Populations Of African Origin Research Articles

Diversity of 15 human X chromosome microsatellite loci in Polish population

X-STR analysis is a powerful tool in both phylogeny reconstruction and forensic investigation. Hereby, we provide new population data concerning 15 X-STR loci (included in commercially available typing kit Mentype Argus X-8 (Biotype AG, Dresden, Germany) (DXS10135, DXS8378, DXS7132, DXS10074, HPRTB, DXS10101, DXS10134 and DXS7423) and another seven (DXS6807, DXS9898, DXS101, DXS7424, DXS7133, DXS8377 and DXS10011) that were previously described by Poetsch et al. [1] obtained from a sample of 311 individuals from Poland and compared to the results previously obtained from other populations of European, Asian and African origin [2–4]. Numerous experiments seem to prove that X-STRs are valuable markers for human identification, kinship testing and even phylogenetic research – thus serving as a complement for autosomal microsatellites, Y-STRs and mtDNA [5–7].

Nutrient intakes and dysglycaemia in populations of West African origin

Examining the relationship between glucose intolerance and dietary intake in genetically similar populations with different dietary patterns and rates of type 2 diabetes may provide important insights into the role of diet in the pathogenesis of this disease. The objective of the present study was to assess the relationship between dietary variables and dysglycaemia/type 2 diabetes among three populations of African origin. The study design consists of a cross-sectional study of men and women of African descent aged 24-74 years from Cameroon (n 1790), Jamaica (n 857) and Manchester, UK (n 258) who were not known to have diabetes. Each participant had anthropometric measurements and underwent a 2 h 75 g oral glucose tolerance test. Habitual dietary intake was estimated with quantitative FFQ, developed specifically for each country. The age-adjusted prevalence of undiagnosed type 2 diabetes in Cameroon was low (1·1 %), but it was higher in Jamaica (11·6 %) and the UK (12·6 %). Adjusted generalised linear and latent mixed models used to obtain OR indicated that each 1·0 % increment in energy from protein, total fat and saturated fats significantly increased the odds of type 2 diabetes by 9 (95 % CI 1·02, 1·16) %, 5 (95 % CI, 1·01, 1·08) % and 16 (95 % CI 1·08, 1·25) %, respectively. A 1 % increase in energy from carbohydrates and a 0·1 unit increment in the PUFA:SFA ratio were associated with significantly reduced odds of type 2 diabetes. The results show independent effects of dietary factors on hyperglycaemia in African origin populations. Whether modifying intake of specific macronutrients helps diabetes prevention needs testing in randomised trials.

Prostate cancer incidence and mortality in barbados, west indies.

We describe prostate cancer incidence and mortality in Barbados, West Indies. We ascertained all histologically confirmed cases of prostate cancer during the period July 2002 to December 2008 and reviewed each death registration citing prostate cancer over a 14-year period commencing January 1995. There were 1101 new cases for an incidence rate of 160.4 (95% Confidence Interval: 151.0–170.2) per 100,000 standardized to the US population. Comparable rates in African-American and White American men were 248.2 (95% CI: 246.0–250.5) and 158.0 (95% CI: 157.5–158.6) per 100,000, respectively. Prostate cancer mortality rates in Barbados ranged from 63.2 to 101.6 per 100,000, compared to 51.1 to 78.8 per 100,000 among African Americans. Prostate cancer risks are lower in Caribbean-origin populations than previously believed, while mortality rates appeared to be higher than reported in African-American men. Studies in Caribbean populations may assist understanding of disparities among African-origin populations with shared heredity.

