Catamenial hemoptysis is a rare condition, characterized by recurrent hemoptysis associated with the presence of intrapulmonary or endobronchial endometrial tissue. Therapeutic strategies proposed for intrapulmonary endometriosis with catamenial hemoptysis consist of medical treatments and surgery. Bronchial artery embolization is a well-established modality in the management of massive or recurrent hemoptysis, but has seldom been used for the treatment of catamenial hemoptysis. We report a case of catamenial hemoptysis associated with pulmonary parenchymal endometriosis, which was successfully treated by a bronchial artery embolization.
Endometriosis; Hemoptysis; Embolization, Therapeutic
The multidrug resistance protein 2 (MRP2, ABCC2) gene may determine individual susceptibility to adverse drug reactions (ADRs) in the central nervous system (CNS) by limiting brain access of antiepileptic drugs, especially valproic acid (VPA). Our objective was to investigate the effect of ABCC2 polymorphisms on ADRs caused by VPA in Korean epileptic patients. We examined the association of ABCC2 single-nucleotide polymorphisms and haplotype frequencies with VPA related to adverse reactions. In addition, the association of the polymorphisms with the risk of VPA related to adverse reactions was estimated by logistic regression analysis. A total of 41 (24.4%) patients had shown VPA-related adverse reactions in CNS, and the most frequent symptom was tremor (78.0%). The patients with CNS ADRs were more likely to have the G allele (79.3% vs. 62.7%, p = 0.0057) and the GG genotype (61.0% vs. 39.7%, p = 0.019) at the g.-1774delG locus. The frequency of the haplotype containing g.-1774Gdel was significantly lower in the patients with CNS ADRs than without CNS ADRs (15.8% vs. 32.3%, p = 0.0039). Lastly, in the multivariate logistic regression analysis, the presence of the GG genotype at the g.-1774delG locus was identified as a stronger risk factor for VPA related to ADRs (odds ratio, 8.53; 95% confidence interval, 1.04 to 70.17). We demonstrated that ABCC2 polymorphisms may influence VPA-related ADRs. The results above suggest the possible usefulness of ABCC2 gene polymorphisms as a marker for predicting response to VPA-related ADRs.
drug toxicity; epilepsy; genetic polymorphism; MRP2; valproic acid
Overactive bladder (OAB) is a manifestation of urgency, regardless of urge incontinence, due to involuntary bladder contraction during the storage period. There is a close association between constipation and OAB, but constipation cannot be readily diagnosed. The aims of this study were to evaluate the prevalence of constipation in OAB and the consequent therapeutic effects according to the diagnostic criteria for constipation.
We collected clinical data from 40 children (mean age, 71±22 months) with chief complaints of urgency, frequency, and incontinence. A voiding questionnaire and a 2-day voiding diary were collected, and urinalysis, the Bristol stool scale, and plain abdominal radiography were performed. Constipation was defined as conditions satisfying at least one of the following criteria: Rome III diagnostic criteria, Bristol stool scale types I/II, or a Leech score higher than 8 points as determined by plain radiography. Lower urinary tract symptoms, defecation symptoms, and the bladder volume of patients were examined, and the therapeutic outcomes by constipation diagnostic criteria were evaluated.
Of the 40 OAB patients, 25 had constipation. Among them, 6 had reduced functional bladder capacity (24%; P>0.05). Regarding treatment, in patients who satisfied only one diagnostic criterion, the symptoms improved in 76.9%, 76.9%, and 69.6% of patients meeting the Rome III criteria, Bristol stool scale, and Leech score, respectively (P<0.05). Among the 8 patients satisfying all three criteria, 75% responded to treatment (P<0.05).
The prevalence of constipation in OAB is high. Constipated patients recruited by use of the Rome III criteria, Bristol scale, and Leech score alone and together showed similar outcomes on OAB improvement after the treatment of constipation, which implies that each criterion has the same strength and can be applied comprehensively and generally.
Overactive urinary bladder; Pediatrics; Constipation
Enteropathy-associated T-cell lymphoma (EATL) is an extremely rare disease, which is often related to gluten-sensitive enteropathy. It is an uncommon intestinal lymphoma with very poor prognosis and high mortality rate. In the absence of specific symptoms or radiological findings, it is difficult to diagnose early. Major complications of EATL have been known as intestinal perforation or obstruction, and only 5 cases of EATL are reported in South Korea. In this study, we report a case of 71-year-old male with symptoms of diarrhea, which later it progressed into cancer perforation of the colon. The initial colonoscopic findings were normal and computed tomography scan demonstrated a segmental wall thickening of the distal ascending colon with nonspecific multiple small lymphnodes, along the ileocolic vessels, but no signs of mass or obstruction. The histologic findings of resected specimen confirmed EATL type II. Patient expired two weeks after the operation. Therefore, we emphasize the need of random biopsy in the presence of normal mucosa appearance on colonoscopy for the early diagnosis of EATL.
