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Purpose@#This study aimed to define and clarify the concept of sexual dysfunction in women diagnosed with breast cancer. @*Methods@#This study used the concept analysis process of Walker and Avant, and 20 studies were selected. @*Results@#Sexual dysfunction in women diagnosed with breast cancer was defined as experiencing 1) loss of femininity, 2) negative changes in sexual response, and 3) negative feelings about relationship with partners. The identified antecedents were 1) breast cancer treatment-induced changes in body structure and function, 2) disease-related pain, 3) depression, 4) lack of medical services provided to help address sexual matters and difficulties, and 5) lack of understanding and support from partners. The consequences of this were 1) deterioration of relationship with partner, 2) seeking alternatives to overcome sexual dysfunction, 3) deterioration in quality of life, 4) depression, and 5) decrease in frequency of sexual activity. @*Conclusion@#The definition and attributes of sexual dysfunction in women diagnosed with breast cancer identified in this study can be applied to the development of tools and programs to measure sexual dysfunction in women diagnosed with breast cancer to enhance understanding of sexual dysfunction in women diagnosed with breast cancer.
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Purpose@#This study examined the mediating effects of depression on the relationship between peer relationships and problematic smartphone use in female adolescents. @*Methods@#Secondary analysis was performed on data from the Korean Children and Youth Panel Survey in 2018, a national survey conducted by Korea’s National Youth Policy Institute. Data from 1,141 female adolescents were analyzed using descriptive statistics, with independent t-test and 1-way analysis of variance, Pearson correlation coefficient, and multiple linear regression analysis. The significance of the mediating effect was verified using PROCESS macro model 4. @*Results@#The direct effects of both positive and negative peer relationships increased problematic smartphone use in female adolescents. Negative peer relationships increased problematic smartphone use via the mediating effects of depression, whereas positive peer relationships reduced problematic smartphone use via the mediating effects of depression. @*Conclusion@#Problematic smartphone use among female adolescents can be reduced by lowering the incidence of depression and developing interventions aimed at helping them resolve conflicts with friends and cope with negative emotions.
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Background@#Recent studies raise concerns that arthroscopic meniscectomy (AM) for degenerative tear may be detrimental to the maintenance of the joint structure. This study was performed to examine the rate of total knee replacement (TKR) among patients with knee osteoarthritis (OA) who underwent AM for meniscal tears and compare this rate with those who did not. @*Methods@#A retrospective cohort study was conducted using the National Health Insurance Database of South Korea. Among knee OA patients aged 50–79, those who were treated with AM due to meniscal damage from 2007 to 2009 were selected as the AM group while those not treated with AM despite the presence of meniscal damage were selected as control group. Both were matched based on a propensity score and followed-up until the earliest occurrence of:TKR, death, or 10 years. Cox proportional hazards models were used to compare the outcome. @*Results@#A total of 36,974 patients were included in AM groups and non-AM group after 1:1 matching. TKR occurred in 9.62% and 7.64% in AM and non-AM groups with the average duration after meniscectomy of 5.88 ± 2.77 and 5.50 ± 2.94 years, respectively. After adjustment for baseline confounders, the TKR rate in the AM group was calculated to be 25% higher than that in the non-AM group (subdistribution hazard ratio, 1.25; 95% confidence interval, 1.16–1.34). The mortality rate was 5.20%, which did not significantly differ between groups. @*Conclusion@#OA patients who underwent AM for the meniscal injury had higher incidence of TKR up to 10 years of follow-up than the non-operated group. The greater TKR utilization observed in patients undergoing AM merits caution when treating OA patients with meniscal injury.
