Displaying publications 1 - 20 of 273 in total

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  1. Pakianathan MR, Kamarulzaman A, Ismail R, McMillan A, Scott GR
    AIDS, 1999 Sep 10;13(13):1787-8.
    PMID: 10509585
    Matched MeSH terms: European Continental Ancestry Group
  2. Hargreaves JA, Matejka JM, Cleaton-Jones PE, Williams S
    ASDC J Dent Child, 1995 Sep-Oct;62(5):353-5.
    PMID: 8550926
    Little new evidence on the prevalence of injury to the anterior teeth of children has been reported in the past five years and, in South Africa, trauma to the teeth of children in different ethnic groups has not been compared respectively. The purpose of this investigation was to determine the prevalence of dental trauma using well-defined criteria and to sample a specific age-group. Five regions were chosen and 1035 children in the eleven-year age-group were examined. No statistical significance was found between the ethnic groups related to the amount of injury sustained. For all groups, boys received more injuries than girls. The most common injury was fracture of the enamel of the maxillary central incisor. With 15 percent of the children receiving some level of trauma by age eleven years, this is one of the main dental treatment needs for South African children.
    Matched MeSH terms: European Continental Ancestry Group
  3. Deurenberg P, Deurenberg-Yap M
    Acta Diabetol, 2003 Oct;40 Suppl 1:S246-9.
    PMID: 14618484
    Most in vivo body composition methods rely on assumptions that may vary among different population groups as well as within the same population group. The assumptions are based on in vitro body composition (carcass) analyses. The majority of body composition studies were performed on Caucasians and much of the information on validity methods and assumptions were available only for this ethnic group. It is assumed that these assumptions are also valid for other ethnic groups. However, if apparent differences across ethnic groups in body composition 'constants' and body composition 'rules' are not taken into account, biased information on body composition will be the result. This in turn may lead to misclassification of obesity or underweight at an individual as well as a population level. There is a need for more cross-ethnic population studies on body composition. Those studies should be carried out carefully, with adequate methodology and standardization for the obtained information to be valuable.
    Matched MeSH terms: European Continental Ancestry Group
  4. Mahadeva S, Raman MC, Ford AC, Follows M, Axon AT, Goh KL, et al.
    Aliment Pharmacol Ther, 2005 Jun 15;21(12):1483-90.
    PMID: 15948816
    There is a paucity of data directly comparing dyspepsia in Western and Eastern populations.
    Matched MeSH terms: European Continental Ancestry Group/ethnology*
  5. Komahan K, Reidpath DD
    Am J Epidemiol, 2014 Aug 1;180(3):325-9.
    PMID: 24944286 DOI: 10.1093/aje/kwu129
    Correct identification of ethnicity is central to many epidemiologic analyses. Unfortunately, ethnicity data are often missing. Successful classification typically relies on large databases (n > 500,000 names) of known name-ethnicity associations. We propose an alternative naïve Bayesian strategy that uses substrings of full names. Name and ethnicity data for Malays, Indians, and Chinese were provided by a health and demographic surveillance site operating in Malaysia from 2011-2013. The data comprised a training data set (n = 10,104) and a test data set (n = 9,992). Names were spliced into contiguous 3-letter substrings, and these were used as the basis for the Bayesian analysis. Performance was evaluated on both data sets using Cohen's κ and measures of sensitivity and specificity. There was little difference between the classification performance in the training and test data (κ = 0.93 and 0.94, respectively). For the test data, the sensitivity values for the Malay, Indian, and Chinese names were 0.997, 0.855, and 0.932, respectively, and the specificity values were 0.907, 0.998, and 0.997, respectively. A naïve Bayesian strategy for the classification of ethnicity is promising. It performs at least as well as more sophisticated approaches. The possible application to smaller data sets is particularly appealing. Further research examining other substring lengths and other ethnic groups is warranted.