Validation of a quantitative FFQ for the Barbados National Cancer Study

To assess the validity of a 148-item quantitative FFQ (QFFQ) that was developed for the Barbados National Cancer Study (BNCS) to determine dietary intake over 12 months and examine the dietary risk factors. A cross-sectional validation study of the QFFQ against 4 d food diaries. Spearman's rank correlations (ρ), intra-class correlation coefficients (ICC) and weighted κ were computed as measures of concordance, adjusting for daily variations in the food diaries. Cross-classification tables and Bland-Altman plots were created for further assessment. BNCS is a case-control study of environmental risk factors for breast and prostate cancer in a predominantly African-origin population in Barbados. Fifty-four individuals (21 years and older) were recruited among controls in the BNCS who were frequency-matched on sex and age group to breast and prostate cancer cases. Similar mean daily energy intake was derived from the food diary (8201 kJ (1960 kcal)) and QFFQ (7774 kJ (1858 kcal)). Rho for energy and macronutrients ranged from 0·66 (energy) to 0·17 (dietary fibre). The percentage of energy from carbohydrates and protein showed the highest and lowest ICC among macronutrients (0·63 and 0·27, respectively). The highest weighted κ was observed for energy (0·45). When the nutrient intake was divided into quartiles, approximately 34 % of the observations were in the same quartile. This investigation supports the validity of the QFFQ as a method for assessing long-term dietary intake except for dietary fibre, folate, vitamins A, E and B12. The instrument will be a useful tool in the analysis of diet-cancer associations in the BNCS.

African-American inflammatory bowel disease in a Southern U.S. health center

BackgroundInflammatory Bowel Diseases (IBD) remain significant health problems in the US and worldwide. IBD is most often associated with eastern European ancestry, and is less frequently reported in other populations of African origin e.g. African Americans ('AAs'). Whether AAs represent an important population with IBD in the US remains unclear since few studies have investigated IBD in communities with a majority representation of AA patients. The Louisiana State University Health Sciences Center in Shreveport (LSUHSC-S) is a tertiary care medical center, with a patient base composed of 58% AA and 39% Caucasian (W), ideal for evaluating racial (AA vs. W) as well and gender (M vs. F) influences on IBD.MethodsIn this retrospective study, we evaluated 951 visits to LSUHSC-S for IBD (between 2000 to 2008) using non-identified patient information based on ICD-9 medical record coding (Crohn's disease 'CD'-555.0- 555.9 and ulcerative colitis 'UC'-556.0-556.9).ResultsOverall, there were more cases of CD seen than UC. UC and CD affected similar ratios of AA and Caucasian males (M) and females (F) with a rank order of WF > WM > AAF > AAM. Interestingly, in CD, we found that annual visits per person was the highest in AA M (10.7 ± 1.7); significantly higher (* -p < 0.05) than in WM (6.3 ± 1.0). Further, in CD, the female to male (F: M) ratio in AA was significantly higher (*- p < 0.05) (1.9 ± 0.2) than in Caucasians (F:M = 1.3 ± 0.1) suggesting a female dominance in AACD; no differences were seen in UC F: M ratios.ConclusionAlthough Caucasians still represent the greatest fraction of IBD (~64%), AAs with IBD made up >1/3 (36.4%) of annual IBD cases from 2000-2008 at LSUHSC-S. Further studies on genetic and environments risks for IBD risk in AAs are needed to understand differences in presentation and progression in AAs and other 'non-traditional' populations.

P46 Ethnic differences in pace of growth between birth and 5 years: results from the millennium cohort study

ObjectiveSize at birth and accelerated postnatal growth are linked to obesity and cardiovascular disease (CVD) in adulthood. CVD is more common in Black African and South Asian origin populations in...

A cross-national comparative study of smoking prevalence and cessation between English and Dutch South Asian and African origin populations: the role of national context

