2016
DOI: 10.1590/1516-4446-2016-1958
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Abstract: Objective: Recent genome-wide association studies have identified a significant relationship between the NT5C2 variant rs11191580 and schizophrenia (SCZ) in European populations. This study aimed to validate the association of rs11191580 polymorphism with SCZ risk in a South Chinese Han population. The relationship of this polymorphism with the severity of SCZ clinical symptoms was also explored. Methods: A case-control study was performed in 462 patients with SCZ and 598 healthy controls. rs11191580 was genot… Show more

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Cited by 9 publications
(5 citation statements)
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“…1). rs11191580 was first identified in a meta-analysis from 17 independent studies and confirmed within a validation set [19], and later in a South Chinese Han population [20] as well as for bipolar disorders in a Latino cohort [21]. rs11191580 was also confirmed in a meta-analysis, but the role of AS3MT through rs7085104 situated on the same locus was rather suggested as an important genetic variant in this study [22].…”
Section: Schizophreniasupporting
confidence: 57%
“…1). rs11191580 was first identified in a meta-analysis from 17 independent studies and confirmed within a validation set [19], and later in a South Chinese Han population [20] as well as for bipolar disorders in a Latino cohort [21]. rs11191580 was also confirmed in a meta-analysis, but the role of AS3MT through rs7085104 situated on the same locus was rather suggested as an important genetic variant in this study [22].…”
Section: Schizophreniasupporting
confidence: 57%
“…NT5C2 has also been shown to negatively regulate phosphorylation of the alpha subunit of 5’-adenosine monophosphate-activated protein kinase (AMPK alpha) and protein translation 52 . Studies in the Chinese Han population report that NT5C2 rs2148198 is associated with coronary heart disease susceptibility, and NT5C2 rs11191580 is associated with schizophrenia and symptom severity 53,54 . In addition, a zebrafish study provides evidence that NT5C2 and CNNM2 are most likely the causal genes within a blood pressure locus at the 10q24.32 55 .…”
Section: Discussionmentioning
confidence: 99%
“…NT5C2 encodes a hydrolase that serves an essential role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides [ 43 ]. This study detected significant association between rs11191580 and OW/OB in 12-month-old Chinese infants.…”
Section: Discussionmentioning
confidence: 99%