTE, where females do not carry inversions and the X-linked sexually dimorphic zeste mutation plays the key role in the detection of aneuploid offspring. The principle attribute of the FIX system is that all euploid offspring are wild-type for body and eye color whereas aneuploid females have a yellow body and aneuploid males white eyes; int he ZESTE system all euploid individuals are wild-type for eye color, aneuploid females possess zeste-colored eyes and aneuploid males white eyes. In addition induced polyploidies (2X:2A gametes) appear as yellow and zeste male intersexes in the FIX and ZESTE systems, respectively. In this way all aneuploids are recognized immediately. Consequently, detection of compounds with weak effects requiring large sample sizes may be made in a fraction of the time associated with more traditional schemes for aneuploidy detection in Drosophila.

Aneuploidy↗
PubMed1975

Melanin as a predictor in the acquisition of developmental skills.

Seventy-two subjects were randomly drawn across grades K-12 and administered an instrument designed to measure developmental skills within seven skill area categories. A three-way ANOVA, fixed effects model, was used for data analysis. Subjects were blocked by eye color, sex, and grade level for the purpose of investigating the relationship between eye color and sex to self-paced and reactive behaviors. Significant differences were obtained on the main effect of eye color in five of the seven categories examined. There were three significant first order interactions (sex X eye color) and one three-way interaction. The findings support the hypothesis of Worthy that eye color is a dependable predictor of subjects' general behavioral competency area (self-paced or reactive) and adds considerable support for his thesis that self-paced and reactive behaviors are to some degree inherited.

Age Factors↗
PubMed2000

Iris color and cataract: the Blue Mountains Eye Study.

PURPOSE: To investigate the relationship between eye color and cataract. METHODS: A population-based cross-sectional study (N = 3654) was conducted near Sydney, Australia. Lens photographs were graded for cortical, nuclear, and posterior subcapsular cataract. Iris color was assessed at slit-lamp examination by comparison with four photographic standards. RESULTS: Eyes with dark brown irises were more likely to have nuclear (adjusted odds ratio, 1.59; 95% confidence interval [CI], 1.03 to 2.28) or posterior subcapsular cataract (adjusted odds ratio, 2.50; 95% CI, 1.57 to 3.98) than eyes with lighter-colored irises. CONCLUSIONS: People with dark brown eyes are at increased risk of cataract and should be encouraged to protect their eyes from direct exposure to sunlight.

Cataract↗
PubMed1996

Distinct difference in relative biological effectiveness of 252Cf neutrons for the induction of mitotic crossing over and intragenic reversion of the white-ivory allele in Drosophila melanogaster.

The relative biological effectiveness (RBE) of 252Cf neutrons was determined for two different types of somatic mutations, i.e., loss heterozygosity for wing-hair mutations and reversion of the mutant white-ivory eye-color, in Drosophila melanogaster. Loss of heterozygosity for wing-hair mutations results predominantly from mitotic crossing over induced in wing anlage cells of larvae, while the reverse mutation of eye color is due to an intragenic structural change in the white locus on the X-chromosome. For a quantitative comparison of RBE values for these events, we have constructed a combined mutation assay system so that induced mutant wing-hair clones as well as revertant eye-color clones can be detected simultaneously in the same individuals. Larvae were irradiated at the age of 80 +/- 4 h post-oviposition with 252Cf neutrons or 137Cs gamma-rays, and male adult flies were examined under the microscope for the presence of the two types of clonal mosaic spots appearing. The induction of wing-hair spots per dose unit was much greater for 252Cf neutrons than for 137Cs gamma-rays, whereas the frequencies of eye-color reversion were similar for neutrons and gamma-rays. The estimated RBE values of neutrons were 8.5 and 1.2 for the induction of mutant wing-hair spots and revertant eye-color spots, respectively. These results indicate that the RBE of neutrons is much greater for mitotic crossing over in comparison to the intragenic white-ivory reversion events. Possible causes for the difference in RBE are discussed.

Animals↗