Evidence suggests that Dutch people smoke substantially more than their British counterparts. These differences have been suggested to relate, in part, to the health-related policy differences between the two countries. It is unclear whether these differences affect smoking among ethnic minority groups in similar ways. We assessed whether the lower smoking prevalence in the U.K. general population compared with the Netherlands is also observed in ethnic minority groups (i.e., Dutch vs. English South Asians and Dutch- vs. English-Africans). We used similar surveys from the United Kingdom and the Netherlands to explore these questions. The response rate ranges from 60% in the Health Survey for England and the SUNSET study to 67.5% in Newcastle Heart Project (n = 21,429). After adjustment for other factors, compared with White-Dutch, the prevalence ratio (PR) of current smoking was lower in White-English men (PR = 0.58, 95% CI: 0.49-0.67) and women (PR = 0.56, 0.49-0.65). Among African groups, compared with Dutch-African, the prevalence of current smoking was lower in English- African Caribbean men (PR = 0.48, 0.31-0.75) and women (PR = 0.47, 0.39-0.69) and Sub-Saharan African men (PR = 0.53, 0.29-0.99) and women (PR = 0.37, 0.14-0.99). Among South Asian groups, compared with Dutch South Asian, the prevalence of smoking was lower in English-Indian men (PR = 0.67, 0.51-0.89) and women (PR = 0.16, 0.07-0.37), Pakistani men (PR = 0.62, 0.46-0.82) and women (PR = 0.13, 0.05-0.33), and Bangladeshi men (PR = 0.77, 0.59-0.99) and women (PR = 0.11, 0.03-0.45). Ever-smoking rates were lower and smoking cessation rates were higher in the English ethnic groups than in the Dutch ethnic groups except for smoking cessation among the South Asian women. Similar to the White group, the prevalence of smoking was lower in South Asian and African men and women in England than their corresponding Dutch counterparts. These differences suggest that, among other factors, antismoking policies might have a similar influence on both ethnic majority and minority groups and illustrate the potential importance of national context on public health policy on ethnic minority groups' smoking behavior.

A Cross-National Comparative Study of Blood Pressure and Hypertension Between English and Dutch South-Asian- and African-Origin Populations: The Role of National Context

We compare patterns of blood pressure (BP) and prevalence of hypertension between white-Dutch and their South-Asian and African minority groups with their corresponding white-English and their South-Asian and African ethnic minority groups; and the contribution of physical activity, body sizes, and socioeconomic position (SEP); and the quality of BP treatment that may underlie differences in mean BP. Secondary analyses of population-based studies of 13,999 participants from the United Kingdom and the Netherlands. Compared with Dutch South-Asians, all English South-Asian men and women had lower BP and prevalence of hypertension except for systolic BP in English-Indian men. Among Africans, the systolic BP did not differ, but the diastolic BP levels were lower in English-Caribbean and English- (sub-Sahara) African men and women than in their Dutch-African counterparts. English-Caribbeans had a lower prevalence of hypertension than Dutch-Africans. Compared with white-Dutch, white-English men and women had higher systolic BP levels, but lower diastolic BP levels. There were no differences in the prevalence of hypertension between the white groups. Most differences remained unchanged after adjustment for SEP, lifestyle, and body sizes in all ethnic groups. BP control rates were substantially lower among Dutch-African and Dutch South-Asian hypertensives than among their English counterparts (except Indians). We found marked variations in BP and hypertension prevalence between comparable ethnic groups in England and the Netherlands. Poor BP control among Dutch South-Asians and Africans contributed to their disadvantage of the relatively high BP levels.

Angry White Men: Individual and Contextual Predictors of Support for the British National Party

The British National party (BNP) is the most successful extreme right party in Britain's electoral history and is the fastest growing political party in twenty-first century Britain. This article presents the first ever individual-level analysis of BNP supporters, utilising a survey data set uniquely compiled for this purpose. We find that support for the BNP is concentrated among older, less educated working-class men living in the declining industrial towns of the North and Midlands regions. This pattern of support is quite distinct from that which underpinned the last electorally relevant extreme right party in Britain – the National Front (NF) – whose base was young working-class men in Greater London and the West Midlands. Extreme right voters in contemporary Britain express exceptionally high levels of anxiety about immigration and disaffection with the mainstream political parties. Multi-level analysis of BNP support shows that the party prospers in areas with low education levels and large Muslim minority populations of Pakistani or African origin. The BNP has succeeded in mobilising a clearly defined support base: middle-aged working-class white men anxious about immigration, threatened by local Muslim communities and hostile to the existing political establishment. We conclude by noting that all the factors underpinning the BNP's emergence – high immigration levels, rising perceptions of identity conflict and the declining strength of the cultural and institutional ties binding voters to the main parties – are likely to persist in the coming years. The BNP therefore looks likely to consolidate itself as a persistent feature of the British political landscape.

