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Fulltext Anthropometric analysis of mandible: an important step for sex determination

Alias A, Ibrahim A, Abu Bakar SN, Swarhib Shafie M, Das S, Abdullah N, et al.

Clin Ter, 2018 11 6;169(5):e217-e223.
PMID: 30393808 DOI: 10.7417/CT.2018.2082

INTRODUCTION: The first step in the forensic identification is sex determination followed by age and stature estimation, as both are sex-dependent. The mandible is the largest, strongest and most durable bone in the face. Mandible is important for sex confirmation in absence of a complete pelvis and skull.
AIM: The aim of the present study was to determine sex of human mandible from morphology, morphometric measurements as well as discriminant function analysis from the CT scan.
MATERIALS AND METHODS: The present retrospective study comprised 79 subjects (48 males, 31 females), with age group between 18 and 74 years, and were obtained from the post mortem computed tomography data in the Hospital Kuala Lumpur. The parameters were divided into three morphologic and nine morphometric parameters, which were measured by using Osirix MD Software 3D Volume Rendering.
RESULTS: The Chi-square test showed that men were significantly association with square-shaped chin (92%), prominent muscle marking (85%) and everted gonial glare, whereas women had pointed chin (84%), less prominent muscle marking (90%) and inverted gonial glare (80%). All parameter measurements showed significantly greater values in males than in females by independent t-test (p< 0.01). By discriminant analysis, the classification accuracy was 78.5%, the sensitivity was 79.2% and the specificity was 77.4%. The discriminant function equation was formulated based on bigonial breath and condylar height, which were the best predictors.
CONCLUSION: In conclusion, the mandible could be distinguished according to the sex. The results of the study can be used for identification of damaged and/or unknown mandible in the Malaysian population.
A study on the genetic polymorphisms of CYP3A5 among the Orang Asli in Malaysia using a next generation sequencing platform

Ang GY, Yu CY, Johari James R, Ahmad A, Abdul Rahman T, Mohd Nor F, et al.

Ann Hum Biol, 2018 Mar;45(2):166-169.
PMID: 29447003 DOI: 10.1080/03014460.2018.1440004

BACKGROUND: CYP3A5 is the predominant sub-family of biotransformation enzymes in the liver and the genetic variations in CYP3A5 are an important determinant of inter-individual and inter-ethnic differences in CYP3A-mediated drug disposition and response.
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.
Inference of the Genetic Polymorphisms of CYP2D6 in Six Subtribes of the Malaysian Orang Asli from Whole-Genome Sequencing Data

Yu CY, Ang GY, Subramaniam V, Johari James R, Ahmad A, Abdul Rahman T, et al.

Genet Test Mol Biomarkers, 2017 Jul;21(7):409-415.
PMID: 28525288 DOI: 10.1089/gtmb.2016.0235

AIMS: CYP2D6 is one of the major enzymes in the cytochrome P450 monooxygenase system. It metabolizes ∼25% of prescribed drugs and hence, the genetic diversity of a CYP2D6 gene has continued to be of great interest to the medical and pharmaceutical industries. This study was designed to perform a systematic analysis of the CYP2D6 gene in six subtribes of the Malaysian Orang Asli.
METHODS: Genomic DNAs were extracted from the blood samples followed by whole-genome sequencing. The reads were aligned to the reference human genome hg19 and variants in the CYP2D6 gene were analyzed. CYP2D6*5 and duplication of CYP2D6 were analyzed using previously established methods.
RESULTS: A total of 72 single nucleotide polymorphisms were identified. CYP2D6*1, *2, *4, *5, *10,*41, and duplication of the gene were found in the Orang Asli, whereby CYP2D6*2 and *41 alleles are reported for the first time in the Malaysian population.
CONCLUSION: The findings in this study provide insights into the genetic polymorphisms of CYP2D6 in the Orang Asli of Peninsular Malaysia.
Erratum to: Differential positive selection of malaria resistance genes in three indigenous populations of Peninsular Malaysia

Liu X, Yunus Y, Lu D, Aghakhanian F, Saw WY, Deng L, et al.

Hum Genet, 2015 Jun;134(6):677.
PMID: 25783005 DOI: 10.1007/s00439-015-1540-y
Fulltext Detection of CYP2C19 Genetic Variants in Malaysian Orang Asli from Massively Parallel Sequencing Data

Ang GY, Yu CY, Subramaniam V, Abdul Khalid MI, Tuan Abdu Aziz TA, Johari James R, et al.

PLoS One, 2016;11(10):e0164169.
PMID: 27798644 DOI: 10.1371/journal.pone.0164169

The human cytochrome P450 (CYP) is a superfamily of enzymes that have been a focus in research for decades due to their prominent role in drug metabolism. CYP2C is one of the major subfamilies which metabolize more than 10% of all clinically used drugs. In the context of CYP2C19, several key genetic variations that alter the enzyme's activity have been identified and catalogued in the CYP allele nomenclature database. In this study, we investigated the presence of well-established variants as well as novel polymorphisms in the CYP2C19 gene of 62 Orang Asli from the Peninsular Malaysia. A total of 449 genetic variants were detected including 70 novel polymorphisms; 417 SNPs were located in introns, 23 in upstream, 7 in exons, and 2 in downstream regions. Five alleles and seven genotypes were inferred based on the polymorphisms that were found. Null alleles that were observed include CYP2C19*3 (6.5%), *2 (5.7%) and *35 (2.4%) whereas allele with increased function *17 was detected at a frequency of 4.8%. The normal metabolizer genotype was the most predominant (66.1%), followed by intermediate metabolizer (19.4%), rapid metabolizer (9.7%) and poor metabolizer (4.8%) genotypes. Findings from this study provide further insights into the CYP2C19 genetic profile of the Orang Asli as previously unreported variant alleles were detected through the use of massively parallel sequencing technology platform. The systematic and comprehensive analysis of CYP2C19 will allow uncharacterized variants that are present in the Orang Asli to be included in the genotyping panel in the future.