An anatomical analysis of liver volume and quality by ethnicity in a New Zealand population.

BACKGROUND: Post-hepatectomy liver failure is a major cause of mortality, where future liver remnant (FLR) is the key controllable factor. Recommended minimum FLR is influenced by quality of liver parenchyma. Historical research has often failed to include Maori and Pacific Island (PI) populations despite worse health outcomes. Liver analysis by ethnicity is one such example of this. The aims were to determine digital FLR for various anatomical hepatectomies, investigate any correlations between computed tomography (CT) hepatic textural analysis and body mass index (BMI); and assess the variance of these relationships for different ethnicities. METHOD: One hundred and fifty-one patients who underwent abdominal CT scans at Burwood Hospital, Christchurch were retrospectively analysed. Maori and PI patients were selectively recruited to represent New Zealand's diversity. Liver volumetry, segmental ratio, and intra-hepatic fat deposits (IHFD) per ethnicity were examined. RESULTS: Median age of the cohort was 66 (19-95) and 75 (50%) were males. 68%, 23% and 9% patients identified as being European, Maori/PI and Asian, respectively. No statistically significant difference in volume or segment/total volume ratio were noted across different ethnicities. Obese patients had higher IHFD compared with overweight and normal BMI groups. When stratified across ethnic groups, higher IHFD were observed in Asian compared with Maori/PI populations, despite lower BMI. CONCLUSION: No significant variances in liver volumetry were found across different ethnic groups in New Zealand. However association between BMI and IHFD varied across different ethnic cohorts. Consequently, knowledge of liver volumetry is not enough; patient liver quality and ethnicity should considered for hepatic-surgery planning.

Unraveling the complexity of human brain: Structure, function in healthy and disease states.

The human brain stands as an intricate organ, embodying a nexus of structure, function, development, and diversity. This review delves into the multifaceted landscape of the brain, spanning its anatomical intricacies, diverse functional capacities, dynamic developmental trajectories, and inherent variability across individuals. The dynamic process of brain development, from early embryonic stages to adulthood, highlights the nuanced changes that occur throughout the lifespan. The brain, a remarkably complex organ, is composed of various anatomical regions, each contributing uniquely to its overall functionality. Through an exploration of neuroanatomy, neurophysiology, and electrophysiology, this review elucidates how different brain structures interact to support a wide array of cognitive processes, sensory perception, motor control, and emotional regulation. Moreover, it addresses the impact of age, sex, and ethnic background on brain structure and function, and gender differences profoundly influence the onset, progression, and manifestation of brain disorders shaped by genetic, hormonal, environmental, and social factors. Delving into the complexities of the human brain, it investigates how variations in anatomical configuration correspond to diverse functional capacities across individuals. Furthermore, it examines the impact of neurodegenerative diseases on the structural and functional integrity of the brain. Specifically, our article explores the pathological processes underlying neurodegenerative diseases, such as Alzheimer's, Parkinson's, and Huntington's diseases, shedding light on the structural alterations and functional impairments that accompany these conditions. We will also explore the current research trends in neurodegenerative diseases and identify the existing gaps in the literature. Overall, this article deepens our understanding of the fundamental principles governing brain structure and function and paves the way for a deeper understanding of individual differences and tailored approaches in neuroscience and clinical practice-additionally, a comprehensive understanding of structural and functional changes that manifest in neurodegenerative diseases.

The hypothetical molecular mechanism of the ethnic variations in the manifestation of age-related macular degeneration; focuses on the functions of the most significant susceptibility genes.

Age-related macular degeneration (AMD) is the leading sight-threatening disease in developed countries. On the other hand, recent studies indicated an ethnic variation in the phenotype of AMD. For example, several reports demonstrated that the incidence of drusen in AMD patients is less in Asians compared to Caucasians though the reason has not been clarified yet. In the last decades, several genome association studies have disclosed many susceptible genes of AMD and revealed that the association strength of some genes was different among races and AMD phenotypes. In this review article, the essential findings of the clinical studies and genome association studies for the most significant genes CFH and ARMS2/HTRA1 in AMD of different races are summarized, and theoretical hypotheses about the molecular mechanisms underlying the ethnic variation in the AMD manifestation mainly focused on those genes between Caucasians and Asians are discussed.

