Caucasian Subgroup Research Articles

Reexamination of a Measurement for Sexual Determination Using the Supero-Inferior Femoral Neck Diameter in a Modern European Population

The present study reexamines the accuracy of the supero-inferior femoral neck diameter for the determination of sex using a modern sample of French individuals. In 1998, Seidemann et al. used this univariate method for sex determination with the Hamann-Todd collection. Stojanowski and Seidemann in 1999 tested previous results on a modern sample taken from the University of New Mexico and concluded that the Caucasian male samples exhibited no significant differences between individuals born before and after 1900, but the Caucasian female subgroup did exhibit differences with an increase of the SID in the modern sample. The current study compares the previous results of the supero-inferior femoral neck diameter with a modern sample of elderly French individuals born after 1910. Both sides of the femur were measured. No statistical difference was found between the right and left side (p = 0.31). The results showed a significant difference between the pre-1900 and the modern sample, with an increase in femoral neck diameter in modern populations. The comparison of the SID values between the two modern samples (Mexico and Nice) showed no significant differences in the femoral neck diameter in the two male subgroups (p = 0.05), but the measurements of the SID in the female subgroup did exhibit significant differences with an increase of the neck femoral diameter (p < 0.01) in the modern French population. These results demonstrate an increase in the neck femoral morphology in the elderly European French females samples.

Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene.

Serotonergic receptor binding in the arcuate nucleus, n. raphé obscurus, and other medullary regions is decreased in sudden infant death syndrome (SIDS) cases. Further, a variable tandem repeat sequence polymorphism in the promoter region of the serotonin transporter protein (5-HTT) gene has recently been associated with risk of SIDS in a Japanese cohort. This polymorphism differentially regulates 5-HTT expression, with the long allele (L), the SIDS-associated allele, being a more effective promoter than the short allele (S). We therefore investigated the 5-HTT promoter polymorphism in a cohort of 87 SIDS cases (43 African American and 44 Caucasian) and gender/ethnicity-matched controls. Significant positive associations were found between SIDS and the 5-HTT genotype distribution (P = 0.022), specifically with the L/L genotype (P = 0.048), and between SIDS and the 5-HTT L allele (P = 0.005). There was also a significant negative association between SIDS and the S/S genotype (P = 0.011). The comparisons were repeated in the African American and Caucasian subgroups. The data patterns were consistent in the subgroups, i.e., the L/L genotype and L allele were increased in the cases, but not all subgroup comparisons were statistically significant. These results indicate a relationship between SIDS and the L allele of the 5-HTT gene in African Americans and Caucasians, and if confirmed, will provide an important tool for identifying at-risk individuals and estimating the risk of recurrence.

Association of angiotensin-converting enzyme polymorphisms with systemic lupus erythematosus and nephritis: analysis of 644 SLE families.

Angiotensin II is a strong candidate for the perpetuation of autoimmunity, nephritis and visceral damage in systemic lupus erythematosus (SLE). Our goal was to determine whether angiotensin-converting enzyme (ACE) gene polymorphisms are associated with SLE and/or lupus nephritis (LN). We genotyped 644 SLE patients and 1130 family members for three ACE gene polymorphisms: Alu insertion/deletion (I/D), 23949 (CT)(2/3) and 10698 (G)(3/4). All patients met the American College of Rheumatology (ACR) criteria for SLE, and all LN patients met ACR renal criteria and/or had biopsy evidence of LN. We used the transmission/disequilibrium test (TDT) to examine associations between each polymorphism and SLE, including Caucasian, non-Caucasian, and LN subgroups. We also examined transmission of haplotypes defined by these polymorphisms. The ACE I/D polymorphism was associated with SLE among non-Caucasians (61% transmission, P = 0.026) and the 23949 (CT)(2/3) polymorphism was associated with LN among non-Caucasians (69% transmission, P = 0.014). Several haplotypes defined by these 2 markers demonstrated strikingly increased transmission among non-Caucasians (81% - 66% transmission, P = 0.0046 to 0.010). Due to the choice of study design and analytic method these results are unlikely to be due to population admixture. Our findings suggest that DNA sequence variation in the ACE gene influences the risk of developing SLE and LN.

