Dataset Information

RHCEE* and RHCEe* genotype incompatibility in a southern Thai Muslim population.

ABSTRACT:

Context

The formation of red cell alloantibodies resulting from both transfusion and pregnancy can cause adverse effects from allogeneic blood transfusions. Alloanti-E is commonly detected among Thai and Asian populations.

Aims

This study aimed to determine RHCE*E and RHCE*e genotype incompatibility in a southern Thai Muslim population and to compare it with those previously reported for other populations.

Subjects and methods

Nine hundred and twenty-seven DNA samples obtained from 427 unrelated healthy blood donors from southern Thai Muslims and 500 samples from Central Thais were included. Samples were genotyped for RHCE*E and RHCE*e using an in-house polymerase chain reaction with the sequence-specific primer technique.

Results

Significant differences were found when we compared the allele frequencies of the RHCE*E and RHCE*e between southern Thai Muslims and Central Thais: RHCE*E 0.162 versus 0.197 and RHCE*e 0.838 versus 0.803 and also found in Chinese, American native, Japanese, Korean, Alaskan native, Hawaiian, South Asian, Brazilian Japanese-descendant, and Malay Malaysian populations (P < 0.05). In addition, the E/e incompatibilities among southern Thai Muslims and Central Thais were 24.23% and 26.71%, respectively.

Conclusions

This study was the first to determine the RHCE*E and RHCE*e genotype incompatibility among southern Thai Muslims, enabling the estimation of their potential alloimmunization risk. These data could be useful to provide safe blood transfusions across ethnic populations.

SUBMITTER: Tanwarawutthikul P

PROVIDER: S-EPMC9528552 | biostudies-literature | 2022 Jan-Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

<i>RHCEE</i> and <i>RHCEe</i> genotype incompatibility in a southern Thai Muslim population.

Tanwarawutthikul Poonyapa P Intharanut Kamphon K Mitundee Supattra S Nathalang Oytip O

Asian journal of transfusion science 20220101 1

<h4>Context</h4>The formation of red cell alloantibodies resulting from both transfusion and pregnancy can cause adverse effects from allogeneic blood transfusions. Alloanti-E is commonly detected among Thai and Asian populations.<h4>Aims</h4>This study aimed to determine <i>RHCE*E</i> and <i>RHCE*e</i> genotype incompatibility in a southern Thai Muslim population and to compare it with those previously reported for other populations.<h4>Subjects and methods</h4>Nine hundred and twenty-seven DNA ...[more]

PMID: 36199395

Similar Datasets

Project description:ObjectivesThis study aimed to explore the prevalence of medication non-adherence and influence of symptom perception and various barriers on medication adherence among Thai Muslim patients in a rural subdistrict of southern Thailand.DesignExplanatory sequential mixed-methods approach.SettingA rural community in southern Thailand.MethodsData collection spanned from March to December 2023. In the quantitative phase, 138 Muslim patients diagnosed with non-communicable diseases were enrolled, and their medication adherence and associated factors were assessed. In the qualitative phase, 22 participants were selected for in-depth interviews, and their symptom perceptions and the obstacles they faced in adhering to medication were explored. A focus group discussion involving 10 healthcare workers from a subdistrict health-promoting hospital was conducted to gain insights into healthcare providers' perspectives on patients' perceptions of symptoms and barriers to medication adherence.Outcome measuresMedication non-adherence was assessed, and the influence of symptom perception and various barriers on medication adherence was evaluated RESULTS: The prevalence of medication non-adherence in the study sample was 75.36%. The following factors were significantly associated with medication non-adherence: occupation (farmer) (adjusted OR=3.93; 95% CI 1.04 to 12.64), lack of recommendations on adjusting medication schedules/dosages during Ramadan (adjusted OR=2.65; 95% CI 1.06 to 6.61) and patients' perception of no symptoms (adjusted OR=3.72; 95% CI 1.23 to 11.25). The qualitative analysis highlighted patient-related issues, such as lack of symptom perception, limited health literacy regarding disease information and treatment and personal reasons for non-adherence (eg, forgetfulness, occupational constraints and transportation challenges for medical appointments). Additionally, healthcare system-related factors, patient-doctor relationships and communication gaps in medication management during Ramadan were identified as factors influencing medication non-adherence.ConclusionsTo improve adherence, healthcare providers should prioritise fostering positive patient-provider relationships and promoting patient care through enhanced health literacy initiatives.