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Background@#Meniscal tears are commonly observed in patients with knee osteoarthritis (OA), however, clinical significance of such lesions detected by magnetic resonance imaging is in many cases unclear. This study aimed to determine the clinical effectiveness of arthroscopic partial meniscectomy (APM) compared with non-operative care in patients with knee OA.Method: We used existing systematic reviews with updates of latest studies. Three randomized controlled studies were selected, where two studies compared the effects of APM plus physical therapy (PT) with PT alone and one compared APM alone and PT alone. While 1 study exclusively included OA patients, 2 studies included 21.1 and 12% of patients with no radiographic OA. Patients with knee locking were unanimously excluded. @*Results@#Upon comparison of APM plus PT and PT alone, there was no significant difference observed in knee function, physical activity, or adverse events. Knee pain was observed to be significantly lower in the APM plus PT group at 6 months, but there was no difference between the two groups at 12 and 24 months. With respect to the comparison between APM alone and PT alone, PT was non-inferior based on the criteria for knee function during 24 months; however, knee pain was significantly reduced in the APM alone group. @*Conclusions@#Our study showed that knee pain was significantly improved in the APM group compared to non-operative care group at 6 months and over 24 months. Our result was based on only 3 randomized controlled trials (RCTs) revealing a significant knowledge gap, hence demanding more high-quality RCTs in OA patients.
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Background/Aims@#We aimed to assess the validity of the Korean translated version of the Clinical Frailty Scale (CFS) in determining the frailty status in geriatric outpatients. @*Methods@#The records of 123 ambulatory outpatients who had undergone CFS and comprehensive geriatric assessments (CGAs) including measurements for the Cardiovascular Health Study (CHS) frailty scale and the frailty index (CGA-FI) were analyzed. Correlations between CFS, CHS frailty scale, and CGA-FI were assessed. The ability of CFS to classify frailty status was calculated using the CHS frailty scale and CGA-FI as references. @*Results@#The mean CFS score was 3.2 in the study population, with a mean age of 77.49 years (45.5% men). Individuals with higher CFS scores were older, had a greater burden of chronic diseases, and worse daily functions and cognitive performance. CFS scores positively correlated with CGA-FI (B = 0.78, p < 0.001) and CHS frailty scale (B = 0.67, p < 0.001) scores. For CFS, C-statistics to classify frailty by CGA-FI and CHS scale were 0.905 and 0.826, respectively. The cut-off value of CFS ≥ 4 maximized Youden’s J to classify frailty by both the CHS scale and CGAFI. @*Conclusions@#The CFS is a valid screening tool to assess the frailty status in outpatients of a geriatric clinic in Korea. As a simple and quick measure, the CFS may facilitate frailty assessments in real-world clinical practice.
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Background/Aims@#We aimed to assess the validity of the Korean translated version of the Clinical Frailty Scale (CFS) in determining the frailty status in geriatric outpatients. @*Methods@#The records of 123 ambulatory outpatients who had undergone CFS and comprehensive geriatric assessments (CGAs) including measurements for the Cardiovascular Health Study (CHS) frailty scale and the frailty index (CGA-FI) were analyzed. Correlations between CFS, CHS frailty scale, and CGA-FI were assessed. The ability of CFS to classify frailty status was calculated using the CHS frailty scale and CGA-FI as references. @*Results@#The mean CFS score was 3.2 in the study population, with a mean age of 77.49 years (45.5% men). Individuals with higher CFS scores were older, had a greater burden of chronic diseases, and worse daily functions and cognitive performance. CFS scores positively correlated with CGA-FI (B = 0.78, p < 0.001) and CHS frailty scale (B = 0.67, p < 0.001) scores. For CFS, C-statistics to classify frailty by CGA-FI and CHS scale were 0.905 and 0.826, respectively. The cut-off value of CFS ≥ 4 maximized Youden’s J to classify frailty by both the CHS scale and CGAFI. @*Conclusions@#The CFS is a valid screening tool to assess the frailty status in outpatients of a geriatric clinic in Korea. As a simple and quick measure, the CFS may facilitate frailty assessments in real-world clinical practice.
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Background@#Recent evidence has reported the relationships between 25-hydroxyvitamin D (25[OH]D) insufficiency and chronic diseases. This study examined the association of physical activity and sitting time with vitamin D status. @*Methods@#This study analyzed the data of 1,598 adults aged ≥19 who participated in the 2014 Korea National Health and Nutrition Examination Survey. Vitamin D insufficiency was defined as a serum 25(OH)D level of ≤20 ng/mL. The odds ratios and 95% confidence intervals of vitamin D insufficiency according to physical activity and sitting time were calculated using a multivariable logistic regression analysis. @*Results@#The mean levels of serum 25(OH)D were 16.5 ng/mL in males and 15.2 ng/mL in females, respectively and was significantly higher in the participants with sitting times of <5 hours/day than those with sitting times of ≥5 hours/day. After adjusting for confounding variables, sitting time of <5 hours/day was associated with decreased odds of vitamin D insufficiency as compared with sitting time of ≥5 hours/day in the total participants and females. In addition, the odds ratio for vitamin D insufficiency was significantly lower in the group with sitting times of <5 hours/ day than in the group with sitting times of ≥5 hours/day even among people with low physical activity in the total participants and females. @*Conclusion@#Serum 25(OH)D level was insufficient in the Korean adults and shorter sitting time was related to lower odds ratio of vitamin D insufficiency. Our findings suggest that sitting time is an independent factor of serum vitamin D status.
