AIM: This study aims to investigate the genetic polymorphisms of CYP3A5 among the Orang Asli in Peninsular Malaysia using a next generation sequencing platform.
METHODS: Genomic DNAs were extracted from blood samples of the three main Orang Asli tribes and whole-genome sequencing was performed.
RESULTS: A total of 61 single nucleotide polymorphisms were identified and all the SNPs were located in introns except rs15524, which is in the 3'UTR, and 11 of these polymorphisms were novel. Two allelic variants and three genotypes were identified in the Orang Asli. The major allelic variant was the non-functional CYP3A5*3 (66.4%). The percentages of Orang Asli with CYP3A5*3/*3 (47.2%) and CYP3A5*1/*3 (38.1%) genotypes are more than twice the percentage of Orang Asli with CYP3A5*1/*1 (14.8%) genotype. Almost half of the Orang Asli harboured CYP3A5 non-expressor genotype (CYP3A5*3/*3).
CONCLUSIONS: The predominance of the CYP3A5 non-expressor genotype among the Orang Asli was unravelled and the findings in this study may serve as a guide for the optimisation of pharmacotherapy for the Orang Asli community.
METHODS: 4,385 ever-married women, aged 18-83 years, from six rural districts, were interviewed to enquire about the types of their marriages. The data was collected through interviews conducted by trained female interviewers and analysed through SPSS-20.
RESULTS: Twelve percent marriages were the result of Vanni, Swara, Sang Chatti, Badal , Bazo i.e. to settle blood feuds; 58.7% were Watta-Satta / Pait Likhai i.e. exchange marriages and pledging a fetus; in 7.9% case bride was bought; 1.0% marriages were Badle-Sullah i.e to settle dispute other than murder and 0.1% women were married to Quran. The traditional marriages, where wishes of both families and consent of the couple to be married are also considered, constituted 20.3%. The prevalence of Vanni, Swara / Sang Chatti / Badal / Bazo was the highest in Balochistan (22-24%) followed by Sindh (5-17%) and the least in Punjab (0-4%). The other practices in Balochistan were selling the bride (10-17%), Badle-Sulah (3%) and marriage to Quran (1%). Watta Satta was most prevalent in Sindh (66-78%), where 3-13% brides were bought. In Punjab also Watta-Satta was common (44-47%), where 0.5-4% brides were bought and 0.3-3% marriages were Budle-Sullah.
CONCLUSIONS: Since laws against these harmful customs exist but are not applied forcefully, there is a great need to create massive awareness against such customs.
METHODS: The MassARRAY genotyping was conducted in 1,394 Chinese, 406 Malay and 310 Indian breast cancer cases and 1,071 Chinese, 167 Malay and 255 Indian healthy controls. The association of individual variant with breast cancer risk was analyzed using logistic regression model adjusted for ethnicity, age and family history.
RESULTS: Our study confirmed BRCA2 p.Ile3412Val is presented in >2% of unaffected women and is likely benign, and BRCA2 p.Ala1996Thr which is predicted to be likely pathogenic by in-silico models is presented in 2% of healthy Indian women suggesting that it may not be associated with breast cancer risk. Single-variant analysis suggests that BRCA1 p.Arg762Ser may be associated with breast cancer risk (OR = 7.4; 95% CI, 0.9-62.3; p = 0.06).
CONCLUSIONS: Our study shows that BRCA2 p.Ile3412Val and p.Ala1996Thr are likely benign and highlights the need for population-specific studies to determine the likely functional significance of population-specific variants. Our study also suggests that BRCA1 p.Arg762Ser may be associated with increased risk of breast cancer but other methods or larger studies are required to determine a more precise estimate of breast cancer risk.
PURPOSE: The purpose of this observational study was to measure the prevalence of the presence of the anterior loop and to estimate sex and ethnicity-related variations in anterior loop length in the Malaysian population.
MATERIAL AND METHODS: A total of 100 cone beam computed tomography (CBCT) Digital Imaging and Communications in Medicine (DICOM) files were selected from a pool of 810 ongoing or completed patients in 3 different ethnic groups: Malay (33), Indian (33), and Chinese (34). The DICOM data were imported into commercial software. The IAN was traced with software along with the anterior loop and part of the incisive nerve. The vertical length of the nerve was estimated from the canal to the opening of the mental foramen from the cross-sectional view and translated to the panoramic view. Measurement was made from this point to the most anterior point of the anterior loop by following the trajectory of the nerve and was repeated on the opposite side. A 2-way mixed analysis of variance (ANOVA) test was carried out to evaluate the sex- and ethnicity-related variations (α=.05).