    Matched MeSH terms: European Continental Ancestry Group
  6. Lie-Injo LE, Hassan K, Joishy SK, Lim ML
    Am J Hematol, 1986 Jul;22(3):265-74.
    PMID: 2424302
    The Indian rubber estate workers in Negri Sembilan, Malaysia, who originated from Orissa in India were found to have a high frequency of Hb S (Joishy SK, Hassan K: Clin Res 28:280, 1980). Unlike the usually severe clinical picture of sickle cell anemia seen in African and American blacks, the clinical picture of the disease in this population was mild and many have reached old age. We studied the leukocyte DNA of 12 patients with sickle cell anemia, ranging in age from 4 to 61 years and 30 sickle cell trait carriers, ranging in age from 7 to 63 years, for the presence of alpha-globin gene deletions by gene mapping according to Southern (Southern EM: J Mol Biol 98:503, 1975), using alpha- and zeta-globin gene probes obtained by nick translation of the alpha- and zeta-globin genes cloned into plasmid. All 12 sickle cell anemia patients were found to have alpha-thalassemia2 (alpha-thal2), either in the homozygous or heterozygous condition. Of the Hb S trait carriers, six did not have alpha-thal2 or alpha-thal1 and 24 had alpha-thal2 (15 heterozygous, 9 homozygous). Seven of these Hb S trait carriers with alpha-thal2 had an additional gene abnormality. Five of them had a fast-moving Eco RI fragment 5.6 kb long that hybridized with zeta-specific probe but not with alpha-specific probe. An unusual DNA pattern of a different type was further found in the other two. Bgl II restriction analysis showed that the alpha-thal2 was mostly of the rightward deletion alpha-thal1 genotype. None of the sickle cell anemia patients and Hb S trait carriers had deletion type alpha-thal1. The sickle cell anemia patients had very high levels of Hb F and low levels of Hb A2. The Hb S trait carriers with alpha-thal2 had relatively low levels of Hb S.
    Matched MeSH terms: European Continental Ancestry Group
  7. Kramer I, Hooning MJ, Mavaddat N, Hauptmann M, Keeman R, Steyerberg EW, et al.
    Am J Hum Genet, 2020 11 05;107(5):837-848.
    PMID: 33022221 DOI: 10.1016/j.ajhg.2020.09.001
    Previous research has shown that polygenic risk scores (PRSs) can be used to stratify women according to their risk of developing primary invasive breast cancer. This study aimed to evaluate the association between a recently validated PRS of 313 germline variants (PRS313) and contralateral breast cancer (CBC) risk. We included 56,068 women of European ancestry diagnosed with first invasive breast cancer from 1990 onward with follow-up from the Breast Cancer Association Consortium. Metachronous CBC risk (N = 1,027) according to the distribution of PRS313 was quantified using Cox regression analyses. We assessed PRS313 interaction with age at first diagnosis, family history, morphology, ER status, PR status, and HER2 status, and (neo)adjuvant therapy. In studies of Asian women, with limited follow-up, CBC risk associated with PRS313 was assessed using logistic regression for 340 women with CBC compared with 12,133 women with unilateral breast cancer. Higher PRS313 was associated with increased CBC risk: hazard ratio per standard deviation (SD) = 1.25 (95%CI = 1.18-1.33) for Europeans, and an OR per SD = 1.15 (95%CI = 1.02-1.29) for Asians. The absolute lifetime risks of CBC, accounting for death as competing risk, were 12.4% for European women at the 10th percentile and 20.5% at the 90th percentile of PRS313. We found no evidence of confounding by or interaction with individual characteristics, characteristics of the primary tumor, or treatment. The C-index for the PRS313 alone was 0.563 (95%CI = 0.547-0.586). In conclusion, PRS313 is an independent factor associated with CBC risk and can be incorporated into CBC risk prediction models to help improve stratification and optimize surveillance and treatment strategies.