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BACKGROUND/AIMS@#This study was aimed to investigate the current clinical status of endoscopic submucosal dissection (ESD) for early gastric cancer (EGC) in Korea based on a National Health Insurance (NHI) database between 2011 and 2014.@*METHODS@#The claims data of ESD for EGC in Korean NHI were reviewed using material codes of Health Insurance Review and Assessment Service between November 2011 and December 2014. The current clinical status was analyzed in terms of treatment pattern, in-hospital length of stay (LOS), total medical costs, and en bloc resection rate according to the hospital type.@*RESULTS@#A total of 23,828 cases of ESD for EGC were evaluated. ESD was performed in 67.4% of cases in tertiary care hospitals, 31.8% in general hospitals, and 0.8% in hospitals, respectively. The median LOS was 5 days, and total median medical costs was approximately 1,300 US dollars. En bloc resection rate was 99%; 8.5% of cases underwent additional treatment within 90 days ESD, and 5.5% in 91 to 365 days after ESD. The clinical status was not significantly different according to the year and hospital type.@*CONCLUSIONS@#A majority of ESD for EGC were performed in tertiary care hospitals in Korea. The clinical status showed excellent clinical outcomes and did not differ by the year and between the types of hospitals in Korea.
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BACKGROUND/AIMS: Endoscopic submucosal dissection (ESD) has been regarded as a curative treatment for early gastric cancer (EGC) in indicated cases. The aim of this study was to evaluate the nationwide long-term clinical outcomes of ESD for EGC in Korea. METHODS: A prospective multicenter cohort study was performed to evaluate the long-term efficacy of ESD for EGC within pre-defined indications at 12 institutes in Korea. The cases that met the expanded criteria upon pathological review after ESD were followed for 5 years. The primary outcome was 5-year disease specific free survival. RESULTS: Six hundred ninety-seven patients with 722 EGCs treated with ESD were prospectively enrolled and followed for 5 years. Complete resection was achieved in 81.3% of the cases, and curative resection was achieved in 86.1%. During the 5-year follow-up, the overall survival rate was 96.6%, and the disease specific free survival rate was 90.6%. Local recurrence developed in 0.9%, and metachronous tumor development occurred in 7.8%; both conditions were treated by endoscopic or surgical treatment. Distant metastasis developed in 0.5% during follow-up. CONCLUSIONS: ESD showed excellent long-term clinical outcomes and can be accepted as a curative treatment for patients with EGC who meet the expanded criteria in final pathology studies.
Subject(s)
Humans , Academies and Institutes , Cohort Studies , Follow-Up Studies , Korea , Neoplasm Metastasis , Pathology , Prospective Studies , Recurrence , Stomach Neoplasms , Survival RateABSTRACT
We aimed to compare the efficacy and safety of long-acting injectable (LAI) and oral second-generation antipsychotics (SGAs) in treating schizophrenia by performing a systematic review and meta-analysis. MEDLINE, EMBASE, PsycINFO, CINAHL, and the Cochrane Library, as well as five Korean databases, were systemically searched to identify studies published from 2000 to 16 April 2015, which compared the efficacy and safety of LAI and oral SGAs. Using data from randomized controlled trials (RCTs), meta-analyses were conducted. In addition, the GRADE (the Grading of Recommendations, Assessment, Development and Evaluation) approach was applied to explicitly assess the quality of the evidence. A total of 30 studies including 17 RCTs and 13 observational studies were selected. The group treated with LAI SGAs was characterized by significantly lower relapse rates, longer times to relapse and fewer hospital days, but also by a higher occurrence of extrapyramidal syndrome and prolactin-related symptoms than that in the group treated with oral SGAs. Our findings demonstrate that there is moderate to high level of evidence suggesting that in the treatment of schizophrenia, LAI SGAs have higher efficacy and are associated with higher rates of extrapyramidal syndrome and prolactin-related symptoms. Additionally, the use of LAI SGAs should be combined with appropriate measures to reduce dopamine D2 antagonism-related symptoms.