From genes to drugs: CYP2C19 and pharmacogenetics in clinical practice.

The CYP2C19 gene is frequently included in different pharmacogenomic panels tested in clinical practice, due to its involvement in the metabolism of a myriad of frequently prescribed medications. Accordingly, CYP2C19 genotyping can promote precise therapeutic decisions and avoid the occurrence of significant drug-drug-gene interactions in the clinical setting. A comprehensive examination of the role of the CYP2C19 gene in real-world medical settings is presented in this review. This review summarizes the most recent information on how genetic variants in CYP2C19 affect drug metabolism and therapeutic outcomes. It goes into the wide range of CYP2C19 phenotypes, with different degrees of metabolizing activity, and their implications for customized medication response through a review of the literature. The review also analyzes the clinical significance of CYP2C19 in several medical specialties, including cardiology, psychiatry, and gastro-enterology clinics, and illuminates how it affects pharmacological efficacy, safety, and adverse effects. Finally, CYP2C19-supported clinical decision-making is outlined, highlighting the possibility of improving therapeutic outcomes and achieving more affordable treatment options, a step towards optimizing healthcare provision through precision medicine.

Clinical outcomes of chemotherapy in cancer patients with different ethnicities.

BACKGROUND: Choosing the most effective chemotherapeutic agent with safest side effect profile is a common challenge in cancer treatment. Although there are standardized chemotherapy protocols in place, protocol changes made after extensive clinical trials demonstrate significant improvement in the efficacy and tolerability of certain drugs. The pharmacokinetics, pharmacodynamics, and tolerance of anti-cancer medications are all highly individualized. A driving force behind these differences lies within a person's genetic makeup. RECENT FINDINGS: Pharmacogenomics, the study of how an individual's genes impact the processing and action of a drug, can optimize drug responsiveness and reduce toxicities by creating a customized medication regimen. However, these differences are rarely considered in the initial determination of standardized chemotherapeutic protocols and treatment algorithms. Because pharmacoethnicity is influenced by both genetic and nongenetic variables, clinical data highlighting disparities in the frequency of polymorphisms between different ethnicities is steadily growing.  Recent data suggests that ethnic variations in the expression of allelic variants may result in different pharmacokinetic properties of the anti-cancer medication. In this article, the clinical outcomes of various chemotherapy classes in patients of different ethnicities were reviewed. CONCLUSION: Genetic and nongenetic variables contribute to the interindividual variability in response to chemotherapeutic drugs. Considering pharmacoethnicity in the initial determination of standard chemotherapeutic protocols and treatment algorithms can lead to better clinical outcomes of patients of different ethnicities.

Racial and Ethnic Variation in COVID-19 Vaccination Uptake Among Medicare Beneficiaries with Cancer History.

BACKGROUND: The purpose of this study was to estimate COVID-19 vaccination rate among Medicare beneficiaries with cancer history and determine whether COVID-19 vaccine uptake is higher among non-Hispanic White beneficiaries compared with racially and ethnically minoritized beneficiaries. METHODS: We used US representative, cross-sectional data from the Medicare Current Beneficiary Survey COVID-19 Winter 2021 Rapid Response Community Supplement Survey. A total of 1,863 respondents with self-reported cancer history (other than skin cancer) were included. The outcome was self-reported receipt of at least one coronavirus vaccine dose since vaccines became available. The key independent variable of interest was self-reported race and ethnicity. We applied sample weights to account for the survey design and provide population estimates to 9.6 million beneficiaries with cancer history. Weighted descriptive statistics and multivariable logistic regression analyses were conducted. RESULTS: During the first 4 months of vaccine availability, 69.6% of beneficiaries received at least one vaccine dose of which 65.4% had two vaccine doses. A larger proportion of non-Hispanic White beneficiaries (71.9%) had at least one vaccine dose compared with non-Hispanic Black (60.4%) and Hispanic (57.4%) beneficiaries. An estimated 30.4% of beneficiaries were still unvaccinated, that represents approximately 2.9 million unvaccinated beneficiaries with cancer history. Hispanic beneficiaries were 42% (OR: 0.58; 95% CI: 0.33-0.99; p = .048) less likely to be vaccinated compared with non-Hispanic White beneficiaries. CONCLUSIONS: Results indicate racial and ethnic differences in vaccine uptake among Medicare beneficiaries with cancer history. Effective strategies are needed to help increase vaccine confidence and uptake among adults with cancer history.

