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ABSTRACT: Obesity is associated with a variety of adverse health risks. Several genome-wide association studies of obesity have identified candidate genes, including the fat mass and obesity-associated gene (FTO) and the melanocortin-4 receptor (MC4R) gene. We carried out a replication study of MC4R and FTO variants in a Korean cohort. A total of 2,281 subjects in the Bundang-gu region were analyzed using selected markers. Another 8,826 subjects in the Ansung/Ansan city were used for a meta-analysis. Two single nucleotide polymorphisms (SNPs) in FTO and one SNP in the MC4R gene were genotyped. Multivariate linear regression models were employed to test for genotypic effects on obesity traits while adjusting for age and sex using an additive model. The SNP rs17782313 near the MC4R gene was associated with mean body mass index in the Bundang-gu cohort (effect per allele 0.288 kg/m2, p = 0.0023). The p value for meta-analysis of rs17782313 in all 11,107 individuals in the Bundang-gu and Ansung/Ansan cohorts was 2.82 × 10-6 (effect per allele 0.22 kg/m2). Two SNPs in FTO were significantly associated with weight (effect per allele 0.969 kg, p = 0.011 for rs9939609; 0.943, p = 0.014 for rs8050136) but not with body mass index. This study demonstrates that genetic variants in MC4R influence obesity traits in Korean adults.
Endocrine 03/2013; · 1.42 Impact Factor
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ABSTRACT: Colorectal cancer (CRC) is among the leading causes of cancer deaths and can be caused by environmental factors as well as genetic factors. Therefore, we developed a prediction model of CRC using genetic risk scores (GRS) and evaluated the effects of conventional risk factors, including family history of CRC, in combination with GRS on the risk of CRC in Koreans. This study included 187 cases (men, 133; women, 54) and 976 controls (men, 554; women, 422). GRS were calculated with most significantly associated single-nucleotide polymorphism with CRC through a genomewide association study. The area under the curve (AUC) increased by 0.5% to 5.2% when either counted or weighted GRS was added to a prediction model consisting of age alone (AUC 0.687 for men, 0.598 for women) or age and family history of CRC (AUC 0.692 for men, 0.603 for women) for both men and women. Furthermore, the risk of CRC significantly increased for individuals with a family history of CRC in the highest quartile of GRS when compared to subjects without a family history of CRC in the lowest quartile of GRS (counted GRS odds ratio [OR], 47.9; 95% confidence interval [CI], 4.9 to 471.8 for men; OR, 22.3; 95% CI, 1.4 to 344.2 for women) (weighted GRS OR, 35.9; 95% CI, 5.9 to 218.2 for men; OR, 18.1, 95% CI, 3.7 to 88.1 for women). Our findings suggest that in Koreans, especially in Korean men, GRS improve the prediction of CRC when considered in conjunction with age and family history of CRC.
Genomics & informatics. 09/2012; 10(3):175-83.
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ABSTRACT: The antioxidant 3,4',5 tri-hydroxystilbene (resveratrol), a phytoalexin found in grapes, shows cancer preventive activities, including inhibition of migration and invasion of metastatic tumors. However, the molecular mechanism underlying the effect of resveratrol on tumor metastasis, especially in human metastatic lung and cervical cancers is not clear. A non-cytotoxic dosage of resveratrol causes a reduction in the generation of reactive oxygen species, and suppresses phorbol 12-myristate 13-acetate (PMA)-induced invasion and migration in both A549 and HeLa cells. Resveratrol also decreases both the expression and the enzymatic activity of matrix metalloproteinase-9 (MMP-9), and the promoter activity of PMA-stimulated MMP-9 is also inhibited. However, resveratrol does not affect either the expression or the proteolytic activity of MMP-2. Our results also show that resveratrol suppresses the transcription of MMP-9 by the inhibition of both NF-κB and AP-1 transactivation. These results indicate that resveratrol inhibits both NF-κB and AP-1 mediated MMP-9 expression, leading to suppression of migration and invasion of human metastatic lung and cervical cancer cells. Resveratrol has potential for clinical use in preventing invasion by human metastatic lung and cervical cancers.