Subject(s)
Antipsychotic Agents , Dopamine , Recurrence , SchizophreniaABSTRACT
PURPOSE: Metformin is associated with an anticancer effect. However, the effects of metformin in rectal cancer are controversial. This study investigated the impact of metformin on the survival of patients with diabetes mellitus and nonmetastatic rectal cancer who underwent curative surgery. MATERIALS AND METHODS: The database was provided by the Korea Center Cancer Registry and National Health Insurance Service of the Republic of Korea. A cohort of patients with newly diagnosed rectal cancer between 2005 and 2011 was identified. Drug exposure was defined as receiving the oral hypoglycemic agent for at least 90 days over the period from 6 months before the initial diagnosis of rectal cancer to the last follow-up. RESULTS: A total of 4,503 patients were prescribed oral hypoglycemic agents and classified as the diabetic group, of which 3,694 patients received metformin for at least 90 days. Unadjusted analyses showed a significantly higher overall survival (hazard ratio, 0.596; 95% confidence interval, 0.506 to 0.702) and rectal cancer-specific survival (hazard ratio, 0.621; 95% confidence interval, 0.507 to 0.760) in the metformin group than in the nonmetformin group. The adjusted overall survival (hazard ratio, 0.631; 95% confidence interval, 0.527 to 0.755) and cancer-specific survival (hazard ratio, 0.598; 95% confidence interval, 0.479 to 0.746) in the group with a medication possession ratio of 80% or greater was significantly higher than in the group with a medication possession ratio of less than 80%. CONCLUSION: Metformin use is associated with overall and cancer-specific survival in diabetic patients with a nonmetastatic rectal cancer treated with a curative resection.
Subject(s)
Humans , Cohort Studies , Colorectal Surgery , Diabetes Mellitus , Diagnosis , Follow-Up Studies , Hypoglycemic Agents , Korea , Metformin , National Health Programs , Rectal Neoplasms , Republic of KoreaABSTRACT
Spinal fractures have been recognized as a major health concern. Our purposes were to evaluate the trends in the incidence and mortality of spinal fractures between 2008 and 2012 and predict the number of spinal fractures that will occur in Korea up to 2025, using nationwide data from the National Health Insurance Service (NHIS). A nationwide data set was evaluated to identify all new visits to medical institutes for spinal fractures in men and women aged 50 years or older between 2008 and 2012. The incidence, mortality rates and estimates of the number of spinal fractures were calculated using Poisson regression. The number of spinal fractures increased over the time span studied. Men and women experienced 14,808 and 55,164 vertebral fractures in 2008 and 22,739 and 79,903 in 2012, respectively. This reflects an increase in the incidence of spinal fractures for both genders (men, 245.3/100,000 in 2008 and 312.5/100,000 in 2012; women, 780.6/100,000 in 2008 and 953.4/100,000 in 2012). The cumulative mortality rate in the first year after spinal fractures decreased from 8.51% (5,955/69,972) in 2008 to 7.0% (7,187/102,642) in 2012. The overall standardized mortality ratio (SMR) of spinal fractures at 1 year post-fracture was higher in men (7.76, 95% CI: 7.63-7.89) than in women (4.70, 95% CI: 4.63-4.76). The total number of spinal fractures is expected to reach 157,706 in 2025. The incidence of spinal fractures increased in Korea in the last 5 years, and the socioeconomic burden of spinal fractures will continue to increase in the near future.