Diversify Your Emotional Assets: The Association Between the Variety of Sources of Emotional Support and Thoughts of Death or Self-harm Among US Older Adults.

Using data from a nationally representative sample of community-dwelling older adults (age ≥ 65) (NHANES: n = 3,114), we examined the association between the variety in sources of emotional support and thoughts of death or self-harm in the past two weeks among US older adults and if such association is modified by gender and race/ethnicity. Overall, an additional category of source of emotional support was associated with the 0.36-fold lower odds of endorsing thoughts of death or self-harm in the past two weeks (WAOR: 0.64, 95% CI: 0.46-0.89), after controlling for demographic, socioeconomic, and health-related characteristics. The magnitudes of such association varied across different gender and racial/ethnic subgroups. While among older women and non-Hispanic Black older men, increase in the variety of sources of emotional support was associated with decrease in the odds of endorsing thoughts of death or self-harm in the past two weeks, for non-Hispanic White older men and Hispanic older men, increase in the variety of sources of emotional support was associated with increase in the odds of endorsing thoughts of death or self-harm in the past two weeks. Our findings highlight the importance of considering gender and race/ethnicity when designing and implementing successful interventions for reducing suicide ideation among diverse elderly persons.

Prevalence of diabetic retinopathy in self-reported diabetics among various ethnic groups and associated risk factors in North-East India: A hospital-based study.

PURPOSE: To describe the prevalence and severity of diabetic retinopathy (DR) among different ethnic groups of North-East India and to study the associated risk factors. METHODS: In this hospital based cross sectional study 7,133 individuals among the age group of 20-79 years, attending the OPD, were screened for presence of Diabetes Mellitus (DM) (HbA1c >7% or previously diagnosed). Among them, 780 (10.94%) had diabetes; they were evaluated for presence of any retinopathy (based on fundus photograph and fluorescein angiography), its grade (based on International DR severity scale), and risk factors. DR patients were further grouped into different ethnicities (Assamese, Bengali, minor tribes, and other immigrants). RESULTS: Of the 780 patients with diabetes, 58 patients had type 1 DM and 722 patients had type 2 DM. The overall prevalence of DR was 30.0% with vision-threatening retinopathy and maculopathy being 10.00% and 4.49%, respectively. The prevalence of retinopathy range was the highest in the immigrants' group (50.00% among type 1 DM and 44.93% among type 2 DM) and lowest in the tribal's groups (16.67% among type 1 DM and 22.35% among type 2 DM). The risk factors showing significant association with DR were longer diabetes duration, older age, family history of diabetes, higher HbA1c level, associated hypertension, hypertriglyceridemia, and pregnancy state (P value <0.05). CONCLUSION: Every third patient with diabetes had some form of DR with Vision Threatening DR (VTDR) affecting every tenth patient. There was also a wide variation in the prevalence of DR among ethnic groups and this difference could not be attributed to variation in the known measurable risk factors among different ethnic groups, thus signifying the role of ethnicity in occurrence and severity of DR.

The Absence of Mutations in the Exon 2 KRAS Gene in Several Ethnic Groups in North Sumatra May Not the Main Factor for Lung Cancer.

