Most loci associated with type 2 diabetes mellitus (T2DM) discovered to date are within noncoding regions of unknown functional significance. By contrast, exonic regions have advantages for biological interpretation.

Most loci associated with type 2 diabetes mellitus (T2DM) discovered to date are within noncoding regions of unknown functional significance. By contrast, exonic regions have advantages for biological interpretation.

Background: Most loci associated with type 2 diabetes mellitus (T2DM) discovered to date are within noncoding regions of unknown functional significance. By contrast, exonic regions have advantages for biological interpretation. Methods: We analyzed the association of exome array data from 14,026 Koreans to identify susceptible exonic loci for T2DM. We used genotype information of 50,543 variants using the Illumina exome array platform. Results: In total, 7 loci were significant with a Bonferroni adjusted P=1.03×10–6 . rs2233580 in paired box gene 4 (PAX4) showed the highest odds ratio of 1.48 (P=1.60×10−10 ). rs11960799 in membrane associated ring-CH-type fin­ger 3 (MARCH3) and rs75680863 in transcobalamin 2 (TCN2) were newly identified loci. When we built a model to predict the incidence of diabetes with the 7 loci and clinical variables, area under the curve (AUC) of the model improved significantly (AUC=0.72, P<0.05), but marginally in its magnitude, compared with the model using clinical variables (AUC=0.71, P<0.05). When we divided the entire population into three groups—normal body mass index (BMI; <25 kg/m2 ), overweight (25≤ BMI <30 kg/m2 ), and obese (BMI ≥30 kg/m2 ) individuals—the predictive performance of the 7 loci was greatest in the group of obese individuals, where the net reclassification improvement was highly significant (0.51; P=8.00×10–5 ). Conclusion We found exonic loci having a susceptibility for T2DM. We found that such genetic information is advantageous for predicting T2DM in a subgroup of obese individuals.

A-kinase-anchoring proteins (AKAPs) are scaffold proteins which compartmentalize protein kinase A (PKA, cAMP-dependent protein kinase) and other enzymes to specific subcellular sites. The spatiotemporal control of these enzymes by AKAPs is important for cellular function like cell growth and development etc. Hence, it is important to understand the basic function of AKAPs and their functional domains. However, diverse names, function, cellular localizations and many members of AKAPs increase difficulties when researchers search appropriate AKAPs for their experimental purpose. Nevertheless, there was no previous AKAPs-related database regardless of their important cellular functions and difficulty of finding appropriate AKAPs. So, we developed AKAPs database (AKAPDB), which contains their sequence information, functions and other information derived from prediction programs and other databases. Therefore, we propose that AKAPDB can be an important tool to researchers in the related fields. AKAPDB is available via the internet at http://plaza3.snu.ac.kr/akapdb/
Cyclic AMP-Dependent Protein Kinases ; Growth and Development ; Internet ; Proteins

BACKGROUND/AIMS: The aims of this study were to determine subgoups of functional dyspesia and to evaluate the short-term effect of cisapride in patients with functional dyspepsia in Korea. METHODS: 1025 patients, with a mean age of 42.6 years, with symptoms of functional dyspepsia, were recruited consecutively and upper gastrointestinal symptoms were investigated by interview in 41 hospitals in Korea. In an open, multicenter trial, 1025 patients received Smg of cisapride three times a day (TID) for at least .2 weeks for the treatment of symptoms of functional dyspepsia. When necessary, the dose of cisapride was increased to 10mg TID and the duration of therapy was extended to 4 weeks. RESULTS: The most frequently reported symptoms of functional dyspepsia were epigastric discomfort or fullness (85%), bloating (70%), belching (53%), early satiety (52%) and epigastric pain (46%) retrospectively. Subgroups of functional dyspepsia were as follows; dysmotility-like 73.5%, ulcer-like 39.7%, reflux-like 13.0%, and unspecified dyspepsia 14.0%. However, 33.2% of subjects with functional dyspepsia could be classified into more than one subgroup. Upper gastrointestinal symptoms were decreased to average 50.3% (range; 42.2 to 59.2%) after 2 weeks of cisapride treatment and to 25% (19.2 to 29.9%) after 4 weeks. cisapride therapy resulted in good or excellent improvement in 59.0% of the patients after two weeks, in 75% of patients after 4 weeks. Adverse events were occurred in 52 patients (5.8% of all patients), most commonly, loose stools or diarrhea (3.5%), abdominal pain (1.1%), and dizziness (0.3%). The majority of adverse events was mild and transient in nature and led to premature discontinuation of treatment in 4 patients. CONCLUSIONS: Although the majorities of patients with functional dyspepsia have dysmotility like symptoms in Korea, there is such overlap among the dyspepsia subgroups. Most patients responded well to a short therapeutic trial with cisapride without significant side effects.
Abdominal Pain ; Cisapride* ; Diarrhea ; Dizziness ; Dyspepsia* ; Eructation ; Humans ; Korea* ; Retrospective Studies