Race, Medicine, and the Science behind BiDil: How ACE-Inhibition Took the Fall for the First Ethnic Drug

A substantial biomedical literature has accumulated around the question of racial differences in the response to treatment with angiotensin converting enzyme (ACE) inhibitors for hypertension and congestive heart failure. African-origin populations are often asserted to be “low renin”, and therefore to have blunted response to agents that interfere with the renin-angiotensin system. Although the US Food and Drug Administration (FDA) rejected a combination of hydralazine and isosorbide dinitrate as a general heart failure treatment in 1997, this literature on Black resistance to ACE-inhibition therapy for heart failure was used to argue for a race-specific approval for this drug. Specifically, a paper by Exner and colleagues published in the New England Journal of Medicine in 2001 reported that ACE-inhibition reduced hospitalization for White patients, but not for Black patients. The Exner et al paper was used to argue for conducting a randomized trial in Black patients only, the successful completion of which led to FDA approval of the hydralazine and isosorbide dinitrate combination (known as BiDil) as a race-specific therapy in 2005. We re-analyze the data in the 2001 Exner et al study, and show that it is not well suited for answering the question of differential response by race. Even so, the published analysis ignored important facets of the data in order to arrive at the stated conclusion of a race-specific response. Black subjects were recruited mostly in a few regions, and were medically distinct from white patients in terms of clinical measures such as hypertension, diabetes and prescription drug history. Overall, Black subjects had a high risk of the outcomes, and the effect of treatment varied widely by clinical center or by region. The stated conclusion by Exner et al of a race-specific response to ACE inhibition is therefore suspect, as is the use of this conclusion to support the notion of race-specific therapies, both in the specific case of BiDil and in general.

A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene

BackgroundTwo types of cerumen occur in humans: the wet type with brownish, sticky earwax, and the dry type with a lack of or reduced ceruminous secretion. The wet type is common in populations of European and African origin, while the dry type is frequently seen in Eastern Asian populations. An association between axillary odor and the wet-type earwax was first identified approximately 70 years ago. The data were based on a phenotypical analysis of the two phenotypes among the Japanese by a researcher or by self-declaration of the subjects examined, and were not obtained using definite diagnostic methods. Recently, we identified a single-nucleotide polymorphism (SNP; rs17822931) of the ABCC11 gene as the determinant of the earwax types. In the present study, to determine whether the SNP can serve as a diagnostic marker for axillary osmidrosis (AO), we examined genotypes at rs17822931 in 79 Japanese AO individuals. AO was defined here as a clinical condition of individuals with a deep anxiety regarding axillary odor and had undergone the removal of bilateral axillary apocrine glands.ResultsA comparison of the frequencies of genotypes at rs17822931 in the 79 AO individuals and in 161 Japanese from the general population showed that AO was strongly associated with the wet earwax genotype. A total of 78 (98.7%) of 79 AO patients had either the GG or GA genotype, while these genotypes were observed in 35.4% (57/161) of the subjects from the general population (p < 1.1 × 10-24, by Fisher's exact test).ConclusionThe strong association between the wet-earwax associated ABCC11-genotypes (GG and GA) and AO identified in this study indicates that the genotypes are good markers for the diagnosis of AO. In addition, these results suggest that having the allele G is a prerequisite for the axillary odor expression. In other words, the ABCC11 protein may play a role in the excretory function of the axillary apocrine gland. Together, these results suggest that when an AO individual visiting a hospital is diagnosed with dry-type earwax by ABCC11-genotyping, surgical removal of their axillary glands may not be indicated.

Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients.