    Matched MeSH terms: European Continental Ancestry Group
  8. Darabi H, McCue K, Beesley J, Michailidou K, Nord S, Kar S, et al.
    Am J Hum Genet, 2015 Jul 02;97(1):22-34.
    PMID: 26073781 DOI: 10.1016/j.ajhg.2015.05.002
    Genome-wide association studies have identified SNPs near ZNF365 at 10q21.2 that are associated with both breast cancer risk and mammographic density. To identify the most likely causal SNPs, we fine mapped the association signal by genotyping 428 SNPs across the region in 89,050 European and 12,893 Asian case and control subjects from the Breast Cancer Association Consortium. We identified four independent sets of correlated, highly trait-associated variants (iCHAVs), three of which were located within ZNF365. The most strongly risk-associated SNP, rs10995201 in iCHAV1, showed clear evidence of association with both estrogen receptor (ER)-positive (OR = 0.85 [0.82-0.88]) and ER-negative (OR = 0.87 [0.82-0.91]) disease, and was also the SNP most strongly associated with percent mammographic density. iCHAV2 (lead SNP, chr10: 64,258,684:D) and iCHAV3 (lead SNP, rs7922449) were also associated with ER-positive (OR = 0.93 [0.91-0.95] and OR = 1.06 [1.03-1.09]) and ER-negative (OR = 0.95 [0.91-0.98] and OR = 1.08 [1.04-1.13]) disease. There was weaker evidence for iCHAV4, located 5' of ADO, associated only with ER-positive breast cancer (OR = 0.93 [0.90-0.96]). We found 12, 17, 18, and 2 candidate causal SNPs for breast cancer in iCHAVs 1-4, respectively. Chromosome conformation capture analysis showed that iCHAV2 interacts with the ZNF365 and NRBF2 (more than 600 kb away) promoters in normal and cancerous breast epithelial cells. Luciferase assays did not identify SNPs that affect transactivation of ZNF365, but identified a protective haplotype in iCHAV2, associated with silencing of the NRBF2 promoter, implicating this gene in the etiology of breast cancer.
    Matched MeSH terms: European Continental Ancestry Group/genetics
  9. Darst BF, Shen J, Madduri RK, Rodriguez AA, Xiao Y, Sheng X, et al.
    Am J Hum Genet, 2023 Jul 06;110(7):1200-1206.
    PMID: 37311464 DOI: 10.1016/j.ajhg.2023.05.010
    Genome-wide polygenic risk scores (GW-PRSs) have been reported to have better predictive ability than PRSs based on genome-wide significance thresholds across numerous traits. We compared the predictive ability of several GW-PRS approaches to a recently developed PRS of 269 established prostate cancer-risk variants from multi-ancestry GWASs and fine-mapping studies (PRS269). GW-PRS models were trained with a large and diverse prostate cancer GWAS of 107,247 cases and 127,006 controls that we previously used to develop the multi-ancestry PRS269. Resulting models were independently tested in 1,586 cases and 1,047 controls of African ancestry from the California Uganda Study and 8,046 cases and 191,825 controls of European ancestry from the UK Biobank and further validated in 13,643 cases and 210,214 controls of European ancestry and 6,353 cases and 53,362 controls of African ancestry from the Million Veteran Program. In the testing data, the best performing GW-PRS approach had AUCs of 0.656 (95% CI = 0.635-0.677) in African and 0.844 (95% CI = 0.840-0.848) in European ancestry men and corresponding prostate cancer ORs of 1.83 (95% CI = 1.67-2.00) and 2.19 (95% CI = 2.14-2.25), respectively, for each SD unit increase in the GW-PRS. Compared to the GW-PRS, in African and European ancestry men, the PRS269 had larger or similar AUCs (AUC = 0.679, 95% CI = 0.659-0.700 and AUC = 0.845, 95% CI = 0.841-0.849, respectively) and comparable prostate cancer ORs (OR = 2.05, 95% CI = 1.87-2.26 and OR = 2.21, 95% CI = 2.16-2.26, respectively). Findings were similar in the validation studies. This investigation suggests that current GW-PRS approaches may not improve the ability to predict prostate cancer risk compared to the PRS269 developed from multi-ancestry GWASs and fine-mapping.