BACKGROUND: Rat Sarcoma (RAS) protein encoded Guanosine Triphosphate (GTP-ase) activity, known as a switch of cell proliferation. The mutation of this protein alters the early stage of carcinogenesis and along with the interaction with other oncogene drivers and environmental factors affect the clinical characteristics and prognosis in cancer patients, particularly lung cancer. OBJECTIVE: This study aims to determine the Kristen Rat Sarcoma (KRAS) mutation in lung cancer patients in North Sumatera and evaluate factors that might contribute in the development of lung cancer in the absence of KRAS mutation. METHODS: This was a retrospective cohort study enrolled 44 subjects age > 18 year with the diagnosis of lung cancer. Histopathology preparation was obtained from surgery, bronchoscopy, and percutaneus needle biopsy then formed as paraffin-block. KRAS mutation was analyzed using Polymerase Chain Reaction (PCR) method with specific primer of exon 2 for evaluating the expression of RAS protein then continued with Sanger Sequencing Method at 12th and 13th codon. RESULTS: The majority of subjects were male, age > 40 years old, bataknese, heavy smoker, with Adenocarcinoma. Almost all the subjects showed the expression of exon 2 of RAS protein in PCR examinations. However, Sequencing analysis using Bioedit Software, BLASTs and Finch T showed GGT GGC as protein base 219-224 which represented 12th and 13th Codon 12 and 13. The results interpreted there was no mutations of exon 2 of KRAS in North Sumatera Population. CONCLUSION: The absence of KRAS mutation in exon 2 in several ethnics in North Sumatera populations was not the main factors of lung cancer.

The Homogenization of Ethnic Differences in Singapore English? A Consonantal Production Study.

Past research on Singapore English (SgE) has shown that there are specific segmental and prosodic patterns that are unique to the three major ethnic groups, Chinese, Malay, and Indian in Singapore. These features have been highlighted as the "stereotypical" ethnic markers of SgE speakers, assuming substrate influence from the speakers' "ethnic" languages (Mandarin, Malay, and Tamil). However, recent research suggests that Singaporeans are becoming increasingly English dominant and has challenged the position of the ethnic languages as true "mother tongues" of Singaporeans. Hence, this study seeks to question if such "stereotypical" ethnic features exist, and if so, the extent to which a less dominant ethnic language would affect the phonology of speakers' English. This study looks specifically at the production of consonants /f/, /θ/, /t/, /v/, and /w/ as salient segmental features in SgE. Participants' phonetic behavior of /θ/, which was produced similarly across the three ethnic groups, disputed substrate influence. Tamil speakers were the most disparate, particularly with the /v/-/w/ contrast production. However, these deviations were often sporadic phonetic changes, which scarcely reflect robust speech patterns in the community. As a result, consonantal production in SgE is found to be largely independent of substrate influence and relatively uniform across the three ethnicities. The homogeneity observed in this study sheds light on bilinguals' acquisition of sounds, and it also provides phonological evidence toward the understanding of the evolutionary process of postcolonial Englishes.

Genetic variability of human angiotensin-converting enzyme 2 (hACE2) among various ethnic populations.

BACKGROUND: There appears to be large regional variation for susceptibility, severity, and mortality for COVID-19 infections. Numerous potential factors could explain the wide variability in the number of infections and death among the countries. We examined genetic differences in the human angiotensin-converting enzyme 2 (hACE2) gene, as its receptor serves as a cellular entry for SARS-CoV-2. At present, there is a paucity of data regarding the differences for ACE2 polymorphisms and expression levels between ethnicities. METHODS: We compared the allele frequency of mutations between European and East Asians. Molecular dynamic simulation were performed to investigate the influences of significant mutant on protein structure. The binding free energies were calculated between S protein and hACE2. We also examined hACE2 gene expression in eight global populations from HapMap3. RESULTS: Four missense mutations showed significant minor allele frequency difference between Asians and Caucasians. Molecular dynamic demonstrated that two of these variants (K26R and I468V) may affect binding characteristics between S protein of the virus and hACE2 receptor. We also noted marginal differences in gene expression for some populations in HapMap3 as compared to the Chinese population. CONCLUSION: Our studies reveal subtle changes in the genetics of hACE2 between human populations, but the magnitude of the difference was small and the significance is not clear in the absence of further in vitro and functional studies.

Pectoralis Minor Index: Does Ethnicity Hold Relevance? Estimation of Pectoralis Minor Length in the Indian Population and Its Correlation with Hand Length.