Fetal haemoglobin (HbF) is a major ameliorating factor in sickle cell disease. We investigated if a quantitative trait locus on chromosome 6q23 was significantly associated with HbF and F cell levels in individuals of African descent. Single nucleotide polymorphisms (SNPs) in a 24-kb intergenic region, 33-kb upstream of the HBS1L gene and 80-kb upstream of the MYB gene, were typed in 177 healthy Afro-Caribbean subjects (AC) of approximately 7% European admixture, 631 healthy Afro-Germans (AG, a group of African and German descendents located in rural Jamaica with about 20% European admixture), 87 West African and Afro-Caribbean individuals with sickle cell anaemia (HbSS), as well as 75 Northern Europeans, which served as a contrasting population. Association with a tag SNP for the locus was detected in all four groups (AC, P = 0.005, AG, P = 0.002, HbSS patients, P = 0.019, Europeans, P = 1.5×10−7). The association signal varied across the interval in the African-descended groups, while it is more uniform in Europeans. The 6q QTL for HbF traits is present in populations of African origin and is also acting in sickle cell anaemia patients. We have started to distinguish effects originating from European and African ancestral populations in our admixed study populations.

Breast cancer incidence and mortality in a Caribbean population: Comparisons with African‐Americans

We describe breast cancer incidence and mortality in the predominantly African-origin population of Barbados, which shares an ancestral origin with African-Americans. Age-standardized incidence rates were calculated from histologically confirmed breast cancer cases identified during a 45-month period (July 2002-March 2006). Mortality rates were estimated from death registrations over 10-years starting January 1995. There were 396 incident cases of breast cancer for an incidence rate of 78.1 (95% confidence interval (CI) 70.5-86.3), standardized to the US population. Breast cancer incidence in African-Americans between 2000 and 2004 was 143.7 (142.0-145.5) per 100,000. Incidence peaked at 226.6 (174.5-289.4) per 100,000 among Barbadian women aged 50-54 years, and declined thereafter, a pattern in marked contrast to trends in African-American women, whose rates continued to increase to a peak of 483.5 per 100,000 in those aged 75-79 years. Incidence rate ratios comparing Barbadian and African-American women showed no statistically significant differences among women aged>or=55 years (p<or=0.001 at all older ages). The age-standardized mortality rate in Barbados was 32.9 (29.9-36.0) per 100,000; similar to reported US rates. The pattern of diverging breast cancer incidence between Barbadian and African-American women may suggest a greater contribution from genetic factors in younger women, and from environmental factors in older women. Studies in intermediate risk populations, such as Barbados, may assist the understanding of racial disparities in breast cancer.

Body size and breast cancer in a black population--the Barbados National Cancer Study.

To evaluate the relationship between body size and incident breast cancer in an African-origin Caribbean population. This investigation is based on 222 incident breast cancer cases and 454 controls from the Barbados National Cancer Study (BNCS) in whom body size variables that included height, weight, body-mass index (BMI), waist and hip circumferences (WC, HC), and waist-hip ratio (WHR) were compared. Multivariate-adjusted logistic regression analyses were performed and the findings are presented as odds ratios (ORs) with 95% confidence intervals (CI). Although 33% of cases and 39% of controls were obese (BMI > or = 30 kg/m(2)), BMI was not found to be a significant predictor of breast cancer in the multivariate analyses. Tall stature increased risk among women > or =50 years (OR = 2.16, 95% CI (1.02, 4.58)), and a dual effect with age was suggested for both WC and WHR (decreased risk for those aged < or =50 years; increased risk among those > or =50 years). Body size appears to influence the risk of breast cancer in this population of African origin. The BNCS data suggest that a few, but not all body size factors play a role in breast cancer risk, and that age may affect these relationships.

Risk factors for breast cancer in a black population--the Barbados National Cancer Study.