RESULTS: The anterior loop was present in 94% of the 100 participants. Overall anterior loop length (AnLL) ranged between 0.73 and 7.99 mm with a mean length of 3.69 ±1.75 mm on the left side and 3.85 ±1.73 mm on the right side. Among all participants, no statistically significant differences were found between the left and right sides of the mandible (P=.379). Overall, no significant main effect of ethnicity (P=.869) or sex (P=.576) was found on AnLL measurements. Also, with multiple comparisons, no significant effect was found between each pair of ethnic groups. Men in all 3 ethnic groups had greater AnLL than women.
CONCLUSIONS: The anterior loop was present in 94% of the 100 participants among the 3 major ethnic groups of Malaysia. Overall AnLL ranged between 0.73 and 7.99 mm and mean lengths of 3.69 ±1.75 mm on the left side and 3.85 ±1.73 mm on the right side, with no significant ethnicity- or sex-related variations.
PURPOSE: The purpose of this study was to determine esthetic perceptions of the Malaysian population regarding the width of buccal corridor spaces and their effect on smile esthetics in individuals with short, normal, and long faces.
MATERIAL AND METHODS: The image of a smiling individual with a mesofacial face was modified to create 2 different facial types (brachyfacial and dolicofacial). Each face form was further modified into 5 different buccal corridors (2%, 10%, 15%, 22%, and 28%). The images were submitted to 3 different ethnic groups of evaluators (Chinese, Malay, Indian; 100 each), ranging between 17 and 21 years of age. A visual analog scale (50 mm in length) was used for assessment. The scores given to each image were compared with the Kruskal-Wallis test, and pairwise comparison was performed using the Mann-Whitney U test (α=.05).
RESULTS: All 3 groups of evaluators could distinguish gradations of dark spaces in the buccal corridor at 2%, 10%, and 28%. Statistically significant differences were observed among 3 groups of evaluators in esthetic perception when pairwise comparisons were performed. A 15% buccal corridor was found to score esthetically equally within 3 face types by all 3 groups of evaluators. The Indian population was more critical in evaluation than the Chinese or Malay populations. In a pairwise comparison, more significant differences were found between long and short faces and the normal face; the normal face was compared with long and short faces separately.
CONCLUSIONS: The width of the buccal corridor space influences smile attractiveness in different facial types. A medium buccal corridor (15%) is the esthetic characteristic preferred by all groups of evaluators in short, normal, and long face types.
METHODS: A total of 61 individuals clinically diagnosed to have thalassemia were genotyped with multiplex amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Twenty-one major mutations were investigated using allele-specific primers grouped into six different panels.
RESULTS: The most common mutations found (23%) were IVS 1-5 (G-C) and Cd 26 (G-A) (HbE), followed by 619 deletion, Cd 8/9 (+G), Cd 16 (-C), Cd 41/42 (-TTCT), IVS 1-1 (G-T), Cd 19 (A-G), and Cd 17 (A-T) at 20%, 12%, 8%, 6%, 4%, 3%, and 1%, respectively.
CONCLUSION: The results of this study revealed that Nepal's mutational profile is comparable to that of its neighboring countries, such as India and Myanmar. This study also showed that thalassemia could be detected across 17 Nepal's ethnic groups, especially those whose ancestors originated from India and Central Asia.
METHODS: In this umbrella review, we searched four databases (Pubmed, Embase, the Cochrane Database of Systematic Reviews, and Epistemonikos) from database inception to April 2022. The methodological quality of each meta-analysis was assessed using the Assessment of Multiple Systematic Reviews, version 2 (AMSTAR-2). The strength of evidence of the associations between race and ethnicity with outcomes was ranked according to established criteria as convincing, highly suggestive, suggestive, weak, or non-significant. The study protocol was registered with PROSPERO, CRD42022336805.
RESULTS: Of 880 records screened, we selected seven meta-analyses for evidence synthesis, with 42 associations examined. Overall, 10 of 42 associations were statistically significant (p ≤ 0.05). Two associations were highly suggestive, two were suggestive, and two were weak, whereas the remaining 32 associations were non-significant. The risk of COVID-19 infection was higher in Black individuals compared to White individuals (risk ratio, 2.08, 95% Confidence Interval (CI), 1.60-2.71), which was supported by highly suggestive evidence; with the conservative estimates from the sensitivity analyses, this association remained suggestive. Among those infected with COVID-19, Hispanic individuals had a higher risk of COVID-19 hospitalization than non-Hispanic White individuals (odds ratio, 2.08, 95% CI, 1.60-2.70) with highly suggestive evidence which remained after sensitivity analyses.
CONCLUSION: Individuals of Black and Hispanic groups had a higher risk of COVID-19 infection and hospitalization compared to their White counterparts. These associations of race and ethnicity and COVID-19 outcomes existed more obviously in the pre-hospitalization stage. More consideration should be given in this stage for addressing health inequity.