scholarly journals Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann–Pick disease type C1

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Andreea Chiorean ◽  
William S. Garver ◽  
David Meyre
Keyword(s):  
Natural Selection ◽  
South Asian ◽  
Asian Population ◽  
Loss Of Function ◽  
The South ◽  
South Asian Population ◽  
Asian Populations ◽  
Pathogenic Mutations ◽  
Z Scores ◽  
Niemann Pick

Abstract While homozygous pathogenic mutations in the NPC1 gene cause Niemann-Pick type C1 disease, heterozygous mutations cause highly-penetrant obesity. We aimed to investigate the prevalence of NPC1 mutations and their signatures of natural selection in 122,678 exome sequenced participants from six ethnic groups in the Genome Aggregation Database. Pathogenic missense coding mutations were identified by in silico tools and the ClinVar database. Signatures of natural selection were assessed by the probability of NPC1 being loss-of-function mutation intolerant and Z-scores of observed/expected synonymous and non-synonymous mutation ratios. There was no evidence of negative selection observed for synonymous, non-synonymous and loss-of-function mutations. However, there were significant ethnic differences in the prevalence of heterozygous pathogenic NPC1 mutations ranging from 0.56% in Ashkenazi Jewish to 3.26% in African/African Americans (5.8-fold difference). Four homozygous carriers of pathogenic NPC1 mutations were also identified, belonging to the South Asian population. In conclusion, NPC1 mutations are consistent with a model of balanced selection, where heterozygotes and homozygotes have higher and lower reproductive fitness, respectively. Therefore, NPC1 heterozygous mutations may account for a substantial and ethnic-dependent percentage of obesity in the general population, while NPC1 homozygous mutations may be frequent in the South Asian populations and warrants more investigation.

Smokeless tobacco consumption in the South Asian population of Sydney, Australia: prevalence, correlates and availability

2013 ◽  
Vol 33 (1) ◽  
pp. 86-92 ◽  
Author(s):  
Mohammad Shakhawat Hossain ◽  
Kypros Kypri ◽  
Bayzidur Rahman ◽  
Abul Hasnat Milton
Keyword(s):  
South Asian ◽  
Smokeless Tobacco ◽  
Asian Population ◽  
Tobacco Consumption ◽  
The South ◽  
South Asian Population ◽  
Sydney Australia

scholarly journals Association between body mass index (BMI) and hypertension in south Asian population: evidence from nationally-representative surveys

2019 ◽  
Vol 25 (1) ◽  
Author(s):  
Fariha Binte Hossain ◽  
Gourab Adhikary ◽  
Ariful Bari Chowdhury ◽  
Md Shajedur Rahman Shawon
Keyword(s):  
Body Mass Index ◽  
Body Mass ◽  
South Asian ◽  
Asian Population ◽  
Wealth Index ◽  
Population Level ◽  
Overweight And Obesity ◽  
National Committee ◽  
South Asian Population ◽  
Asian Populations

Abstract Background Although there has been a well-established association between overweight-obesity and hypertension, whether such associations are heterogeneous for South Asian populations, or for different socioeconomic groups is not well-known. We explored the associations of overweight and obesity using South Asian cut-offs with hypertension, and also examined the relationships between body mass index (BMI) and hypertension in various socioeconomic subgroups. Methods We analysed the recent Demographic and Health Survey (DHS) data from Bangladesh, India, and Nepal, with a total of 821,040 men and women. Hypertension was defined by 2017 ACC/AHA cut-offs and by Joint National Committee 7 (JNC7) cut-offs for measured blood pressure and overweight and obesity were defined by measured height and weight. We used multiple logistic regressions to estimate the odds ratios (ORs) with 95% confidence intervals (CIs) of hypertension for overweight and obesity as well as for each 5-unit increase in BMI. Results The prevalence of hypertension using JNC7 cut-offs among participants increased by age in all three countries. The prevalence ranged from 17.4% in 35–44 years to 34.9% in ≥55 years in Bangladesh, from 4.6% in 18–24 years to 28.6% in 45–54 years in India, and from 3.8% in 18–24 years to 39.2% in ≥55 years in Nepal. Men were more likely to be hypertensive than women in India and Nepal, but not in Bangladesh. Overweight and obesity using both WHO and South Asian cut-offs were associated with higher odds of hypertension in all countries. For each 5 kg/m2 increase in BMI, the ORs for hypertension were 1.79 (95% CI: 1.65–1.93), 1.59 (95% CI: 1.58–1.61), and 2.03 (95% CI: 1.90–2.16) in Bangladesh, India, and Nepal, respectively. The associations between BMI and hypertension were consistent across various subgroups defined by sex, age, urbanicity, educational attainment and household’s wealth index. Conclusions Our study shows that the association of BMI with hypertension is stronger for South Asian populations at even lower cut-offs points for overweight and obesity. Therefore, public health measures to reduce population-level reduction in BMI in all population groups would also help in lowering the burden of hypertension.

scholarly journals Relationship Between Staphylococcus aureus Carriage and Surgical Site Infections Following Total Hip and Knee Arthroplasty in the South Asian Population: Protocol for a Prospective Cohort Study (Preprint)