Enteropathy-associated T-cell lymphoma type II; Intestinal perforation; Gastrointestinal lymphoma; Celiac disease
We aimed to investigate whether combination therapy using intracoronary (IC) abciximab and aspiration thrombectomy (AT) enhances myocardial perfusion compared to each treatment alone in patients with ST-elevation myocardial infarction (STEMI) undergoing primary percutaneous coronary intervention (PCI).
Materials and Methods
We enrolled 40 patients with STEMI, who presented within 6 h of symptom onset and had Thrombolysis in MI flow 0/1 or a large angiographic thrombus burden (grade 3/4). Patients were randomly divided into 3 groups: 10 patients who received a bolus of IC abciximab (0.25 mg/kg); 10 patients who received only AT; and 20 patients who received both treatments. The index of microcirculatory resistance (IMR) was measured with a pressure sensor/thermistor-tipped guidewire following successful PCI. Microvascular obstruction (MVO) was assessed using cardiac magnetic resonance imaging on day 5.
IMR was lower in the combination group than in the IC abciximab group (23.5±7.4 U vs. 66.9±48.7 U, p=0.001) and tended to be lower than in the AT group, with barely missed significance (23.5±7.4 U vs. 37.2±26.1 U, p=0.07). MVO was observed less frequently in the combination group than in the IC abciximab group (18.8% vs. 88.9%, p=0.002) and tended to occur less frequently than in the AT group (18.8% vs. 66.7%, p=0.054). No difference of IMR and MVO was found between the IC abciximab and the AT group (66.9±48.7 U vs. 37.2±26.1 U, p=0.451 for IMR; 88.9% vs. 66.7%, p=0.525 for MVO, respectively).
Combination treatment using IC abciximab and AT may synergistically improve myocardial perfusion in patients with STEMI undergoing primary PCI (Trial Registration: clinicaltrials. gov Identifier: NCT01404507).
Abciximab; thrombosuction; myocardial perfusion; myocardial infarction
The underlying cause of myasthenia gravis (MG) is unknown, although it likely involves a genetic component. However, no common genetic variants have been unequivocally linked to autoimmune MG. We sought to identify the genetic variants associated with an increased or decreased risk of developing MG in samples from a Korean Multicenter MG Cohort.
Materials and Methods
To determine new genetic targets related to autoimmune MG, a whole genome-based single nucleotide polymorphisms (SNP) analysis was conducted using an Axiom™ Genome-Wide ASI 1 Array, comprising 598375 SNPs and samples from 109 MG patients and 150 neurologically normal controls.
In total, 641 SNPs from five case-control associations showed p-values of less than 10-5. From regional analysis, we selected seven candidate genes (RYR3, CACNA1S, SLAMF1, SOX5, FHOD3, GABRB1, and SACS) for further analysis.
The present study suggests that a few genetic polymorphisms, such as in RYR3, CACNA1S, and SLAMF1, might be related to autoimmune MG. Our findings also encourage further studies, particularly confirmatory studies with larger samples, to validate and analyze the association between these SNPs and autoimmune MG.
Myasthenia gravis; whole genome-based SNP analysis; RYR3; CACNA1S; SLAMF1
Chronic obstructive pulmonary disease (COPD) is characterized by airflow limitation and results from environmental factors and genetic factors. Although cigarette smoking is a major risk factor, other environmental exposures can influence COPD. The purpose of this study is to investigate the clinical characteristics of COPD according to the history of environmental exposure.
The study population comprised of 347 subjects with COPD who were recruited from the pulmonary clinics of 14 hospitals within the Korean Obstructive Lung Disease Study Group. We classified environmental exposures according to history of living near factory, and direct exposure history to firewood or briquette. According to living environmental exposures, we compared the frequency of respiratory symptoms, pulmonary function, quality of life, exercise capacity, and computed tomography phenotypes.
Thirty-one subjects (8.9%) had history of living near factory, 271 (78.3%) had exposure history to briquette, and 184 (53.3%) had exposure history to firewood. Patients with history of living near a factory had a significantly longer duration of sputum, while patients with exposure to firewood tended to have lower forced expiratory volume in one second, and patients with exposure to briquette tended to have lower six minute walk distance.