Transferrin Receptor-2 (TFR2) Mutation Y250X in Alabama Caucasian and African American Subjects with and without Primary Iron Overload

ABSTRACTMost cases of hemochromatosis are associated with mutations of the HFE gene on Ch6p. In southern Italy and central Alabama, the percentages of patients with hemochromatosis who have “atypical” HFE genotypes (defined as lack of C282Y homozygosity, C282Y/H63D compound heterozygosity, or H63D homozygosity) are relatively great. A mutation of the transferrin receptor-2 gene (TFR2; exon 6, nt 750 C → G, replaces TAC with stop signal TAG; Y250X) on Ch7q22 was recently identified in two Sicilian families with HFE mutation-negative hemochromatosis. We wanted to estimate the frequency of this mutation in persons from central Alabama. We evaluated Caucasian hemochromatosis probands with atypical HFE genotypes and African Americans with primary iron overload. We also studied control Caucasians, including persons of southern Italian/Sicilian heritage, and control African Americans. Analysis of genomic DNA was performed using a PCR–sequence-specific priming assay and positive control specimens from Sicilian hemochromatosis subjects heterozygous and homozygous for Y250X. Among Alabama subjects, this allele was not detected in 113 Caucasians, including 21 hemochromatosis probands with atypical HFE genotypes and 92 normal control subjects (including 27 of southern Italian/Sicilian descent). In African Americans, Y250X was not detected in 20 index cases with primary iron overload or in 274 unrelated control subjects. We conclude that Y250X is uncommon in Caucasians with hemochromatosis associated with atypical HFE genotypes, in African Americans with primary iron overload, and in the general Caucasian and African American population subgroups in central Alabama.

Transferrin saturation phenotype and HFE genotype screening for hemochromatosis and primary iron overload: predictions from a model based on national, racial, and ethnic group composition in central Alabama.

There is interest in general population screening for hemochromatosis and other primary iron overload disorders, although not all persons are at equal risk. We developed a model to estimate the numbers of persons in national, racial, or ethnic population subgroups in Jefferson County, Alabama, who would be detected using transferrin saturation (phenotype) or HFE mutation analysis (genotype) screening. Approximately 62% are Caucasians, 37% are African Americans, and the remainder are Hispanics, Asians, or Native Americans. The predicted phenotype frequencies are greatest in a Caucasian subgroup, ethnicity unspecified, which consists predominantly of persons of Scotch and Irish descent (0.0065 men, 0.0046 women), and in African Americans (0.0089 men, 0.0085 women). Frequencies of the HFE genotype C282Y/C282Y > or = 0.0001 are predicted to occur only among Caucasians; the greatest frequency (0.0080) was predicted to occur in the ethnicity-unspecified Caucasian population. C282Y/C282Y frequency estimates were lower in Italian, Greek, and Jewish subgroups. There is excellent agreement in the numbers of the ethnicity-unspecified Caucasians who would be detected using phenotype and genotype criteria. Our model also indicates that phenotyping would identify more persons with primary iron overload than would genotyping in our Italian Caucasian, Hispanic, and African American subgroups. This is consistent with previous observations that indicate that primary iron overload disorders in persons of southern Italian descent and African Americans are largely attributable to non-HFE alleles. Because the proportions of population subgroups and their genetic constitution may differ significantly in other geographic regions, we suggest that models similar to the present one be constructed to predict optimal screening strategies for primary iron overload disorders.