Molecular Biology Reports 06/2012; 39(9):8709-16. · 2.93 Impact Factor
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Jae Woong Sull,
Kung-Yee Liang,
Jacqueline B. Hetmanski,
Tao Wu,
Margaret Daniele Fallin,
Roxann G. Ingersoll,
Ji Wan Park,
Yah-Huei Wu-Chou,
Philip K. Chen,
Samuel S. Chong,
Felicia Cheah,
Vincent Yeow,
Beyoung Yun Park,
Sun Ha Jee,
Ethylin Wang Jabs,
Richard Redett,
Alan F. Scott,
Terri H. Beaty
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ABSTRACT: This study examined the association between markers in transforming growth factor alpha (TGFA) and isolated, non-syndromic cleft lip with/without palate (CL/P) using a case–parent trio design, considering parent-of-origin
effects. We also tested for gene–environmental interaction with common maternal exposures, and for gene–gene interaction using
markers in TGFA and another recognized causal gene, IRF6. CL/P case–parent trios from four populations (76 from Maryland,
146 from Taiwan, 35 from Singapore, and 40 from Korea) were genotyped for 17 single nucleotide polymorphisms (SNPs) in TGFA. The transmission disequilibrium test was used to test individual SNPs, and the parent-of-origin likelihood ratio test (PO-LRT)
was used to assess parent-of-origin effects. We also screened for possible gene–environment interaction using PBAT, and tested
for gene–gene interaction using conditional logistic regression models. When all trios were combined, four SNPs showed significant
excess maternal transmission, two of which gave significant PO-LRT values [rs3821261: P=0.004 and OR(imprinting)=4.17; and rs3771475: P=0.027 and OR(imprinting)=2.44]. Haplotype analysis of these two SNPS also supported excess maternal transmission. We
saw intriguing but suggestive evidence of G×E interaction for several SNPs in TGFA when either individual SNPs or haplotypes
of adjacent SNPs were considered. Thus, TGFA appears to influence risk of CL/P through unconventional means with an apparent parent-of-origin effect (excess maternal
transmission) and possible interaction with maternal exposures.
Human Genetics 04/2012; 126(3):385-394. · 5.07 Impact Factor
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ABSTRACT: As well as biomedical risk factors, psychological factors have been reported to be related to mortality rate. The purpose of this study was to examine the relationship between life satisfaction and mortality in elderly people through an 11.8-year follow-up study of a prospective cohort.
Among 3,600 participants of the Kangwha Cohort Study who survived in 1994, 1,939 respondents of the Life Satisfaction Index (LSI)-A questionnaire were included (men, 821; women, 1118). The mortality risk for the period up to December 2005 was measured using the Cox Proportional Hazard Model.
When the relationship between LSI and mortality was evaluated in men, the unsatisfied group with lower LSI scores showed a significantly higher risk of all-cause mortality (hazard ratio [HR], 1.42; 95% confidence interval [CI], 1.11-1.83) than the satisfied group with higher LSI scores. In women, the unsatisfied group showed a significantly higher risk of all-cause mortality (HR, 1.51; 95% CI, 1.18-1.92) and cardiovascular mortality (HR, 2.23; 95% CI, 1.30-3.85) than the satisfied group.
We found that elderly people with a lower LSI score, regardless of gender, were at risk of increased mortality from all causes, and low LSI score was also associated with cardiovascular mortality.
BMC Public Health 01/2012; 12:54. · 2.00 Impact Factor
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ABSTRACT: Elevated uric acid levels are associated with a variety of adverse health risks. Genome-wide association studies have identified several candidate genes associated with serum uric acid levels, including SLC2A9. We carried out a replication study of SLC2A9 variants in two Korean cohorts. A total of 961 participants in Seoul City were genotyped using a genome-wide marker panel, and 1,859 participants in the Bundang-Gu area were used for a replication study with a selected marker. Multivariate linear regression models were employed to test for genotypic effects on uric acid levels while adjusting for age, sex, and smoking status using an additive model. The top single nucleotide polymorphism associated with uric acid levels was rs4529048 in the SLC2A9 gene on chromosome 4 (P = 2.12 × 10(-6) in the Seoul City sample; P = 1.55 × 10(-9) in the Bundang-Gu sample). The meta-analysis P value for rs4529048 in the combined 2,820 individuals was 1.17 × 10(-14). This study demonstrates that genetic variants in SLC2A9 influence uric acid levels in Korean adults.
Rheumatology International 01/2012; · 1.88 Impact Factor
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ABSTRACT: The antioxidant 6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid (Trolox) is implicated in migration and invasion of metastatic tumors. However, the molecular mechanism underlying the effect of Trolox on metastatic cancer cells is not known. We found that a non-cytotoxic dose of Trolox decreased phorbol 12-myristate 13-acetate (PMA)-induced invasion and migration of both A549 and HeLa cancer cells. We also found that Trolox suppressed both the expression and the proteolytic activity of matrix metalloproteinase-9 (MMP-9), and that the promoter activity of PMA-induced MMP-9 was inhibited by Trolox. Our results show that Trolox inhibits the transcriptional activity of MMP-9 by suppression of NF-κB transactivation. These results indicate that Trolox inhibits NF-κB-mediated MMP-9 expression, leading to the suppression of migration and invasion in lung and cervical cancer cells. Trolox is a potential agent for clinical use in preventing the invasion and metastasis of human malignant lung and cervical cancers.
International Journal of Molecular Medicine 11/2011; 29(2):245-51. · 1.98 Impact Factor
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ABSTRACT: The relationship between reproductive factors and the risk of mortality from cardiovascular disease in postmenopausal women is unclear. In this study, we aimed to investigate this relationship in Korean postmenopausal women.