OBJECTIVE: Pectoralis Minor Index (PMI) is a proposed parameter to evaluate the pectoralis minor length (PML), eliminating the effect of subject's variability of height. Neither a PMI standard value nor any cutoff value to label a shortened pectoralis minor (PM) has been accepted yet, which can be applied to every individual. Moreover, the length of the PM has never been correlated to any fixed reference in the body. Hence, we estimated the PML in the Indian population and investigated its correlation to the individual's hand length. METHODOLOGY: A cross-sectional study was conducted including 100 adult subjects without any shoulder pathology. Subjects with history of fracture/treatment involving upper limb/spine were excluded. Two assessors evaluated the height, PM length and hand length of subjects. PMI and hand correlation was evaluated using their mean values. RESULTS: Mean PML and PMI for dominant and non-dominant shoulder were calculated to be 18.11/18.21 cm and 10.53/10.59, respectively. Mean hand length of dominant and non-dominant hand was found to be 18.27 cm and 18.31 cm, respectively. Pearson correlation coefficient between right/left PML with right/left hand length was 0.67 and 0.63, respectively, suggesting a good correlation (p < 0.01). CONCLUSIONS: PMI varies in different ethnic groups, which makes PMI a less reliable indicator for managing shoulder pain in ethnic groups where reference values are yet not available. Contralateral PMI can be used as a reference value in unilateral shoulder pathologies with short PML. Hand length can become an important parameter in evaluating painful shoulders even in bilateral pathologies. Hand length can be used as an easy and quick technique to compare the PML and effect of physiotherapy in patients with diagnosis of short PML, attending follow-up OPD. Though, a study comparing PML of normal subjects and patients with shoulder pain will be further required in different ethnic groups for further validation of this study.

Parkinson's disease across ethnicities: A nationwide study in New Zealand.

BACKGROUND: New Zealand is an ethnically diverse country with a unified national prescribing system. This provides a good framework to use drug-tracing methodology to establish the prevalence and incidence of Parkinson's disease across different ethnic groups. The objective of this study was to determine the prevalence and incidence of Parkinson's disease in the major ethnic groups in New Zealand. METHODS: Information on Parkinson's disease-related medications was extracted from the national Pharmaceutical Collection of community-dispensed medications for the period January 1, 2005, to December 31, 2014. Diagnoses for a large subset of individuals were independently determined through national mortality and hospital admissions data sets. We used a Bayesian model, accommodating uncertainty and bias, to estimate the number of people with Parkinson's disease. RESULTS: We found the highest rate of Parkinson's disease in the European ethnic group and the lowest rate in the indigenous Maori. The 2006-2013 age-standardized incidence (per 100,000 population per year) was European, 33; Asian, 28; Pasifika, 27; Maori, 20. The 2013 age-standardized prevalence (per 100,000 population) was European, 223; Asian, 174; Pasifika, 160; Maori, 114. CONCLUSIONS: There is a differential occurrence of Parkinson's disease across the major ethnic groups within the New Zealand population, with indigenous Maori showing the lowest incidence. Varying susceptibility profiles, gene-environment interactions, and inequalities in accessing health care may play a role in the variation in rates of Parkinson's disease in New Zealand. © 2018 International Parkinson and Movement Disorder Society.

Mammographic breast density in recent and longer-standing ethiopian immigrants to israel.

High breast density is associated with an increased risk of breast cancer development. Little is known concerning ethnic variations in breast density and its relevant contributing factors. We aimed to study breast density among Ethiopian immigrants to Israel in comparison with Israeli-born women and to determine any effect on breast density of the length of residency in the immigrant population. Mammographic breast density using the BI-RADS system was estimated and compared between 77 women of Ethiopian origin who live in Israel and 177 Israeli-born controls. Logistic regression analysis was performed to estimate the odds ratios (OR) for high density (BI-RADS score ≥ 3) vs low density (BI-RADS score < 3) cases, comparing the 2 origin groups. Ethiopian-born women had a crude OR of 0.15 (95% CI: 0.08-0.26) for high breast density compared with Israeli-born women. Adjustments for various cofounders did not affect the results. Time since immigration to Israel seemed to modify the relationship, with a stronger association for women who immigrated within 2 years prior to mammography (OR:0.07, 95% CI: 0.03-0.17) as opposed to women with a longer residency stay in Israel (OR:0.23, 95% CI:0.10-0.50). Adjustments of various confounders did not alter these findings. Breast density in Ethiopian immigrants to Israel is significantly lower than that of Israeli-born controls. Our study suggests a positive association between time since immigration and breast density. Future studies are required to define the possible effects of dietary change on mammographic density following immigration.