    Matched MeSH terms: European Continental Ancestry Group/genetics
  10. Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, et al.
    Am J Med Genet A, 2017 Sep;173(9):2323-2334.
    PMID: 28748642 DOI: 10.1002/ajmg.a.38362
    Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups. In this study, individuals from diverse populations with NS were evaluated clinically and by facial analysis technology. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%. Individuals were grouped into categories of African descent (African), Asian, Latin American, and additional/other. Across these different population groups, NS was phenotypically similar with only 2 of 21 clinical elements showing a statistically significant difference. The most common clinical characteristics found in all population groups included widely spaced eyes and low-set ears in 80% or greater of participants, short stature in more than 70%, and pulmonary stenosis in roughly half of study individuals. Using facial analysis technology, we compared 161 Caucasian, African, Asian, and Latin American individuals with NS with 161 gender and age matched controls and found that sensitivity was equal to or greater than 94% for all groups, and specificity was equal to or greater than 90%. In summary, we present consistent clinical findings from global populations with NS and additionally demonstrate how facial analysis technology can support clinicians in making accurate NS diagnoses. This work will assist in earlier detection and in increasing recognition of NS throughout the world.
    Matched MeSH terms: European Continental Ancestry Group/genetics
  11. Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, et al.
    Am J Med Genet A, 2017 Apr;173(4):879-888.
    PMID: 28328118 DOI: 10.1002/ajmg.a.38199
    22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male. Individuals were grouped into categories of African descent (African), Asian, and Latin American. We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in greater than 50% of participants. When comparing the clinical features of 22q11.2 DS in each population, the proportion of individuals within each clinical category was statistically different except for learning problems and ear anomalies (P 
    Matched MeSH terms: European Continental Ancestry Group
  12. Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, et al.
    Am J Med Genet A, 2020 Feb;182(2):303-313.
    PMID: 31854143 DOI: 10.1002/ajmg.a.61461
    Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p < .001) was found for TS versus general population controls and 0.925 (p < .001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.
    Matched MeSH terms: European Continental Ancestry Group/genetics
  13. Irfan M, Hussain NHN, Noor NM, Mohamed M, Sidi H, Ismail SB
    Am J Mens Health, 2020 7 7;14(4):1557988320937200.
    PMID: 32623948 DOI: 10.1177/1557988320937200
    Male sexual dysfunctions (MSDs) often remain undiagnosed and untreated in Asia compared to Europe due to conservative cultural and religious beliefs, socioeconomic conditions, and lack of awareness. There is a tendency for the use of traditional medicines and noncompliance with and reduced access to modern healthcare. The present systematic review compared the incidence and factors of MSD in European and Asian populations. English language population/community-based original articles on MSDs published in MEDLINE from 2008 to 2018 were retrieved. A total of 5392 studies were retrieved, of which 50 (25 Asian and 25 European) were finally included in this review. The prevalence of erectile dysfunction (ED) (0%-95.0% vs. 0.9%-88.8%), low satisfaction (3.2%-37.6% vs. 4.1%-28.3%), and hypoactive sexual desire disorder (HSDD) (0.7%-81.4 vs. 0%-65.5%) was higher in Asian than in European men, whereas the prevalence of anorgasmia (0.4% vs. 3%-65%) was lower in Asian than in European men. Age was an independent positive factor of MSD. In European men over 60 years old, the prevalence of premature ejaculation (PE) decreased. The prevalence of MSD was higher in questionnaires than in interviews. The significant factors were age, single status, low socioeconomic status, poor general health, less physical activity, cardiovascular diseases, diabetes, obesity, lower urinary tract symptoms, prostatitis, anxiety, depression and alcohol, tobacco, and drug use. The prevalence of MSD differed slightly in Asian and European men. There is a need to conduct large studies on the various Asian populations for the effective management of MSD.