COPD subjects with the history of living near factory had more frequent respiratory symptoms such as sputum. Our data suggest that environmental exposure may influence clinical phenotype of COPD.
Pulmonary Disease, Chronic Obstructive; Environmental Exposure; Air Pollutants; Occupational Exposure; Fossil Fuels
Previously, we developed a radiosensitivity molecular signature (RSI) that was clinically-validated in three independent datasets (rectal, esophageal, head and neck) in 118 patients. Here, we test RSI in radiotherapy (RT) treated breast cancer patients.
RSI was tested in two previously published breast cancer datasets. Patients were treated at the Karolinska University Hospital (n=159) and Erasmus Medical Center (n=344). RSI was applied as previously described.
We tested RSI in RT-treated patients (Karolinska). Patients predicted to be radiosensitive (RS) had an improved 5 yr relapse-free survival when compared with radioresistant (RR) patients (95% vs. 75%, p=0.0212) but there was no difference between RS/RR patients treated without RT (71% vs. 77%, p=0.6744), consistent with RSI being RT-specific (interaction term RSIxRT, p=0.05). Similarly, in the Erasmus dataset RT-treated RS patients had an improved 5-year distant-metastasis-free survival over RR patients (77% vs. 64%, p=0.0409) but no difference was observed in patients treated without RT (RS vs. RR, 80% vs. 81%, p=0.9425). Multivariable analysis showed RSI is the strongest variable in RT-treated patients (Karolinska, HR=5.53, p=0.0987, Erasmus, HR=1.64, p=0.0758) and in backward selection (removal alpha of 0.10) RSI was the only variable remaining in the final model. Finally, RSI is an independent predictor of outcome in RT-treated ER+ patients (Erasmus, multivariable analysis, HR=2.64, p=0.0085).
RSI is validated in two independent breast cancer datasets totaling 503 patients. Including prior data, RSI is validated in five independent cohorts (621 patients) and represents, to our knowledge, the most extensively validated molecular signature in radiation oncology.
radiosensitivity; predictive biomarkers; gene expression; molecular signature; breast cancer
Multiple classes of pharmacologic agents have the potential to induce the expression and release of pro-inflammatory factors from dying tumor cells. As a result, these cells can in theory elicit an immune response through various defined mechanisms to permanently eradicate disseminated cancer. However, the impact of chemotherapy on the tumor-specific immune response in the context of the tumor microenvironment is largely unknown. Within the tumor microenvironment, the immune response promoted by chemotherapy is antagonized by an immune-suppressive milieu, and the balance of these opposing forces dictates the clinical course of disease. Here we report that high antigen exposure within the tumor microenvironment following chemotherapy is sufficient to skew this balance in favor of a productive immune response. In elevating antigen exposure, chemotherapy can achieve long-term control of tumor progression without the need of an additional adjuvant. We found that chemotherapy initiated this phenomenon in the tumor microenvironment through an accumulation of dendritic cells, which stimulated CD8+ T cells and the type-I interferon pathway. From this conceptual base, we developed a simple approach to cancer therapy combining chemotherapy and vaccination that may be widely applicable.
Chemotherapy; tumor microenvironment; cisplatin; vaccination
Few studies have examined timeliness of diagnostic evaluation of abnormal cancer screening tests in community health centers.
Using medical record review, timeliness of diagnosis was assessed among 317 people having either breast or colorectal-related abnormalities.
For 241 subjects (76.0%) who reached clinical resolution, the median time to diagnostic resolution was 37 days. People with breast abnormalities had more than twice the odds (adjusted odds ratio: 2.84) of reaching diagnostic resolution within 180 days compared to patients with colorectal abnormalities. We found, however, no evidence of disparate outcomes according to patient race/ethnicity, insurance status, or spoken language.
Diagnostic evaluations are often either not completed or are delayed after a cancer-related abnormality is discovered. Further research is needed to understand the patient, provider, and health care system factors that contribute to these delays. There was no evidence of cancer disparities in the community health centers studied.
Breast cancer; colon cancer; disparities; community health center; diagnostic delay
[Purpose] This study sought to determine the usefulness of sit to stand training in
self-directed treatment of stroke patients. It examined the effect that sit to stand
training has on balance and functional movement depending on the form of support surfaces.