Subject(s)
Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Databases, Factual , Incidence , Insurance Claim Review , Republic of Korea , Retrospective Studies , Spinal Fractures/epidemiology , Survival RateABSTRACT
The purpose of this study was to assess the incidence and mortality of distal radius fracture among patients 50 years of age and older with diagnosis code (ICD10; S52.5, S52.6) and treatment code using a nationwide claims database from 2008 to 2012. All patients were followed using patient identification code to identify deaths. Standardized mortality ratios (SMRs) of distal radius fracture were calculated based on age and gender-specific rates in the entire Korean population. The number of distal radius fractures increased by 54.2% over the 5-year study (48,145 in 2008 and 74,240 in 2012). The incidence of distal radius fracture increased from 367.4/100,000 in 2008 to 474.1/100,000 in 2012. The cumulative mortality rate over the first 12 months after distal radius fracture was decreased from 2.0% (968/48,145) in 2008 to 1.4% (1,045/74,240) in 2012. The mean year mortality over 5 years in men (2.6%, 1,279/50,128) over the first 12 months was 1.7-times higher than in women (1.5%, 3,952/257,045). The mean of SMR of distal radius fracture at 1 year post-fracture was 1.45 in men and 1.17 in women. This study using a nationwide database demonstrates that the distal radius fractures are increasing with a decreasing mortality in Korea.
Subject(s)
Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Databases, Factual , Incidence , Radius Fractures/diagnosis , Republic of Korea/epidemiology , Sex Distribution , Survival AnalysisABSTRACT
PURPOSE: The objective of this study was to determine whether the progressive increase of metabolic syndrome (MetS) score, the number of components of MetS, is correlated significantly with increasing pulse pressure (PP). MATERIALS AND METHODS: 4,034 subjects were enrolled from the Cardiovascular Genome Center of Yonsei University (M:F=2344:1690, 55.2 +/- 10.5). Most of the study population were recruited from hypertension clinics, controlled with medications according to JNC7 guidelines. The Asian modified criteria of MetS were applied and MetS score was estimated. The HOMA index for insulin resistance, cholesterol profiles, and anthropometric measurements were assessed. RESULTS: Among 4034 participants, 1690 (41.9%) were classified as MetS. Progressive increase in PP was demonstrated for increasing components of the MetS score. Multiple linear regression analysis with PP as the dependent variable showed that age (beta=0.311, p < 0.001), MetS score (beta=0.226, p < 0.001), male gender (beta=-0.093, p < 0.001) and HOMA index IR (beta=0.033, p=0.03) are significantly associated with PP (R(2)=0.207, p < 0.001). CONCLUSION: The present results from this study demonstrate that increasing MetS score is an independent determinant of increasing PP. The results also demonstrate the independent role of MetS in increasing arterial stiffness and PP.
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Age Distribution , Blood Pressure , Metabolic Syndrome/epidemiologyABSTRACT
PURPOSE: The aim of study was to compare the differentiation capacity of mesenchymal stem cells (MSCs) obtained from human bone marrow (BM) according to the age of the donors. MATERIALS AND METHODS: MSCs were isolated from the BM of young (n=16, 12.5+/-5.8 years) and elder (n=4, 48.5+/-7.2 years) patients with the consent of them. We analyzed the cell morphology and the cell surface markers of the MSCs. In addition, we assessed the cell senescence with serial cultures from both age groups. Cell pluripotentiality was analyzed by osteogenic, chondrogenic, and adipogenic induction media. We performed RT-PCR, a measurement of expression of alkaline phosphatase, and staining with von Kossa, safranin O, and oil red O stain. RESULTS: All of the MSC samples tested, irrespective of the age of the donors, MSCs were all successfully isolated from twenty bone marrows. However, the number of cells of from the young donors was five times greater than that of the elderly donors. Senescence was observed over 10 passages in both age groups. The immunophenotypes of both age groups showed similar patterns. MSCs obtained from young and older donors showed the potential to differentiate into osteogenic, chondrogenic, and adipogenic lineages with no difference for both age groups. CONCLUSION: Our study supports that age does not influence the pluripotential capacity of human BM derived MSCs.