    Matched MeSH terms: European Continental Ancestry Group/statistics & numerical data*
  14. Gordon H, Huskisson ID, Torrington M, Pannell A, Zackon D
    Am J Obstet Gynecol, 1970 May 15;107(2):254-62.
    PMID: 5462441
    Matched MeSH terms: European Continental Ancestry Group
  15. Mihailidis S, Scriven G, Khamis M, Townsend G
    Am. J. Phys. Anthropol., 2013 Sep;152(1):19-30.
    PMID: 23913636 DOI: 10.1002/ajpa.22323
    We present new data on the prevalence and patterning of the maxillary premolar accessory ridge (MxPAR), a common but understudied morphological dental trait that is expressed as a linear elevation extending from the buccal cusp ridge to the medial sulcus of maxillary premolar teeth. A total of 579 sets of dental casts, representing six ethnic groups, were scored using the five-grade system proposed by Burnett et al. (2010). The frequency and distribution of the MxPAR were determined by tooth type, sex, side, locus and ethnicity, and the applicability of the scoring system was assessed. The MxPAR was found in approximately two-thirds of premolar teeth, more often on second than first premolars, and more often on the distal aspect of the occlusal surface than the mesial. There was some evidence that more pronounced forms of the feature occurred more often in males than females, and that there may be some directionality in its expression between sides. Variation was also noted in the frequency of occurrence and degree of expression of the MxPAR between ethnic groups. Intra- and inter-observer concordance rates for scoring the MxPAR were low, confirming that it was difficult to score the trait identically on two different occasions. Our findings have clarified the distribution of the MxPAR within the dentition and between ethnic groups, and highlighted the need for researchers to carry out thorough replicability studies and to decide on an appropriate breakpoint for determining presence or absence of this feature before embarking on genetic studies or bio-distance analyses.
    Matched MeSH terms: European Continental Ancestry Group/statistics & numerical data*
  16. Petrakis NL, Pingle U, Petrakis SJ, Petrakis SL
    Am. J. Phys. Anthropol., 1971 Jul;35(1):141-4.
    PMID: 5138849
    Matched MeSH terms: European Continental Ancestry Group
  17. Ortolani O, Conti A, Chan YK, Sie MY, Ong GS
    Anaesth Intensive Care, 2004 Apr;32(2):250-5.
    PMID: 15957725
    Differences in sensitivity to anaesthetic drugs may exist among different ethnic groups. Allelic variants for drug metabolizing isoenzymes and pharmacokinetic differences may account for a variable response to some anaesthetic drugs. This study was designed to compare propofol consumption and recovery characteristics in four ethnic groups: Chinese, Malays, and Indians in Malaysia and Caucasians in Italy. Patients undergoing total intravenous anaesthesia with propofol and fentanyl were evaluated for propofol consumption and recovery time. The Bispectral Index (BIS) was used to maintain the same anaesthesia depth in all patients. The BIS value, the response to verbal stimuli and eye-opening time were used to assess recovery. After propofol discontinuation the BIS values returned to baseline in 11+/-4.2 min for Caucasians, in 12.5+/-5.1 min for Chinese, 15.9+/-6.3 min for Malays and 22.1+/-8.1 for Indians. Time to eye-opening was 11.63+/-4.2 min in Caucasians, 13.23+/-4.9 min in Chinese, 16.97+/-5.2 min in Malays and 22.3+/-6.6 min in Indians. The propofol consumption was significantly lower in Indians compared to the other three groups (P<0.01). The recovery of Indians was much slower compared to Chinese, Malays and Caucasians. The recovery time of Malays is significantly slower compared to Chinese and Caucasians. Differences in propofol consumption and recovery time were not significant between Chinese and Caucasians, but the ratio recovery time/propofol consumption was significantly lower in Caucasians compared to all the other groups.