Racial/ethnic differences in the treatment of adolescent major depressive disorders (MDD) across healthcare providers participating in the medicaid program.

BACKGROUND: To examine whether racial/ethnic differences in receipt of MDD treatment could be explained by the specialty of provider diagnosing the adolescent. METHOD: Adolescents (10-20 years-old) with ≥2 MDD diagnoses were identified using 2005-2007 Medicaid data from Texas. Patients were categorized based on the types of provider who gave the initial MDD diagnosis (psychiatrist (PSY-I), social worker/psychologist (SWP-I), and primary care physician (PCP-I)). Within the sub-cohorts identified by each type of provider, patients were further divided by racial/ethnic groups. RESULTS: Of the 13,234-new pediatric MDD cases diagnosed, 61% were SWP-I, 33% PSY-I and 6% PCP-I. Results of the analysis using general linear multi-level model showed that being first diagnosed by a psychiatrist was associated with higher chance of receiving MDD related treatment (PCP-I vs. PSY-I (OR: 0.54, 95%CI: 0.4-0.7) and SWP-I vs. PSY-I (OR: 0.17, 95%CI: 0.1-0.2)). Specifically, regarding the receipt of pharmacotherapy, an interaction effect was detected between types of identifying providers and patients' race/ethnicity. The analysis stratified by race/ethnicity found Whites received comparable treatment regardless being PCP-Is or PSY-Is, while for Hispanics, being first identified by a PCP was associated with lower likelihood of receiving treatment as compared to being first identified by a psychiatrist. Further analysis stratified by provider types showed that a significant racial/ethnic variation in medication utilization was observed in PCP-Is, but not in PSY-Is. CONCLUSION: For adolescents with MDD, being first diagnosed by a psychiatrist was associated with higher treatment rate and reduced racial/ethnic variation in the utilization of pharmacotherapy.

The effects of age and ethnicity on the circadian variation of catecholamines and cortisol in employed women.

BACKGROUND: Women employed outside the home in urban settings must adapt to changing circadian microenvironments. The pattern and extent of vasoactive hormone responses to these changes may depend upon age and ethnic background. The purpose of this study was to evaluate the effects of age and ethnicity on the circadian variation of urinary norepinephrine, epinephrine, and cortisol excretion across work, home and sleep microenvironments. METHODS: The subjects of the study were 95 women (38 European-American, age = 35.4 ± 7.4; 28 African-American, age = 33.4 ± 7.9; 12 Asian-American, age = 36.7 ± 9.3 and 17 Hispanic-American age = 31.6 ± 10.9) employed as secretaries, lab technicians or office supervisors in New York City. Variation in the hormones across the microenvironments was evaluated using repeated measures ANCOVA with age group (18-29.9; 30-39.9; 40-49.9) and ethnicity as fixed factors. RESULTS: The results show that for norepinephrine and epinephrine, work excretion rates are substantially higher than sleep rates (p < .001), and for epinephrine home rates were higher than sleep rates (p < .001). Work and sleep cortisol excretion rates were also significantly higher than the rate at home, consistent with cortisol's circadian rhythm. (p < .002). Women in their twenties had substantially lower norepinephrine excretion rates than women over 30 (p < .04). There were also ethnic differences in norepinephrine (p < .04) and epinephrine (p = .11) output with Asian-American women having the lowest and African-American women having the highest rates. This variation is likely related to the ethnic variation in weight. There was no significant variation in cortisol excretion with age or ethnicity. CONCLUSION: The circadian rates of norepinephrine excretion differ by age and that of both catecholamines differ by ethnicity among women working outside the home. It is speculated that the age variation in norepinephrine may contribute to the development of vasomotor symptoms.

Higher incidence of nasopharyngeal carcinoma in some regions in the world confers for interplay between genetic factors and external stimuli.