The Barbados National Cancer Study (BNCS) is a nationwide case-control study investigating environmental and genetic factors for breast cancer (BC) in a predominantly African-origin population with similar ancestry as African-Americans. This report evaluates associations of incident BC in the BNCS to various factors, including demographic, anthropometric, reproductive and family history variables, not investigated previously in this population. The BNCS included 241 incident BC cases and 481 age-matched female controls, with mean ages of 57 and 56 years, respectively. In addition to a reported family history of BC in a close relative [odds ratios (OR) = 3.74, 95% CI (1.41, 9.90) in a parent; OR = 3.26 (1.47, 7.21) in a sibling], other factors associated with BC were older age at first full-term pregnancy [OR = 1.04 (1.00, 1.07)] and having a history of benign breast disease [OR = 1.88 (1.19, 2.99)]. Increased parity reduced the risk of BC [OR = 0.34 (0.15, 0.77) among those with >or=3 children]. The reproductive patterns of African-Barbadian (AB) women tended to differ from those of African-American (AA) women (later age of menarche, earlier age at first pregnancy, higher frequency of lactation and infrequent use of exogenous hormones) and could help to explain their considerably lower postmenopausal incidence of BC. The relationship between reported family history and BC, combined with the associations noted for several reproductive and other variables, supports the genetic and environmental contributions to BC, which may vary in populations across the African diaspora. Further investigations of other populations may clarify these issues.

Prevalence of diabetes mellitus and the performance of a risk score among Hindustani Surinamese, African Surinamese and ethnic Dutch: a cross-sectional population-based study

BackgroundWhile the prevalence of type 2 diabetes mellitus (DM) is high, tailored risk scores for screening among South Asian and African origin populations are lacking. The aim of this study was, first, to compare the prevalence of (known and newly detected) DM among Hindustani Surinamese, African Surinamese and ethnic Dutch (Dutch). Second, to develop a new risk score for DM. Third, to evaluate the performance of the risk score and to compare it to criteria derived from current guidelines.MethodsWe conducted a cross-sectional population based study among 336 Hindustani Surinamese, 593 African Surinamese and 486 Dutch, aged 35–60 years, in Amsterdam. Logistic regressing analyses were used to derive a risk score based on non-invasively determined characteristics. The diagnostic accuracy was assessed by the area under the Receiver-Operator Characteristic curve (AUC).ResultsHindustani Surinamese had the highest prevalence of DM, followed by African Surinamese and Dutch: 16.7, 8.1, 4.2% (age 35–44) and 35.0, 19.0, 8.2% (age 45–60), respectively. The risk score included ethnicity, body mass index, waist circumference, resting heart rate, first-degree relative with DM, hypertension and history of cardiovascular disease. Selection based on age alone showed the lowest AUC: between 0.57–0.62. The AUC of our score (0.74–0.80) was higher than that of criteria from guidelines based solely on age and BMI and as high as criteria that required invasive specimen collection.ConclusionIn Hindustani Surinamese and African Surinamese populations, screening for DM should not be limited to those over 45 years, as is advocated in several guidelines. If selective screening is indicated, our ethnicity based risk score performs well as a screening test for DM among these groups, particularly compared to the criteria based on age and/or body mass index derived from current guidelines.

The Relationship of Body Mass Index and Waist-Hip Ratio on the 9-Year Incidence of Diabetes and Hypertension in a Predominantly African-origin Population

To provide 9-year incidence data for diabetes and hypertension and evaluate the relationship of body mass index (BMI) and waist-hip ratio (WHR) on these comorbidities in an African Caribbean population. This was a longitudinal, population-based cohort study, including 4,631 participants at baseline; 2,793 were reexamined at the 9-year follow-up. Diabetes was defined by self-reported history and/or glycosylated hemoglobin measurement; hypertension was defined as systolic blood pressure (BP) >or=140 mm Hg and/or diastolic BP >or=90 mm Hg and/or use of antihypertensive treatment. Incidence rates were based on persons without such conditions at baseline. The 9-year incidence of hypertension (95% confidence interval) was higher in women (37.5% [34.0-41.2]) than men (30.6% [26.9-34.6]), whereas the incidence of diabetes was similar for both genders (14%). Body size was related to both conditions; however, the incidence of hypertension was more strongly associated with WHR, whereas diabetes had a stronger association with BMI. Incidence rates for diabetes and hypertension were high in this cohort, and the relationship of BMI and WHR on these comorbidities was significant. These findings suggest the need to develop tailored interventions and preventive strategies in this African Caribbean and similar high-risk populations.