[Subjects and Methods] Thirty stroke patients were randomly sampled and divided into an
unstable support surface group (15) and stable support surface group (15). In order to
identify the effect depending on the form of support surfaces, 15 minutes of support
surface training plus + 15 minutes of free gait training was performed. [Results] The
results of the unstable support surface training showed that the corresponding sample
t-test results were significant for the 7-item 3-point Berg balance scale, timed Up and Go
test, and 6-minute walking test. The independent samples t-test, showed that there were
significant outcomes in step length on the affected side, and step length on the
unaffected side. [Conclusion] In conclusion, the sit to stand training on stable support
surfaces was not as effective as the training using unstable support surfaces, but it is a
simple and stable exercise with less risk of falls during training. It can also be
performed alone by the patient in order to increase endurance and dynamic balance ability.
Therefore, it is considered a useful exercise that can be performed alone by the patient
outside the treatment room.
Stroke; Self-directed treatment; Sit to stand
Here, we report a case of pleural paragonimiasis that was confused with tuberculous pleurisy. A 38-year-old man complained of a mild febrile sensation and pleuritic chest pain. Radiologic findings showed right pleural effusion with pleural thickening and subpleural consolidation. Adenosine deaminase (ADA) activity in the pleural effusion was elevated (85.3 IU/L), whereas other examinations for tuberculosis were negative. At this time, the patient started empirical anti-tuberculous treatment. Despite 2 months of treatment, the pleural effusion persisted, and video-assisted thoracoscopic surgery was performed. Finally, the patient was diagnosed with pleural paragonimiasis based on the pathologic findings of chronic granulomatous inflammation containing Paragonimus eggs. This case suggested that pleural paragonimiasis should be considered when pleural effusion and elevated ADA levels are observed.
Adenosine Deaminase; Paragonimiasis; Pleural Effusion; Tuberculosis
To determine the success rate of the “intended conservative management strategy” of ruptured ovarian cysts with hemoperitoneum and the risk factors for surgical interventions in healthy women of reproductive age.
Patients who visited the emergency department with abdominal pain and were diagnosed with a ruptured ovarian cyst with hemoperitoneum between August 2008 and June 2013 were included in this retrospective study. The diagnosis of the ruptured ovarian cysts and hemoperitoneum was based on the clinical symptoms, physical examination and ultrasound and CT imaging. The rate of surgical interventions and the risk factors for surgical intervention were determined.
A total of 78 women were diagnosed with a ruptured ovarian cyst with hemoperitoneum. Most patients (80.8%, 63/78) were managed conservatively, and 19.2% of the patients (15/78) required a surgical intervention. In the multiple logistic regression analysis, the diastolic blood pressure (dBP) (odds ratio [OR] of 0.921 with 95% confidence interval [CI] of 0.855–0.993) and the depth of the total pelvic fluid collection in CT (DTFC_CT) (OR 1.599 with 95% CI 1.092–2.343) were the significant determining factors of surgical intervention after adjustment. The rate of surgical intervention was 6.5% vs. 15.8% vs. 77.8% in the patients with neither dBP≤70 mmHg nor DTFC_CT≥5.6 cm, those with only one of those features, and those with both, respectively.
Most cases of ruptured ovarian cysts with hemoperitoneum can be managed conservatively. A low diastolic blood pressure and a large amount of hemoperitoneum suggest the need for surgical intervention.
Myocarditis often occurs due to viral infections and postviral immune-mediated responses. Hypersensitivity myocarditis is a rare form of myocarditis. Numerous drugs can induce myocarditis, which is typically reversible after withdrawal of the causative agent. Here, we report a case of hypersensitivity myocarditis that was probably triggered by amoxicillin and that resolved completely with heart failure management as well as discontinuation of the drug. A 68-year-old woman presented with acute chest pain mimicking acute coronary syndromes, but the coronary angiography was normal. A recent history of taking medications, skin rash, and peripheral eosinophilia suggested a diagnosis of hypersensitivity myocarditis, which was confirmed by cardiac magnetic resonance imaging and endomyocardial biopsy.
Myocarditis; Drug hypersensitivity; Magnetic resonance imaging; Biopsy
Endometriosis, defined as growth of endometrial stroma and glands outside the uterine cavity, is a chronic and recurrent disease that affects patients' quality of life. Ectopic endometrial tissue can proliferate at any location in the body, but the pelvic organs and peritoneum are the most frequent implantation sites. Among extrapelvic endometriosis, inguinal endometriosis is a very rare gynecologic condition usually associated with previous pelvic surgery. Endometriosis should be preoperatively distinguished from other inguinal masses using computed tomography, magnetic resonance imaging, or ultrasonography. Here, we report a case of right inguinal endometriosis in a patient with no previous history of gynecologic surgery; in addition, we have provided a brief review of relevant literature.