Subject(s)
Aged , Humans , Aging , Alkaline Phosphatase , Bone Marrow , Cellular Senescence , Mesenchymal Stem Cells , Tissue DonorsABSTRACT
PURPOSE: Hypertensive response to exercise (HRE) is known to be an adverse prognostic factor for future cardiovascular events and may be associated to endothelial dysfunction. Previous studies regarding endothelial nitric oxide synthase (eNOS) Glu298Asp polymorphism focused upon its relation to hypertension. In this study, we hypothesize that the polymorphism may be associated with inherent difference in endothelial response to exercise. PATIENTS AND METHODS: Two hundred sixty nine patients who underwent treadmill test were enrolled in this study; 77 patients (mean age 55.8 +/- 9.4 years) had hypertensive response (peak systolic BP of > 210mmHg in men and > 190mmHg in women). Pulse wave velocity (PWV) was measured on 153 patients of them. The Glu298Asp exchange in exon 7 was determined by the methods of single base extension with amplifying primers and probes for TaqMan. RESULTS: The percentages of the GG, GT and TT genotypes were 81.0, 18.6 and 0.4 %, respectively. The presence of GT or TT genotype was independently associated with prevention of HRE when controlled for age, sex, baseline systolic BP and homeostatic model assessment (HOMA) index (OR=0.35, p=0.016). Subgroup analysis showed that preventive effect for HRE of T allele was significant in females (p < 0.001) and patients without insulin resistance (p=0.009). CONCLUSION: In our study, eNOS Glu298Asp polymorphism was significantly associated with HRE. This result suggests that the presence of T allele of the Glu298Asp polymorphism may be a favorable factor to in preventing HRE, especially in female and patients without insulin resistance.
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Blood Pressure/physiology , Exercise/physiology , Gene Frequency , Genotype , Hypertension/genetics , Nitric Oxide Synthase Type III/genetics , Odds Ratio , Polymorphism, Single Nucleotide , Regression AnalysisABSTRACT
PURPOSE: Hypertensive response to exercise (HRE) is known to be an adverse prognostic factor for future cardiovascular events and may be associated to endothelial dysfunction. Previous studies regarding endothelial nitric oxide synthase (eNOS) Glu298Asp polymorphism focused upon its relation to hypertension. In this study, we hypothesize that the polymorphism may be associated with inherent difference in endothelial response to exercise. PATIENTS AND METHODS: Two hundred sixty nine patients who underwent treadmill test were enrolled in this study; 77 patients (mean age 55.8 +/- 9.4 years) had hypertensive response (peak systolic BP of > 210mmHg in men and > 190mmHg in women). Pulse wave velocity (PWV) was measured on 153 patients of them. The Glu298Asp exchange in exon 7 was determined by the methods of single base extension with amplifying primers and probes for TaqMan. RESULTS: The percentages of the GG, GT and TT genotypes were 81.0, 18.6 and 0.4 %, respectively. The presence of GT or TT genotype was independently associated with prevention of HRE when controlled for age, sex, baseline systolic BP and homeostatic model assessment (HOMA) index (OR=0.35, p=0.016). Subgroup analysis showed that preventive effect for HRE of T allele was significant in females (p < 0.001) and patients without insulin resistance (p=0.009). CONCLUSION: In our study, eNOS Glu298Asp polymorphism was significantly associated with HRE. This result suggests that the presence of T allele of the Glu298Asp polymorphism may be a favorable factor to in preventing HRE, especially in female and patients without insulin resistance.
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Blood Pressure/physiology , Exercise/physiology , Gene Frequency , Genotype , Hypertension/genetics , Nitric Oxide Synthase Type III/genetics , Odds Ratio , Polymorphism, Single Nucleotide , Regression AnalysisABSTRACT
PURPOSE: Recent studies using human and mice reported that apolipoprotein A-V (APOA5) gene plays an important role in controlling triglyceride (TG) concentrations. The purpose of the present study was to investigate the correlation between single nucleotide polymorphisms (SNPs) and haplotypes in the APOA5 gene and TG in subjects and to search for possible associations of the APOA5 gene variants and common haplotypes with hypertriglyceridemia (HTG). MATERIALS AND METHODS: We examined the case-control subjects including 100 HTG patients and 243 unrelated healthy control. The genes were screened for SNPs by direct sequencing in 48 genetically unrelated individuals. Six SNPs (-1390C>T, -1020G>A, -3A>G, V150M, G182C and 1259T>C) were genotyped in case and control populations. RESULTS: In this study, our results indicated a strong association between APOA5 SNP -3A>G and G182C and elevated TG levels (p<0.001). Analysis of the SNPs from APOA5 gene has identified major haplotype showing very strong association with HTG, CGGGTT (p<0.001). Likelihood ratio test (LRT) of these six SNPs revealed that haplotypes were strong independent predictors of HTG (p<0.001). Haplotype-trend logistic regression (HTR) analysis revealed a significant association between the CGGGGC (haplotype 2) and CGGGTT (haplotype 4) and HTG (OR=2.48, 95% CI=1.06-5.76 and OR=8.54, 95% CI=2.66-27.42, respectively). CONCLUSION: We confirm that the APOA5 variants are associated with triglyceride levels and the haplotype may be strong independent predictors of HTG among Koreans.