More Framingham data, more dietary confusion

Previous studies have evaluated the association between FCGR2A H131R (rs1801274) polymorphism and idiopathic (immune) thrombocytopenic purpura (ITP), but results remain inconsistent. This meta-analysis was conducted to clarify these controversies.Literatures on PubMed/ Medline, Embase and CENTRAL databases up to September 2013 were searched by two investigators. The distributions of alleles and genotypes between cases and controls were compared by using odds ratios (ORs) and 95% confidence intervals (95% CIs). Fixed or Random-effects models were used when appropriate.10 studies involving 553 patients and 1088 controls were available for this study, including 7 studies of Caucasian descendents, 2 studies of Asian descendents, and 1 study contained diverse ethnicity. In this studied overall population, we didn’t found any significant association between the FCGR H131R polymorphism and the risk of ITP for all genetic models. But in the subgroup analysis, a significant association between FCGR H131R polymorphism and ITP susceptibility was observed in Caucasian population of childhood-onset group for H vs. R (OR = 1.246, 95% CI 1.021-1.522, p = 0.031), HH vs. HR + RR (OR = 1.562, 95% CI 1.145-2.129, p = 0.005), HH vs. HR (OR = 1.598, 95% CI 1.146-2.228, p = 0.006), HH vs. RR (OR = 1.484, 95% CI 1.005-2.191, p = 0.047). No significantly between-study heterogeneity was observed for all genotype models in Caucasian childhood-onset ITP subtype analysis. However, this association was not stable after sensitivity analysis.Our present meta-analysis indicated that FCGR H131R polymorphism might not be associated with risk of ITP in overall population. However, in Caucasian childhood-onset subgroup, there might be an association between FCGR2A H131R polymorphism and ITP risk, which is not robust and should be explained with caution.

Ethnic variation in the clinical expression of idiopathic torsion dystonia.

Although childhood, limb-onset idiopathic torsion dystonia (ITD) is at increased prevalence among Jews, and Ashkenazi Jews with this form of ITD show linkage disequilibrium for a unique haplotype, little else is known about phenotypic or genetic variation in ITD among ethnic groups. We assessed clinical features in 786 ITD patients and determined the relative frequencies of various clinical forms of ITD in the major ethnic groups. Several differences in age-at-onset and site-at-onset distributions among groups were demonstrated. As expected, Ashkenazi Jews had an earlier age-at-onset distribution than did non-Jewish Caucasians. In the early-onset group, Jews were less likely to have cervical onset and more likely to have onset in the limbs than were non-Jewish Caucasians (p < 0.01). Among late-onset cases, Jews had less cervical onset and more cranial onset than did non-Jewish Caucasians (p < 0.01). African-Americans showed suggestive differences in both age at onset and site at onset as compared with the two caucasian groups, with an intermediate age at onset, a deficit of leg onset, and an excess of cranial and larynx onset. Subgroups of non-Jewish Caucasians showed no significant differences from each other. The observed ethnic variations in age at onset and site at onset of ITD suggest population differences in disease-causing alleles or loci. However, environmental influences on expression of ITD can not be excluded.

Normal variation in size of the FMR1 gene is not associated with variation in intellectual performance

The fragile X mental retardation (FMR1) gene was examined as a potential single-gene candidate for variation in intelligence score, on the basis of its well established relation with mental retardation. The size of the normal FMR1 gene varies across individuals, and is measured by the number of cytosine-guanine-guanine (CGG) repeats of which it is comprised. In this study, the association between IQ score and the number of CGG repeats was examined among 917 school age children, including 455 Caucasian children and 462 African American children. Separate analyses were conducted with the entire sample, with girls and boys examined separately, and with Caucasian and African American subgroups. None of the models revealed a statistically significant association between IQ and number of CGG repeats. The results from this study provide strong evidence that variation in CGG size, among normal size FMR1 alleles, does not account for variation in intelligence.

Oral parafunctions as temporomandibular disorder risk factors in children.

