rs4646312

This nested case-control study of 361 women with advanced serous epithelial ovarian cancer (102 incomplete responders, 259 complete responders) identified germline STAT3 polymorphisms as predictors of unfavorable response to first-line platinum-based chemotherapy. The lead STAT3 SNP rs62075772 showed the strongest association with treatment resistance (OR 2.24, 95% CI 1.32-3.78, p=0.0027), and STAT3 was significantly associated at the gene level (p=0.006 by admixture maximum likelihood test).

This population-based study of 3,904 subjects examined the interaction between COMT and TXNRD2 SNPs and temporomandibular disorder (TMD) pain, modified by depressive symptoms. Six SNPs from the first COMT/TXNRD2 haploblock showed significant interactions with depressive symptoms (smallest p-value: 2.7 × 10^-10), with opposite SNP effects between depressed and non-depressed individuals. In non-depressed subjects, rs5993882 (COMT) was most associated with TMD pain, while in depressed subjects, rs1544325 (COMT) and TXNRD2 SNPs were preferentially associated. The findings indicate that COMT polymorphisms affect pain perception through a mechanism significantly moderated by depressive symptoms.

This systematic review of 98 studies examined biological predictors of clozapine response in treatment-resistant schizophrenia patients. Of 379 different gene variants investigated across 70 genetic studies, only three variants (DRD3 Ser9Gly rs6280, HTR2A His452Tyr, and GNB3 C825T) achieved independent replication. Non-genetic predictors included higher prefrontal cortical volumes and lower HVA:5-HIAA ratio in cerebrospinal fluid.

A systematic review of 98 studies investigating biological predictors of clozapine response in treatment-resistant schizophrenia. Of 70 genetic studies examining 379 variants, only three genetic variants have independently replicated findings: DRD3 Ser9Gly (rs6280), HTR2A His452Tyr, and GNB3 C825T (rs5442/rs5443). Non-genetic predictors include higher prefrontal cortical structural integrity and activity, and lower HVA:5-HIAA ratio in cerebrospinal fluid.

This association study examined 28 SNPs across 14 dopamine pathway candidate genes in 403 families with autism to test the hypothesis that common genetic variation in dopamine metabolism contributes to autism susceptibility. While rs2239535 (YWHAB, chromosome 20) showed the strongest nominally significant association (p=0.008), this did not remain significant after correction for multiple comparisons, and no significant gene-gene interactions were detected using Multifactor Dimensionality Reduction analysis.