Subject(s)
Female , Humans , Male , Middle Aged , Apolipoproteins A/genetics , Case-Control Studies , Genetic Predisposition to Disease , Haplotypes , Hypertriglyceridemia/genetics , Korea , Linkage Disequilibrium , Polymorphism, Single Nucleotide , Triglycerides/bloodABSTRACT
BACKGROUND AND OBJECTIVES: Analyzing the association between multiple SNPs and the disease outcomes will provide new insight into the disease's etiology. However, this presents an analytic difficulty due to the large number of SNPs and the complex relationships among them. We proposed using the mixed model approach to identify the significant multi-locus genotypes and the high-order gene-to-gene interactions. SUBJECTS AND METHODS: We described the mixed effects model and applied this approach to real world data. For the purpose of these analyses, we examine the association of four types of SNPs (AGT5, APOB, CETP3 and ACE6) with the lipid profiles and the measures related with cardiovascular disease. We used data from 672 healthy individuals (283 males and 389 females) who were without cardiovascular diseases. RESULTS: The results of our analysis suggested that there were significant random genotype patterns and genotype groups according to the gender effect on the lipid profiles. In other words, there was significant variability across the genotype groups because of the effect of gender on the lipid profiles. CONCLUSION: The mixed model approach provided a flexible statistical framework for controlling potential confounding variables and for identifying a significant genetic contributions that may come about through the effects of multi-locus genotypes or through an interaction between the genotype and environmental variables (e.g. gender) with the variations in quantitative traits (e.g. lipid profiles). There were significant genetic contributions to the variability in the lipid profiles, and these were explained by the 4 SNPs described in our real data.
Subject(s)
Humans , Male , Apolipoproteins B , Cardiovascular Diseases , Genotype , Polymorphism, Single NucleotideABSTRACT
BACKGROUND AND OBJECTIVES: It is very important to distinguish between the primary and secondary genetic effects at different sites within a small genetic region. Therefore, we evaluated the relative effects of single nucleotide polymorphisms (SNPs) within a gene on the serum lipid profiles by using individual data. SUBJECTS AND METHODS: To evaluate the contributions of SNPs in a region to the serum lipid profiles (total cholesterol, triglyceride, low density lipoprotein, high density lipoprotein), we used data that consisted of 808 individuals (327 males and 481 females) who did not have cardiovascular disease. In this study, we used a stepwise regression procedure to analyze the relative effects of four single nucleotide polymorphisms (ACE6, ACE7, ACE8, ACE10) in a gene region on the development of the serum lipid profiles in each gender group. RESULTS: In the males, there were epistatic interaction effects between two loci (ACE6xACE7, ACE6xACE8, ACE6xACE10, ACE8xACE10 and ACE7xACE8) and among three loci (ACE6xACE7xACE8, ACE6xACE7xACE10 and ACE6xACE8xACE10). Also, there are interaction effects between two loci (ACE6xACE7, ACE6xACE8, ACE6xACE10, ACE7xACE10 and ACE8xACE10) and among three loci (ACE6xACE7xACE8, ACE6xACE7xACE10, ACE6xACE8xACE10 and ACE7xACE8xACE10) in the females. CONCLUSION: The results suggested that each of these loci is important in causing a relative change of the serum lipid profiles, even with simultaneously accounting for the effects at the other loci. In the results of the analysis, there existed the effects of individual loci and significant interaction between the loci on the serum lipid profiles in each gender group. It was confirmed that this stepwise regression method can be suitable for evaluating the relative effects of SNPs and it is easily performed.