Association of HTR2A (rs6313) gene polymorphism with autism spectrum disorder in Jordanian children: a case-control study

Investigation of WNT2, DISC1, and DOCK4 polymorphisms in a Turkish autism spectrum disorder cohort: a case–control and bioinformatics analysis

Although no statistically significant genetic associations were identified in the present cohort, the bioinformatics findings suggest that these loci remain biologically relevant within Wnt-related pathways.

Rare VDR variant rs1338135647 and lower vitamin D levels in autism spectrum disorder: An exploratory case-control study in Indonesian children.

Lower vitamin D levels and the rare rs1338135647 variant may independently co-occur with ASD in Indonesian children; however, these hypothesis-generating findings require replication and functional validation in larger independent cohorts.

Haplotype-based association of HTR2A rs6311-rs6313 with early risperidone-clozapine response in Batak patients with schizophrenia.

BACKGROUND Risperidone-clozapine response varies substantially in schizophrenia. HTR2A polymorphisms may influence antipsychotic response, but rs6311-rs6313 haplotypes remain unexplored in the Indonesian Batak population. This study evaluated associations of HTR2A rs6311-rs6313 with early risperidone-clozapine response. METHODS This prospective observational case-control study included 160 Batak inpatients with schizophrenia, comprising 80 responders and 80 nonresponders to risperidone-clozapine therapy. Genetic analyses included Hardy-Weinberg equilibrium (HWE), minor allele frequency (MAF), linkage disequilibrium, genotype and allele association, haplotype, permutation testing, genetic models, and multivariable logistic regression. RESULTS Genotype distributions conformed to HWE (P > 0.05), with both variants showing a MAF of 0.28 and strong linkage disequilibrium (r2 = 0.969, D' = 0.98). The rs6311 GG/rs6313 CC genotype was significantly associated with nonresponse to risperidone-clozapine therapy [odds ratio (OR) = 3.69, 95% confidence interval (CI): 1.10-12.36; P = 0.034], while the rs6311 G/rs6313 C allele was also associated with nonresponse (OR = 1.71, 95% CI: 1.04-2.80; P = 0.034). The recessive model remained significant after multivariable adjustment (adjusted OR = 3.36, 95% CI: 1.02-11.07; P = 0.046). TA and CG haplotypes remained significant after 10 000 permutations (P = 0.0415 and P = 0.0416), whereas single-marker associations lost significance (P = 0.0607). CONCLUSION HTR2A variation was associated with early risperidone-clozapine response, with consistent signals under the recessive model and at the haplotype level. Haplotype associations remained significant after permutation correction, suggesting that haplotype analysis may provide a more robust approach for detecting pharmacogenetic contributions to treatment response.

Dopamine Receptor D2 gene Polymorphisms rs2005313, rs4274224, and rs4938019 in Pakistani Patients with Schizophrenia:a Diagnostic Tool for Schizophrenia

The research identified highly significant associations across multiple inheritance models, validating the technical robustness of the findings, and establish DRD2 intronic polymorphisms as critical determinants of schizophrenia risk.

Association of TCF7L2 and LEPR gene variants (rs7903146 and rs1137101) with primary knee osteoarthritis in a northern Mexican Mestizo population.

Lack of Association Between MIR155 Gene Variant rs767649 and Risk for Parkinson’s Disease

An important role of neuroinflammation in the pathogenesis of Parkinson’s disease (PD) has been proposed. Since some microRNAs (miRNAs), and miR-155 in particular, are involved in neuroinflammatory processes, a previous study reported an association between one of the most common single nucleotide variants (SNVs), rs767649, in the MIR155 gene, and risk for PD. The aim of the current study was to replicate this finding in a larger Spanish population case–control series. We analyzed genotype and allele frequencies of the MIR155 rs767649 SNV in a Spanish Caucasian cohort consisting of 459 PD patients and 460 age- and sex-matched healthy controls, using a TaqMan allelic discrimination assay specifically designed for rs767649. The genotype frequencies of the MIR155 rs767649, under codominant, dominant, recessive, and overdominant inheritance models, as well as allelic frequencies, showed no significant differences between PD patients and healthy controls. Likewise, the age at PD onset did not differ among the three MIR-155 rs767649 genotypes. These data did not identify a statistically significant association between MIR155 rs767649 variants and PD risk. However, the low frequency of the variant allele resulted in limited statistical power, and modest genetic effects cannot be excluded.