Endometriosis; Inguinal; Round ligament; Ultrasonography
To investigate the association of individual follicular fluid (FF) leptin and adiponectin levels with the quality of the corresponding oocyte and embryo.
We prospectively enrolled 67 women who underwent controlled ovarian hyperstimulation with 89 FF samples. FF and the corresponding oocyte was obtained from a single dominant preovulatory follicle at the time of oocyte retrieval. Concentrations of leptin and adiponectin were measured by enzyme-linked immunosorbent assay in an individual follicle. The oocyte quality, fertilization rate, and corresponding embryo development were assessed.
The FF level of leptin was significantly associated with body mass index (r=0.334, p<0.01). The FF adiponectin level was significantly higher in the normal fertilization group than the abnormal fertilization group (p=0.009) in the non-obese women. A lower FF leptin level was associated with a trend toward mature oocytes, normal fertilization, and good embryo quality, although these relationships were not statistically significant. The leptin:adiponectin ratio of FF did not differ significantly according to oocyte and embryo quality. The quality of the oocyte and embryo was not associated with the FF leptin level tertile. However, the normal fertilization rate was positively associated with FF adiponectin level tertile. There was a trend towards improved oocytes and normal fertilization rates with the lowest tertile of the FF leptin:adiponectin ratio, but this difference was not statistically significant.
Our results suggest that a high FF adiponectin concentration could be a predictor of normal fertilization. However, the FF leptin concentration and leptin:adiponectin ratio is not significantly related to oocyte maturity and corresponding embryo development.
Follicular fluid; Leptin; Adiponectin; Oocyte; Fertilization; Embryo
An 18-year-old male with a Fontan circulation underwent excision of a pheochromocytoma after conversion from laparoscopic surgery. The pneumoperitoneum established for laparoscopic surgery may have adverse effects on the Fontan circulation, because it increases the intra-abdominal pressure (IAP), intra-thoracic pressure, pulmonary vascular resistance, and systemic vascular resistance (SVR), and decreases cardiac preload and cardiac output. Meticulous monitoring is also required during carbon dioxide exsufflation, because a rapid decrease in IAP can provoke hemodynamic deterioration by decreasing venous return and SVR. Furthermore, catecholamines released by the pheochromocytoma can worsen the hemodynamic status of Fontan circulation during surgery. Therefore, sophisticated intraoperative anesthetic care is required during laparoscopic pheochromocytoma excision in patients with a Fontan circulation.
Fontan procedure; General anesthesia; Laparoscopic surgery; Pheochromocytoma
Pulmonary artery sarcoma (PAS) is a rare, poorly differentiated malignancy arising from the intimal layer of the pulmonary artery. Contrast-enhanced chest computed tomography (CT) is a good diagnostic modality that shows a low-attenuation filling defect of the pulmonary artery in PAS patients. An 18-year-old man was referred to our hospital for the evaluation and management of cavitary pulmonary lesions that did not respond to treatment. A contrast-enhanced CT of the chest was performed, which showed a filling defect within the right interlobar pulmonary artery. The patient underwent a curative right pneumonectomy after confirmation of PAS. Although lung parenchymal lesions of PAS are generally nonspecific, it can be presented as cavities indicate pulmonary infarcts. Clinicians must consider the possibility of PAS as well as pulmonary thromboembolism in patients with pulmonary infarcts. So, we report the case with PAS that was diagnosed during the evaluation of cavitary pulmonary lesions and reviewed the literatures.
Pulmonary Artery; Sarcoma; Pulmonary Infarction
Utility of immunohistochemistry (IHC) for mismatch repair (MMR) protein expression has been demonstrated in colorectal cancer but remains incompletely defined in ovarian cancer. We evaluated MMR protein expression in three population-based samples of epithelial ovarian cancers.
IHC staining was performed on full section (FS) or tissue microarray (TMA) slides for MLH1, MSH2, and MSH6 expression.
Of 487 cases, 147 and 340 were performed through FS and TMA, respectively. Overall, Loss of Expression (LoE) of at least one MMR protein was observed in 12.7% based on an expression score of ≤3 (on a scale of 9). Notably, LoE was significantly higher in TMAs (17.9%) compared to FS cases (0.7%) (p <0.001).
