hSKCa3

Rohrmeier, Thomas; Putzhammer, Albert; Schoeler, A.; Sartor, Heino; Dallinger, P.; Mm, Nöthen; Propping, Peter; Knapp, Michael; Albus, Margot; Borrmann, M.; Knothe, K; Kreiner, R.; Franzek, Ernst; Lichtermann, Dirk; Rietschel, Marcella; Maier, Wolfgang; He, Klein; Eichhammer, Peter

doi:10.1097/00041444-199912000-00001

Cited by 14 publications

(3 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The highly polymorphic CAG-repeat array in exon 1 had been implicated in BP (Chandy et al, 1998; Wittekindt et al, 1998; Hawi et al, 1999; McInnis et al, 1999; Rohrmeier et al, 1999). However, a meta-analysis of pooled evidence from these individual studies was null (Glatt et al, 2003).…”

Section: Genetic Findings With Potassium Ion Channelsmentioning

confidence: 99%

A review of potassium channels in bipolar disorder

Judy¹,

Zandi²

2013

Front. Genet.

View full text Add to dashboard Cite

Although bipolar disorder (BP) is one of the most heritable psychiatric conditions, susceptibility genes for the disorder have yet to be conclusively identified. It is likely that variants in multiple genes across multiple pathways contribute to the genotype–phenotype relationship in the affected population. Recent evidence from genome-wide association studies implicates an entire class of genes related to the structure and regulation of ion channels, suggesting that the etiology of BP may arise from channelopathies. In this review, we examine the evidence for this hypothesis, with a focus on the potential role of voltage-gated potassium channels. We consider evidence from genetic and expression studies, and discuss the potential underlying biology. We consider animal models and treatment implications of the involvement of potassium ion channelopathy in BP. Finally, we explore intriguing parallels between BP and epilepsy, the signature channelopathy of the central nervous system.

show abstract

Section: Genetic Findings With Potassium Ion Channelsmentioning

confidence: 99%

A review of potassium channels in bipolar disorder

Judy¹,

Zandi²

2013

Front. Genet.

View full text Add to dashboard Cite

show abstract

“…The application of these criteria yielded 23 studies eligible for metaanalysis. The 14 case-control studies provided data on 11 schizophrenia samples and 6 bipolar disorder groups Wittekindt et al, 1998;BonnetBrilhault et al, 1999;Dror et al, 1999;Guy et al, 1999;Hawi et al, 1999;Joober et al, 1999;Rohrmeier et al, 1999;Tsai et al, 1999;Bowen et al, 2000;Saleem et al, 2000;Imamura et al, 2001;Meira-Lima et al, 2001;Laurent et al, 2003], while the 10 family-based studies documented 7 schizophrenia samples and 3 bipolar disorder groups [Li et al, 1998;Stober et al, 1998;Antonarakis et al, 1999;McInnis et al, 1999;Meissner et al, 1999;Rohrmeier et al, 1999;Wittekindt et al, 1999;Bowen et al, 2000;Chowdari et al, 2000;Laurent et al, 2003]. …”

Section: Inclusion Criteriamentioning

confidence: 99%

CAG‐Repeat length in exon 1 of KCNN3 does not influence risk for schizophrenia or bipolar disorder: A meta‐analysis of association studies

Glatt

Faraone

Tsuang

2003

American J of Med Genetics Pt B

View full text Add to dashboard Cite

Schizophrenia and bipolar disorder both show some evidence for genetic anticipation. In addition, significant expansion of anonymous CAG repeats throughout the genome has been detected in both of these disorders. The gene KCNN3, which codes for a small/intermediate conductance, calcium-regulated potassium channel, contains a highly polymorphic CAG-repeat array in exon 1. Initial evidence for association of both schizophrenia and bipolar disorder with increased CAG-repeat length of KCNN3 has not been consistently replicated. In the present study, we performed several meta-analyses to evaluate the pooled evidence for association with CAG-repeat length of KCNN3 derived from case-control and family-based studies of both disorders. Each group of studies was analyzed under two models, including a test for direct association with repeat length, and a test for association with dichotomized repeat-length groups. No evidence for a linear relationship between disease risk and repeat length was observed, as all pooled odds ratios approximated 1.0. Results of dichotomized allele-group analyses were more variable, especially for schizophrenia, where case-control studies found a significant association with longer repeats but family-based studies implicated shorter alleles. The results of these meta-analyses demonstrate that the risks for both schizophrenia and bipolar disorder are largely, if not entirely, independent of CAG-repeat length in exon 1 of KCNN3. This study cannot exclude the possibility that some aspect of this polymorphism, such as repeat-length disparity in heterozygotes, influences risk for these disorders. Further, it remains unknown if this polymorphism, or one in linkage disequilibrium with it, contributes to some distinct feature of the disorder, such as symptom severity or anticipation.

show abstract

“…Moderately expanded CAG repeats within the KCNN3 have been also demonstrated in patients with ataxia [Figueroa et al, 2001]. In spite of the above-mentioned studies, which support KCNN3 contribution to major psychoses, numbers of attempts to reproduce these results in other populations have been inconclusive [Li et al, 1998;Antonarakis et al, 1999;Hawi et al, 1999;Rohrmeier et al, 1999;Tsai et al, 1999;Ujike et al, 2001;Laurent et al, 2003].…”

Section: Introductionmentioning

confidence: 99%

CAG repeat polymorphism within the KCNN3 gene is a significant contributor to susceptibility to anorexia nervosa: A case‐control study of female patients and several ethnic groups in the Israeli Jewish population

Koronyo‐Hamaoui

Gak

Stein

et al. 2004

American J of Med Genetics Pt B

View full text Add to dashboard Cite

The human small-conductance Ca(2+)-activated potassium channel gene KCNN3 has been involved in mechanisms underlying neuronal function and plasticity. A multiallelic CAG repeat polymorphism within the KCNN3 has been associated with schizophrenia and bipolar disorder. We have previously reported in a family-based study that longer CAG repeats are preferentially transmitted to patients with anorexia nervosa (AN). The present study extends the analysis of KCNN3 allele distribution to a larger series of AN female patients and control groups, incorporating information on ethnicity and co-morbidities associated with AN. The data analysis is presented while considering separately the two alleles of each individual, namely a minor (shorter) and a major (longer) allele. This study has found that the KCNN3 allele distribution in the general Israeli population does not differ significantly in at least four Jewish ethnic groups of Ashkenazi, North African, Iraqi, and Yemenite origin. These have been used as control groups in a matched case-control analysis that has demonstrated a significant over-representation of KCNN3 alleles with longer CAG repeats among AN patients (P < 0.001 for the major allele and P = 0.035 for allele sum). Under dichotomization, a significantly higher prevalence of the L allele (>19 repeats) has been observed among AN patients (P < 0.001). While considering AN and co-morbid phenotypes, a tendency towards longer (L) alleles has been observed in the subset of patients with obsessive-compulsive disorder (OCD) co-morbidity. These findings further implicate KCNN3 as a significant contributor to predisposition to AN.

show abstract

hSKCa3

Cited by 14 publications

References 0 publications

A review of potassium channels in bipolar disorder

A review of potassium channels in bipolar disorder

CAG‐Repeat length in exon 1 of KCNN3 does not influence risk for schizophrenia or bipolar disorder: A meta‐analysis of association studies

CAG repeat polymorphism within the KCNN3 gene is a significant contributor to susceptibility to anorexia nervosa: A case‐control study of female patients and several ethnic groups in the Israeli Jewish population

Contact Info

Product

Resources

About