Abstract Objectives Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a significant genetic component, often linked to disruptions in the serotonergic system. The HTR2A gene, specifically the rs6313 (102T>C) polymorphism, is a primary candidate for investigating ASD susceptibility. The aim of this study is to investigate the association of rs6313 polymorphism with susceptibility to ASD in the Jordanian population. Methods In this case-control study, 99 Jordanian children with ASD and 109 neurotypical controls were genotyped using PCR-RFLP. Genotype and allele frequencies were analyzed under multiple genetic models. Results No statistically significant differences were found between cases and controls regarding genotype (p=0.54) or allele frequencies (p=0.3284). The distribution adhered to Hardy-Weinberg equilibrium in both groups. Conclusions Our findings suggest no significant association between the HTR2A rs6313 and ASD susceptibility in the Jordanian population. These results emphasize the need for larger, multi-marker studies to account for regional genetic diversity.
Wiam Khalil, Elaf Adel Al-Dalabeeh, M. Zihlif· Drug Metabolism and Personal...· 0 citations
BACKGROUND
The Cytochrome 4F2 (CYP4F2) rs2108622 genetic variant influences the production of 20-Hydroxyeicosatetraenoic acid (20-HETE), which affects the blood pressure. Previous findings from our group indicate that CYP4F2 rs2108622 genotype is associated with essential hypertension.
AIMS
This study aims to find out the association of CYP4F2 rs2108622 genotype with the response of valsartan and amlodipine among hypertensive patients.
METHODS
56 hypertensive patients on 80mg valsartan and 34 on 5mg amlodipine were genotyped for CYP4F2 rs2108622 genetic variant using PCR-RFLP method. The systolic (SBP) and diastolic (DBP) blood pressures data before and after one month antihypertensive treatment were collected from the computer record of the hospital. The patients were unrelated Arabs attending the University of Jordan Hospital.
RESULTS
We found that carriers of CYP4F2 rs2108622 CC genotype have greater reduction in SBP (mean difference -28.5±15.2 for valsartan and vs. -32.3±5.5mmHg for amlodipine) in comparison with CT and TT genotypes, this difference did not reach the statistical significance (P value> 0.05). Furthermore, the CYP4F2 rs2108622 genotype was not associated significantly (P value> 0.05) with valsartan and amlodipine responses after adjustment the responses with sex, BMI, age, and smoking status of the patients.
DISCUSSION
While there is a trend suggesting CYP4F2 rs2108622 CC genotype may respond better to valsartan and amlodipine responses, the absence of statistical significance supports the need for larger pharmacogenetic studies.
CONCLUSIONS
It can be concluded from the findings of this study that there is a lack of association between the CYP4F2 rs2108622 genotype and valsartan and amlodipine responses among a sample of Jordanians with essential hypertension.
Y. Jarrar, Enas Yousef Alkasasbeh, Dalia Abdelrazaq et al.· Prostaglandins & other lipid...· 0 citations