Project description:Recently, the Clinical Pharmacogenetics Implementation Consortium (CPIC) have revised recommendations for the translation of CYP2D6 genotype to phenotype. Changes affect phenotype grouping, as well as the value used to calculate activity score for the CYP2D6*10 allele to better reflect the substantially decreased activity of this allele which is the most frequent allele found in Asian populations. This study aimed to evaluate whether the lower value for CYP2D6*10 as recommended, and the revised phenotype groupings improve the relationship between CYP2D6 genotype and risperidone measures. One hundred and ninety-nine children and adolescents with autism treated with a risperidone-based regimen for at least four weeks were included. CYP2D6 genotype was determined using the Luminex xTAG CYP2D6 Kit assay and translated into phenotype using different translation methods. Plasma concentrations of risperidone and 9-hydroxyrisperidone were measured using LC/MS/MS. Plasma levels of risperidone, risperidone concentration/dose ratio, and risperidone/9-hydroxyrisperidone ratio in patients with an activity score < 1 were significantly higher than those ≥ 1 (P value < 0.001 for all three parameters). Plasma risperidone levels and risperidone concentration/dose ratios were significantly higher in intermediate metabolizers (defined as AS = 0.25-0.75) than normal metabolizer (defined as AS = 1-2) patients (1.44 vs. 0.23 ng/ml, P < 0.001 and 1.63 vs. 0.29 ng/ml/ng, P < 0.001, respectively) as well as risperidone/9-hydroxyrisperidone ratio (0.20 vs. 0.04, P < 0.001). This is the first study in an Asian population utilizing the revised CPIC-recommended method for translating the CYP2D6 genotype to phenotype. In addition to validating that CYP2D6 genetic variation significantly impacts risperidone metabolism, we demonstrated that revised value for the CYP2D6*10 was superior for genotype to phenotype translation. However, at least for risperidone, subjects with an activity score of 1 presented as phenotypic normal, and not intermediate metabolizers, suggesting that phenotype classification is substrate dependent.

Project description:Copy number variation (CNV) is a major genetic polymorphism contributing to genetic diversity and human evolution. Clinical application of CNVs for diagnostic purposes largely depends on sufficient population CNV data for accurate interpretation. CNVs from general population in currently available databases help classify CNVs of uncertain clinical significance, and benign CNVs. Earlier studies of CNV distribution in several populations worldwide showed that a significant fraction of CNVs are population specific. In this study, we characterized and analyzed CNVs in 3,017 unrelated Thai individuals genotyped with the Illumina Human610, Illumina HumanOmniexpress, or Illumina HapMap550v3 platform. We employed hidden Markov model and circular binary segmentation methods to identify CNVs, extracted 23,458 CNVs consistently identified by both algorithms, and cataloged these high confident CNVs into our publicly available Thai CNV database. Analysis of CNVs in the Thai population identified a median of eight autosomal CNVs per individual. Most CNVs (96.73%) did not overlap with any known chromosomal imbalance syndromes documented in the DECIPHER database. When compared with CNVs in the 11 HapMap3 populations, CNVs found in the Thai population shared several characteristics with CNVs characterized in HapMap3. Common CNVs in Thais had similar frequencies to those in the HapMap3 populations, and all high frequency CNVs (>20%) found in Thai individuals could also be identified in HapMap3. The majorities of CNVs discovered in the Thai population, however, were of low frequency, or uniquely identified in Thais. When performing hierarchical clustering using CNV frequencies, the CNV data were clustered into Africans, Europeans, and Asians, in line with the clustering performed with single nucleotide polymorphism (SNP) data. As CNV data are specific to origin of population, our population-specific reference database will serve as a valuable addition to the existing resources for the investigation of clinical significance of CNVs in Thais and related ethnicities.

Dataset Information

RHCEE* and RHCEe* genotype incompatibility in a southern Thai Muslim population.

Context

Aims

Subjects and methods

Results

Conclusions

Publications

<i>RHCEE</i> and <i>RHCEe</i> genotype incompatibility in a southern Thai Muslim population.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets

Dataset Information

RHCE*E and RHCE*e genotype incompatibility in a southern Thai Muslim population.

Context

Aims

Subjects and methods

Results

Conclusions

Publications

<i>RHCE*E</i> and <i>RHCE*e</i> genotype incompatibility in a southern Thai Muslim population.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets

RHCEE* and RHCEe* genotype incompatibility in a southern Thai Muslim population.

<i>RHCEE</i> and <i>RHCEe</i> genotype incompatibility in a southern Thai Muslim population.