Oral parafunctions are generally considered to be important factors in the etiology of temporomandibular disorders (TMDs) and many reports have been published about their prevalence in adults and schoolchildren. However, few have included significant numbers of children below the age of 7. The aim of this study was to examine the association between parafunctions and oral/facial TMD-related pain in preschool children. Bruxism, nail biting, and thumb sucking were found to be significantly associated with important oral/facial pain symptoms of clinical interest in the diagnoses of TMD indicating that those parafunctions are risk factors. The study included 525 4- to 6-year-old African-American and Caucasian children, mean age 5.1 +/- 0.65 (SD). An alpha level of 5% was chosen for comparison with a Pearson Chi-Square test. Bonferroni correction was made and a p-value of < 0.005 was accepted as significance level. Only 28% of the children had no history of any parafunction. More girls (82%) than boys (63%) in the Caucasian subgroup had at least one parafunction (p approximately 0.00017). No such difference was found in the African-American subgroup where the corresponding figures were 71% for girls and 73% for boys. Thumb sucking was reported by 57% of the children, more often by Caucasian girls (69%) than by Caucasian boys (43%) (p < 0.00001). Thirty percent still had the habit. Forty-one percent had a history of nail biting. Bruxism was noted in 20% of the children, but occurred mostly in combination with other parafunctions and was seldom (in 3.4%) the only parafunction. Of the 10 pain variables, bruxism was significantly associated with eight, thumb sucking with three, and nail biting with two. Analysis with logistic regression confirmed the results. Association does not, however, tell if a parafunction is the cause or the consequence of pain, or if a third factor is causing both pain and increased prevalence of oral parafunctions. Further prospective longitudinal studies including higher age groups are needed to clarify those relations and to determine if there are long-term effects of childhood parafunctions.

Interleukin 1β-511T gene (IL1β) polymorphism is correlated with gastric cancer in the Caucasian population: Results from a meta-analysis

The polymorphisms of interleukin-1beta (IL1beta) genes have been controversially correlated with gastric cancer risk. We examined all the available published studies through a meta-analysis approach. Twenty-one studies assessing the correlation between IL1beta gene polymorphisms and gastric cancer were examined: 15 studies evaluated the role of IL1beta-511T, 12 of IL1beta-31T and 6 investigated both polymorphisms. The IL1beta-511T polymorphism was correlated with an increased risk of developing gastric cancer in the global population (OR of 1.23, 95% CI 1.09-1.37, P=0.0002). The analysis of the population stratified for Caucasian and Asian ethnicities showed that the IL1beta-511T polymorphism was correlated with a statistically significant increased risk of gastric cancer in the Caucasian (OR of 1.56, 95% CI 1.32-1.84, P<0.00001), but not in the Asian population (OR of 1, 95% CI 0.85-1.16, P=0.95). An analysis of patients with the IL1beta-31T genotype did not show an increased risk of developing gastric cancer either on the overall or stratified population. The present data partially agree with the results of the two recently published meta-analyses. Our findings confirm the correlation between the IL1beta-511T allele polymorphism and gastric cancer risk in the overall population. However, this correlation is not statistically significant in the Asian, but is strongly correlated in the Caucasian subgroup. The present analysis considered a more copious sample size of cases after taking into account all the studies published recently by searching the 'PubMed' and 'MEDLINE' databases until July 2007. Hence, the present study contributes to clarify the controversial results on IL1beta polymorphisms and gastric cancer risk correlation evidencing the importance of ethnicity in the generation of the IL1beta polymorphism analysis.

Morphology of the maxillary lateral incisor in cases of unilateral impaction of the maxillary canine.

Two groups of subjects who demonstrated unilateral maxillary canine impaction were examined, a Caucasian group and an Oriental group. It was found that there are significant differences between the groups for sex of patients seeking treatment, site of impaction (buccal/palatal), and arch form. The Oriental group was significantly more crowded in the canine area than the Caucasian group. In almost all cases the dimensions of the lateral incisor on the side of impaction were smaller than the non-impacted side, although five subjects from the Caucasian female sub-group did not conform to this pattern, and for the Oriental male sub-group the mesiodistal crown width was larger on the impacted side.