A substantial proportion of epithelial ovarian cancers have a loss of MMR protein expression. Protein expression results vary significantly by the tissue sampling methodology utilized, raising concerns about the clinical utility of this test for ovarian tumors.
immunohistochemistry; IHC; ovarian cancer; mismatch repair; MLH1; MSH2; MSH6
A tooth with primary endodontic disease that demonstrates a periodontal defect might be extracted because of misdiagnosis as severe periodontal disease or a vertical root fracture. The aim of this case report was to demonstrate the long-term survival of endodontically treated teeth, which had been initially considered unsavable. With meticulous evaluation including the patient's dental history, clinical and radiographic examinations, teeth with primary endodontic lesions could be differentiated and saved after proper root canal treatment. Pain history, vitality test, and radiographic examinations, as well as a general periodontal condition check with periodontal probing on an affected tooth, might be the key methods to differentiate endodontic pathosis from that of periodontal disease.
Diagnosis and treatment; Periodontal; Primary endodontic lesions
Increased epicardial adipose tissue (EAT) may be closely associated with the development of metabolic abnormalities. We investigated whether EAT predicts the incident metabolic syndrome in a community-based, middle-aged population. The study subjects were comprised of 354 adults (134 men and 220 women) aged 40 to 70 yr without metabolic syndrome. Baseline EAT thickness, measured by echocardiography, was compared between subjects who developed new-onset metabolic syndrome at follow-up survey and those who did not. After an average of 2.2 yr of follow-up, 32 men (23.9%) and 37 women (16.8%) developed metabolic syndrome. Median EAT thickness at baseline was significantly higher in male subjects who developed metabolic syndrome than those who did not (1.52 mm vs 2.37 mm, P<0.001). The highest quartile of EAT thickness (≥2.55 mm) was associated with increased risk of progression to metabolic syndrome (Odds ratio [OR], 3.09; 95% confidence interval [CI], 1.11-8.66) after adjustment for age, smoking, alcohol intake, regular exercise, total energy intake, high sensitive C-reactive protein and homeostasis model assessment of insulin resistance in men. A significant association of EAT with incident metabolic syndrome was not seen in women (OR, 1.25; 95% CI, 0.54-2.90). In conclusion, increased EAT thickness is an independent predictor for incident metabolic syndrome in men.
Metabolic Syndrome; Adipose Tissue; Pericardium
Glycogenic hepatopathy (GH) is an uncommon cause of serum transaminase elevation in type I diabetes mellitus (DM). The clinical signs and symptoms of GH are nonspecific, and include abdominal discomfort, mild hepatomegaly, and transaminase elevation. In this report we describe three cases of patients presenting serum transaminase elevation and hepatomegaly with a history of poorly controlled type I DM. All of the cases showed sudden elevation of transaminase to more than 30 times the upper normal range (like in acute hepatitis) followed by sustained fluctuation (like in relapsing hepatitis). However, the patients did not show any symptom or sign of acute hepatitis. We therefore performed a liver biopsy to confirm the cause of liver enzyme elevation, which revealed GH. Clinicians should be aware of GH so as to prevent diagnostic delay and misdiagnosis, and have sufficient insight into GH; this will be aided by the present report of three cases along with a literature review.
Glycogen hepatopathy; Transaminase; Type I diabetes mellitus
Although some CDH13 single nucleotide polymorphisms (SNPs) have been shown to be determinants of blood adiponectin levels, the clinical implications of CDH13 variants are not yet completely understood. The purpose of this study was to evaluate the effects of SNPs of CDH13 on metabolic and vascular phenotypes.
Materials and Methods
We included 238 hypertensive subjects and 260 age- and sex-matched controls. Seven tagging-SNPs were identified in the CDH13 gene by whole gene sequencing. The association between these SNP variants and the risk of hypertension, metabolic traits, and carotid intima-media thickness (IMT) was examined.
Minor allele carriers of rs12444338 had a lower risk of hypertension, but the association turned out just marginal after adjusting confoudners. Blood glucose levels were higher in the minor allele carriers of c.1407C>T (p=0.01), whereas low-density lipoprotein-cholesterol levels were greater in those of rs6565105 (p=0.02). The minor allele of rs1048612 was associated with a higher body mass index (p=0.01). In addition, the mean carotid IMT was significantly associated with rs12444338 (p=0.02) and rs1048612 (p=0.02).
These results provide evidence that CDH13 variants are associated with metabolic traits and carotid atherosclerosis in Koreans. This study shows the multifaceted effects of CDH13 variants on cardiometabolic risk.
CDH13 protein; human; hypertension; atherosclerosis; glucose; cholesterol