Cytogenetic abnormalities in Tunisian de novo myelodysplastic syndrome: A comparison with other populations

Cytogenetic analysis was performed on 224 bone marrow (BM) of Tunisian patients with de novo myelodysplastic syndrome (MDS) at our institution from January 1993 to December 2006. According to French–American–British (FAB) criteria, there were 36% of patients with refractory anaemia (RA), 26% with refractory anaemia with excess of blasts (RAEB), 10% with refractory anaemia with ringed sideroblasts (RARS), 12% with chronic myelomonocytic leukaemia (CMML), 9% refractory anaemia with excess of blasts in transformation (RAEB-t) and 7% of unclassified MDS. A clonal chromosomal abnormality was observed in 51% of the patients. The most frequent karyotypic change was 5q− in 30 cases (13%), followed by −7/7q− in 17 cases (8%), del(12p) in 8 cases (4%), del(20q) and trisomy 8 in 7 cases each (3%), i(17q) in 2 cases (1%) and −y in only one case (0.4%). This is the first large comparative series of MDS from an Arab country, with cytogenetic analysis showing haematological and cytogenetic features similar to those of MDS population of European or mixed European-subsaharian African origin (like Brazil), but different from those seen in Eastern populations.

Genetic Variants of Y Chromosome Are Associated With a Protective Lipid Profile in Black Men

Gender and ethnicity modulate the phenotypic expression of cardiovascular risk factors. In particular, men are at higher risk of developing cardiovascular diseases compared to women, whereas black populations of African origin display reduced mortality from coronary heart disease (CHD) as compared to both whites and South Asians. Because the male-specific region (MSY) of the human Y chromosome is an obvious candidate for gender-related differences in the development of cardiovascular diseases, we aimed to identify genetic variants of MSY influencing cardiovascular risk profile in different ethnic groups. We genotyped 4 polymorphisms of MSY (HindIII+/-, rs768983 of TBL1Y, rs3212292 of USP9Y, and rs9341273 of UTY genes) in 579 men of different ethnic groups (blacks, South Asians, and whites) from UK and in 301 whites in Italy. We found that the TBL1Y(A) USP9Y(A) haplotype, present only in blacks in whom it represents the most frequent allelic combinations (AA: n=125; all other combinations: n=45), was associated with lower levels of triglycerides (P=0.025) and higher levels of HDL-cholesterol (P=0.005) as compared to the other haplotypes. The TBL1Y(A) USP9Y(A) haplotype of the Y chromosome, present only in black people of African origin, attributes a favorable lipoprotein pattern, likely to contribute to their reduced susceptibility to coronary heart disease.

Cost–Effectiveness of UGT1A1 Genotyping in Second-Line, High-Dose, Once Every 3 Weeks Irinotecan Monotherapy Treatment of Colorectal Cancer

The aim of the present study was to evaluate the cost-effectiveness of UGT1A1 genotyping in second-line, high-dose, once every 3 weeks irinotecan monotherapy treatment of colorectal cancer. Standard therapy was compared with alternative strategies based on UGT1A1 genotyping from the US healthcare payer perspective. Two alternative strategies (dose reduction and prophylactic use of G-CSF with prior genotyping) and standard therapy were evaluated in a decision analysis, whereas alternative regimens were considered in discussion. The effectiveness outcome was severe neutropenia occurrence and number of life-years gained. Genotyping in combination with a subsequent reduction of initial irinotecan dose for UGT1A1 7/7 genotype patients was cost-saving for the population of African and Caucasian origin. By contrast, UGT1A1 genotyping was not cost effective for the population of Asian ancestry. Furthermore, the prophylactic use of G-CSFs in UGT1A1 7/7 genotype patients was not cost effective in any population group. Finally, the application of a 3-weekly high-dose treatment regimen with a 20% reduced dosage compared with the low-dose weekly irinotecan regimen in patients with UGT1A1 7/7 genotype was less expensive and is more convenient for the patient.