Nasopharyngeal carcinoma (NPC) is a rare variety of head and neck cancers. The risk factors include three major causes: genetic factors, viral infection, and environmental and dietary factors. The types of NPC show strong ethnic and geographic variations. The keratinizing and non-keratinizing types are prevalent in the lower incidence regions like North America and Europe; whereas the undifferentiated type is mostly found in the regions with higher incidences like China, North Africa, Arctic, and Nagaland of North-East India. These suggest a possible major role of the internal genetic factors for generation and promotion of this disease. Viral infections might accelerate the process of carcinogenesis by helping in cellular proliferation and loss of apoptosis. Diet and other environmental factors promote these neoplastic processes and further progression of the disease occurs.

SULT1A1 copy number variation: ethnic distribution analysis in an Indian population.

Cytosolic sulfotransferases (SULTs) are phase II detoxification enzymes involved in metabolism of numerous xenobiotics, drugs and endogenous compounds. Interindividual variation in sulfonation capacity is important for determining an individual's response to xenobiotics. SNPs in SULTs, mainly SULT1A1 have been associated with cancer risk and also with response to therapeutic agents. Copy number variation (CNVs) in SULT1A1 is found to be correlated with altered enzyme activity. This short report primarily focuses on CNV in SULT1A1 and its distribution among different ethnic populations around the globe. Frequency distribution of SULT1A1 copy number (CN) in 157 healthy Indian individuals was assessed using florescent-based quantitative PCR assay. A range of 1 to >4 copies, with a frequency of SULT1A1 CN =2 (64.9%) the highest, was observed in our (Indian) population. Upon comparative analysis of frequency distribution of SULT1A1 CN among diverse population groups, a statistically significant difference was observed between Indians (our data) and African-American (AA) (p = 0.0001) and South African (Tswana) (p < 0.0001) populations. Distribution of CNV in the Indian population was found to be similar to that in European-derived populations of American and Japanese. CNV of SULT1A1 varies significantly among world populations and may be one of the determinants of health and diseases.

Trends in Breast Cancer Epidemiology in Chelyabinsk Region, 2006-2015

Breast cancer among women occupies a leading position in the profile of cancer incidence in most parts of the world. The present study of the incidence and prevalence of breast cancer was carried out using data from the Chelyabinsk population cancer registry for 2006-2015. A stable growth trend in the incidence over time was noted overall, as well as major differences in the figures for women of different ethnicities (Russian, Tatar, Bashkir), by far the highest incidences being observed for Russian women. Urban rates were generally higher than in rural sites and a shift towards older age at presentation was seen between 2006 and 2015. At the same time a slight decrease in mortality was noted, from 42.4% to 33.5% relative to incidence, with a decrease in the proportion of stage IV cancers. This might have been related to increasing use of mammography screening.The data have obvious connotations for primary prevention and particularly for measures adopted for secondary prevention in detection of the disease in its early stages, facilitating reduction in associated mortality. Improvement in screening rates is thus a high priority for more effective management of breast cancer in the region.

Molecular Determinants of Colon Cancer Susceptibility in the East and West.

The currently available knowledge of factors that dictate the development and progression as well as the clinical outcome of colorectal cancers (CRC) is mainly derived from Western countries. Considerable number of publications document different incidence rates and contrasting clinical features of CRC in various groups such as the differences between urban vs. rural areas, young vs. old age and the East vs. the West. In particular, Egyptian CRC is a surprisingly young age disease with higher proportion of poorly differentiated and advanced stage cancers as compared to the Western counterparts. Less number of publications addressed the molecular genetics and epigenetic basis of these differences. The available data on CRC and other cancers support a substantial role of several environmental risk factors which impinge on the epigenome and alter the overall cellular and tissue homeostasis. Thus, environmental factors could play a role in predisposition to CRC in general as well as in shaping distinct disease phenotypes in different settings. On the other hand, the environment offers a wide range of preventive modalities including a selection of dietary chemopreventive agents which could play a significant role in fighting cancer at early stages. We here compare the clinical and molecular characteristics of Eastern and Western CRC based on the latest literature. The genetic, epigenetic and environmental etiologies for the observed differences are discussed. Finally, prospects for cancer prevention in light of the increased etiologic understanding are outlined.