rs680055
This is a variant in the CYP3A43 gene that changes a proline to an alanine.
▶ClinVar annotation
▶Research that mentions this SNP (4)
▶Association between variants in vitamin D‐binding protein gene and vitamin D deficiency among pregnant women in chinaAssociationN=815Jinju Dong et al.(2020)· Journal of Clinical Laboratory Analysis
This case-control association study of 815 Chinese pregnant women identified five SNPs in the GC (vitamin D-binding protein) gene significantly associated with serum 25-hydroxyvitamin D concentration: rs17467825, rs4588, rs2282679, rs2298850, and rs1155563. Mean 25(OH)D level was 15.67±7.98 ng/mL with 75% prevalence of deficiency. An XGBoost model incorporating these SNPs plus environmental factors achieved AUC 0.828 for predicting 25(OH)D deficiency risk. The study suggests maternal vitamin D deficiency may increase macrosomia risk (12 of 16 macrosomic infants had deficient mothers).
▶Influence of neurexin 1 (NRXN1) polymorphisms in clozapine responseReviewRenan P. Souza et al.(2010)· Human Psychopharmacology: Clinical and Experimental
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.
▶Lack of association of GPX1 and MnSOD genes with symptom severity and response to clozapine treatment in schizophrenia subjectsReviewRenan P. Souza et al.(2009)· Human Psychopharmacology: Clinical and Experimental
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.
▶Joint effects of inflammation and androgen metabolism on prostate cancer severityAssociationN=1,090Rebbeck TR et al.(2008)· International Journal of Cancer
A case-control study of 1,090 Caucasian prostate cancer cases examined interactions between genes involved in androgen metabolism/inflammation and benign prostatic hyperplasia (BPH) history on prostate cancer severity. Significant interactions were observed with CYP3A43 P340A (rs680055) and BPH on both Gleason grade (OR=1.82, 95% CI: 1.15–2.87; interaction p=0.026) and tumor stage (OR=3.50, 95% CI: 1.21–10.17; interaction p=0.017), suggesting that androgen metabolism and inflammatory phenotypes act together in determining prostate cancer severity.
About CYP3A43
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein has a low level of testosterone hydroxylase activity, and may play a role in aging mechanisms and cancer progression. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
View all CYP3A43 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…