2018 ◽  
Author(s):  
Syed H Mufarrih ◽  
Nada Q Qureshi ◽  
Anum Sadruddin ◽  
Pervaiz Hashmi ◽  
Syed Faisal Mahmood ◽  
...  
Keyword(s):  
South Asian ◽  
Knee Arthroplasty ◽  
Surgical Site Infections ◽  
Asian Population ◽  
University Hospital ◽  
The South ◽  
South Asian Population ◽  
Methicillin Resistant ◽  
Total Hip ◽  
Hip And Knee Arthroplasty

BACKGROUND Surgical site infections following total hip or knee arthroplasties have a reported rate of 0.49%-2.5% and can cause significant morbidity as well as tripling the cost of health care expenses. Both methicillin sensitive and methicillin resistant strains of Staphylococcus aureus surgical site infections have been established as a major risk factor for postoperative surgical site infections. S. aureus colonizes the nose, axillae, and perineal region in up to 20%-30% of individuals. Although the literature has reported a higher prevalence of methicillin resistant S. aureus in the South Asian population, routine preoperative screening and prophylaxis have not yet been implemented. OBJECTIVE The primary objective of our study is to identify the relationship between preoperative colonization status of S. aureus and incidence of postoperative surgical site infections in patients undergoing following total hip and knee arthroplasties. As part of the secondary objectives of this study, we will also investigate patient characteristics acting as risk factors for S. aureus colonization as well as the outcomes of total hip and knee arthroplasty patients which are affected by surgical site infections. METHODS This prospective cohort study will comprise of screening all patients older than 18 years of age admitted to the Aga Khan University Hospital for a primary total hip or knee arthroplasty for preoperative colonization with S. aureus. The patients will be followed postoperatively for up to one year following the surgery to assess the incidence of surgical site infections. The study duration will be 2 years (March 2018 to March 2020). For the purpose of screening, pooled swabs will be taken from the nose, axillae, and groin of each patient and inoculated in a brain heart infusion, followed by subculture onto mannitol salt agar and sheep blood agar. For methicillin resistant S. aureus identification, a cefoxitin disk screen will be done. Data will be analyzed using SPSS v23 and both univariate and multivariate regression analysis will be conducted. RESULTS Data collection for this study will commence at the Aga Khan University Hospital, Pakistan during March 2018. CONCLUSIONS This study will not only estimate the true burden caused by S. aureus in the population under study but will also help identify the patients at a high risk of surgical site infections so that appropriate interventions, including prophylaxis with antibiotics such as muciprocin ointment or linezolid, can be made. Given the differences in lifestyle, quality, and affordability of health care and the geographical variation in patterns of antibiotic resistance, this study will contribute significantly to providing incentive for routine screening and prophylaxis for S. aureus including methicillin resistant S. aureus colonization in the South Asian population. REGISTERED REPORT IDENTIFIER RR1-10.2196/10219

scholarly journals The Need for Culturally Competent Care Within Gastroenterology Services: Evidence from Research with Adults of South Asian Origin Living with Inflammatory Bowel Disease

2020 ◽  
Author(s):  
Suzanne Mukherjee ◽  
Bryony Beresford ◽  
Karl Atkin ◽  
Shaji Sebastian
Keyword(s):  
Inflammatory Bowel Disease ◽  
South Asian ◽  
Bowel Disease ◽  
Extended Family ◽  
Religious Faith ◽  
Asian Population ◽  
Structured Interviews ◽  
South Asian Population ◽  
Asian Populations ◽  
Inflammatory Bowel

Abstract Background and Aims It is widely acknowledged that the incidence of inflammatory bowel disease [IBD] is rising within South Asian populations, yet research into the experiences of this group of patients is rare. In this study the lived experiences of UK South Asian adults with IBD, including support from gastroenterology services, was investigated. Methods A sample of 33 patients representing the diversity of the UK South Asian population were recruited through five gastroenterology clinics in England. In-depth semi-structured interviews were conducted, audio-recorded, transcribed and analysed using the Framework approach. Results Although many experiences align with those of the general IBD population, participants believed that South Asian cultures and/or religions can lead to additional challenges. These are linked to: family and friends’ understanding of IBD; self and family attributions regarding IBD; stigma surrounding ill health; the taboo of bowel symptoms; managing ‘spicy food’; beliefs about food and ill health; roles within the family; living with extended family; the use of complementary and alternative therapies; and visits to family overseas. Religious faith helped many to cope with having IBD, but symptoms could hamper their ability to practise faith. Gastroenterology services were viewed positively, but unmet needs were identified, some of which were culturally specific. Conclusion Gastroenterology services have an important role to play in helping patients to overcome the challenges they encounter in their everyday life, both by providing individual patients with culturally appropriate care and advice, and via interventions to increase awareness and understanding of IBD within wider South Asian communities.

