SYNGR1 – Bipolar Disorder

In a case–control cohort of 198 bipolar disorder patients and 107 controls from southern India, sequence analysis of all exons and flanking intronic regions of SYNGR1 identified a novel Lys99Glu missense variant in one patient and two common polymorphisms (Ser97Ser and an Asn insertion/deletion), with allelic associations observed for five SNPs (P = 0.028–0.00007) (PMID:16215643). No multi-family segregation data are available and the single occurrence of Lys99Glu limits variant-level evidence. A subsequent study in a Han Chinese bipolar cohort (n = 506) and 507 controls found no significant association for SYNGR1 polymorphisms (PMID:19665806), challenging reproducibility across populations. No functional assays specific to bipolar-related variants have been reported, although in silico predictions suggest potential impact on synaptic vesicle regulation. Together, these data constitute limited genetic support for SYNGR1 as a bipolar disorder susceptibility gene, requiring further replication in larger cohorts and mechanistic validation. Key take-home: SYNGR1 harbors preliminary association signals in bipolar disorder but lacks robust replication and functional confirmation, precluding current clinical diagnostic application.

References

• Journal of human genetics • 2005 • SYNGR1 is associated with schizophrenia and bipolar disorder in southern India. PMID:16215643
• Psychiatry research • 2009 • No association between bipolar disorder and syngr1 or synapsin II polymorphisms in the Han Chinese population. PMID:19665806

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