    Matched MeSH terms: European Continental Ancestry Group
  18. Chia PL, Earnest A, Lee R, Lim J, Wong CP, Chia YW, et al.
    Ann Acad Med Singap, 2013 Sep;42(9):432-6.
    PMID: 24162317
    INTRODUCTION: In Singapore, the age-standardised event rates of myocardial infarction (MI) are 2- and 3-fold higher for Malays and Indians respectively compared to the Chinese. The objectives of this study were to determine the prevalence and quantity of coronary artery calcification (CAC) and non-calcified plaques across these 3 ethnic groups.

    MATERIALS AND METHODS: This was a retrospective descriptive study. We identified 1041 patients (810 Chinese, 139 Malays, 92 Indians) without previous history of cardiovascular disease who underwent cardiac computed tomography for atypical chest pain evaluation. A cardiologist, who was blinded to the patients' clinical demographics, reviewed all scans. We retrospectively analysed all their case records.

    RESULTS: Overall, Malays were most likely to be active smokers (P = 0.02), Indians had the highest prevalence of diabetes mellitus (P = 0.01) and Chinese had the highest mean age (P <0.0001). The overall prevalence of patients with non-calcified plaques as the only manifestation of sub-clinical coronary artery disease was 2.1%. There was no significant difference in the prevalence of CAC, mean CAC score or prevalence of non-calcified plaques among the 3 ethnic groups. Active smoking, age and hypertension were independent predictors of CAC. Non-calcified plaques were positively associated with male gender, age, dyslipidaemia and diabetes mellitus.

    CONCLUSION: The higher MI rates in Malays and Indians in Singapore cannot be explained by any difference in CAC or non-calcified plaque. More research with prospective follow-up of larger patient populations is necessary to establish if ethnic-specific calibration of CAC measures is needed to adjust for differences among ethnic groups.

    Matched MeSH terms: European Continental Ancestry Group/statistics & numerical data*
  19. Lim LC, Tan HH, Lee LH, Tien SL, Abdul Ghafar A
    Ann Acad Med Singap, 1999 Mar;28(2):252-5.
    PMID: 10497677
    Resistance to activated protein C (APC-R) is the commonest inherited cause of thrombosis among Caucasians. Few studies have been carried out on its prevalence in Asians. We conducted a prospective study on 60 patients with thromboembolism to determine its prevalence in our local population. The Factor V Leiden (VaQ506) mutation associated with this condition was detected by amplification of the Factor V gene by polymerase chain reaction (PCR) and digestion of the fragment with Mnl I. Three patients were found to be heterozygous for this mutation. None of the 3 patients had other concomitant hypercoagulable states. In addition, we studied the prevalence of this condition in Malays which was found to be 0.5%. Our study suggests that the incidence of APC-R is much lower here compared to the West.
    Matched MeSH terms: European Continental Ancestry Group/genetics
  20. Seow CC, Chow PK, Khong KS
    Ann Acad Med Singap, 1999 Mar;28(2):231-6.
    PMID: 10497673
    Joint hypermobility is a clinical entity that has been little studied in Southeast Asia in contrast to the many studies that have been conducted in the West. A pioneer study was conducted in Singapore involving 306 subjects from the three major races i.e. Chinese, Malays and Indians. Their ages ranged from 15 to 39 years. The objective was to ascertain the joint mobility profile in a study sample representative of the Singapore population and the prevalence of joint hypermobility amongst normal individuals. Joint mobility was assessed using criteria according to Carter and Wilkinson modified by Beighton et al. The distribution of the three major races in the study sample was based on the 1990 census of the Singapore population. The prevalence of joint hypermobility was found to be 17%. The results showed that joint mobility decreases with age and that females had consistently higher degree of joint mobility compared to males throughout the age group. Among the racial groups, Malays had the highest degree of joint mobility followed by Indians and Chinese.
    Matched MeSH terms: European Continental Ancestry Group
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