Abstract P472: Addressing Hypertension and Cardiovascular Disease in South Asian San Joaquin Population

Circulation ◽  
2020 ◽  
Vol 141 (Suppl_1) ◽  
Author(s):  
Maha Siddiqui
Keyword(s):  
Blood Pressure ◽  
At Risk ◽  
South Asian ◽  
Low Income ◽  
South Asians ◽  
Asian Population ◽  
The South ◽  
South Asian Population ◽  
Asian Community ◽  
South Asian Community

Introduction: South Asians have a higher death rate than any other population for cardiovascular disease (CVD) and high blood pressure (HBP). San Joaquin has a growing rate of South Asians immigrants who may be at risk for CVD. Objectives: Trainees conducted hypertension and CVD screenings at South Asians religious organizations to reduce the risk of CVD and spread awareness about the factors that lead to CVD and its implications in the South Asians population due to environmental racism in the most underserved county for health care, San Joaquin. Methods: I trained low-income minority high school students to conduct weekly blood pressure screenings and serve as a health technology coach by each student monitoring 2 hypertensive patients of 48 hypertensive or at risk hypertensive and low-income San Joaquin residents and constantly stressed, and at risk for CVD. CVD screenings were conducted at all San Joaquin gurdwaras and mosques to spread awareness about heart health and track hypertension in the South Asians community. Findings: -61.7% of the South Asian population of San Joaquin are at risk for CVD -3.3% of the South Asian population of San Joaquin are hypotensive -28.6% of the South Asian population of San Joaquin are Stage 1 hypertensive -29.7% of the South Asian population of San Joaquin are Stage 2 hypertensive -38.3% of the South Asian population of San Joaquin have normal blood pressure but consume red meat more than 4 times a month Direct Outcomes of Events: -Development of self-advocacy in the South Asian community. Community members became activists for their own heart health. -Increased participation of youth, in an otherwise adult dominant environment (i.e. the mosques and gurdwaras). -Increased awareness of CVD, hypertension, hypotension, and periodontal disease (PD) among the South Asian community. -Increased participation by youth and adults on activities such as games, challenges and information booths dispensing awareness on CVD and PD. -Increased interaction between community members of different religions, creed, and socioeconomic backgrounds. -Awareness, education among the South Asian community for better heart and oral health -Diagnoses and referrals of suspected cases of hypertension and CVD -Improved patient-provider trust -San Joaquin high school students trained for community outreach events and determined to address CVD. -Youth learned the value of empathy, multiculturalism, and service to disadvantaged communities through the program and volunteering.

scholarly journals Caucasian and south Asian men show equivalent improvements in surrogate biomarkers of cardiovascular and metabolic health following 6-weeks of supervised resistance training

F1000Research ◽  
2018 ◽  
Vol 7 ◽  
pp. 1334
Author(s):  
Allan Knox ◽  
Nicholas Sculthorpe ◽  
Fergal Grace
Keyword(s):  
Resistance Exercise ◽  
South Asian ◽  
Metabolic Response ◽  
South Asians ◽  
Fasting Blood Glucose ◽  
Density Lipoprotein ◽  
Asian Population ◽  
Metabolic Health ◽  
The South ◽  
South Asian Population

Background: The South Asian population have greater cardiovascular risk than their age-matched Caucasian counterparts, characterized by unfavorable biomarkers. South Asians may also be partially resistant to the pleiotropic benefits of physical activity on cardiovascular health. There is a current absence of studies that compare markers of cardio-metabolic health between Caucasians and South Asians employing resistance exercise. This study set out to compare the response in biomarkers of cardio-metabolic health in Caucasians and South Asians in response to resistance exercise.Methods: Caucasian (n=15, 25.5 ± 4.8 yrs) and South Asian (n=13, 25.4 ± 7.0 yrs) males completed a 6-week progressive resistance exercise protocol. Fasting blood glucose, insulin, and their product insulin resistance (HOMA-IR), triglycerides (TRIGS), low density lipoprotein (LDL), high density lipoprotein (HDL), total cholesterol (TC), vascular endothelial growth factor (VEGF), asymmetric dimythylarginine (ADMA), L-arginine (L-ARG) and C-reactive protein (CRP) were established at baseline and following resistance exercise.Results: There were significant improvements in fasting glucose, TC, LDL, HDL and VEGF in both groups following resistance exercise (p<0.05, for all). No change was observed in insulin, HOMA-IR, TRIGS, ADMA, L-ARG following resistance exercise (p>0.05, in both groups). CRP increased in the South Asian group (p<0.05) but not the Caucasian group (p>0.05)Conclusions: The cardio-metabolic response to resistance exercise is comparable in young Caucasian and South Asian males though inflammatory response to exercise may be prolonged in South Asians.

scholarly journals A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India

2019 ◽  
Vol 41 (1) ◽  
pp. 122-128
Author(s):  
Frank X. Donovan ◽  
Avani Solanki ◽  
Minako Mori ◽  
Niranjan Chavan ◽  
Merin George ◽  
...  
Keyword(s):  
South Asian ◽  
Fanconi Anemia ◽  
Asian Population ◽  
The South ◽  
South Asian Population ◽  
High Prevalence
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