Subcohort analysis was carried out using the data of 3,257 postmenopausal women (age, ≥55 y at study entry) from the Kangwha Cohort Study who were followed up from 1985 until 2005. Cox proportional hazards models were used to evaluate the associations between reproductive factors and cardiovascular disease mortality.
The risk of cardiovascular mortality in women who were 20 to 22 years old at first childbirth was 26% lower (95% CI, 0.60-0.92) than that in women younger than 20 years at first childbirth, after adjustment for age at entry, body mass index, hypertension, drinking, smoking, education, and occupation. Early first childbirth was associated with increased cardiovascular disease mortality (P trend = 0.036). The risk of coronary heart disease mortality was 51% lower in women who were 17 to 18 years old at menarche (95% CI, 0.25-0.95) than that in women who were younger than 17 years at menarche.
An inverse relationship between age at first childbirth and the risk of cardiovascular disease mortality exists. In addition, early menarche may be a reproductive risk factor for coronary heart disease mortality.
Menopause (New York, N.Y.) 06/2011; 18(11):1205-12. · 3.08 Impact Factor
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ABSTRACT: Adiponectin is secreted exclusively by adipocytes. Adiponectin is regulated by obesity, smoking, and genetic factors, including CDH13, which may contribute to development of diseases such as cardiovascular disease. Therefore, we aim to explore the joint effect of smoking and obesity on the association between CDH13 (rs3865188) and adiponectin among Korean men. This study included 1,570 Korean men aged 40-69 years who participated in the KARE cohort study (community-based cohorts, South Korea) from 2001. Hypoadiponectinemia was defined as the lowest quartile of adiponectin. In this study, individuals with at least one at-risk allele, the T allele, had an increased risk for hypoadiponectinemia, particularly current smokers with at least one T allele together with obesity when compared to those without the T allele. In addition, individuals with the TT genotype of CDH13 rs3865188, as well as obesity, were significantly associated with a 1.8-fold (odds ratio (OR) = 9.4, 95% confidence interval (CI) = 4.4-19.6, P < 0.001) increased risk for hypoadiponectinemia compared to individuals with the TT genotype of CDH 13 rs3865188 and normal waist circumference (WC) (OR = 5.1, 95% CI = 3.5-7.6, P < 0.001). However, in the joint effect of smoking and obesity, current smokers with the TT genotype of CDH13 rs3865188, as well as obesity, were significantly associated with a 6.2-fold (OR = 24.2, 95% CI = 3.0-196.6, P < 0.001) increased risk for hypoadiponectinemia compared to nonsmokers with the TT genotype of CDH 13 rs3865188 with normal WC (OR = 3.9, 95% CI = 1.7-9.3, P < 0.001). This study suggested that the association between CDH13 and adiponectin can be modified by lifestyle factors, such as smoking and obesity, among Korean men.
Obesity 05/2011; 20(8):1683-7. · 4.28 Impact Factor
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ABSTRACT: Previous studies have shown links between cognitive impairment and hypertension as well as mortality. However, combined effects of these two conditions on mortality have not been fully explored.
To assess the combined effect of cognitive impairment and hypertension on all-cause mortality among the elderly people.
We followed a cohort of 2,496 residents in Kangwha County, ranging in age from 64 to 101 years as of March 1994, for all-cause mortality for 11.8 years up to December 31, 2005. We calculated hazard ratios (HR) for all-cause mortality by cognitive status and blood pressure using the Cox proportional hazards model after having controlled for confounding factors.
1,189 people (47.6%) died during the 11.8 years of follow-up. The HR associated with severe cognitive impairment increased from 2.15 (95% CI: 1.30, 3.54) for prehypertension over 2.68 (95% CI: 1.60, 4.48) for stage 1 hypertension to 3.60 (95% CI: 1.99, 6.49) for stage 2 hypertension in women. A mortality risk of 3.67 (95% CI: 2.05, 6.57) was observed among men who had both mild cognitive impairment and stage 2 hypertension.
Individuals with coexisting cognitive impairment and hypertension are at an increased risk of all-cause mortality compared with those with cognitive impairment or hypertension alone.
Gerontology 03/2011; 57(6):490-6. · 2.78 Impact Factor
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ABSTRACT: The purpose of this study was to examine combined effects of hypertension and binge drinking on the risk of mortality from cardiovascular disease in Koreans.
This study followed a cohort of 6100 residents in Kangwha County, aged ≥55 years as of March 1985, for cardiovascular mortality for 20.8 years up to December 31, 2005. We calculated hazard ratios (HRs) for cardiovascular mortality by blood pressure and binge drinking habits using the Cox proportional hazard model. Binge drinkers and heavy binge drinkers were defined as having ≥6 drinks on 1 occasion and ≥12 drinks on 1 occasion.
After adjusting for total alcohol consumption, male heavy binge drinkers with Grade 3 hypertension had a 12-fold increased risk of cardiovascular mortality (HR, 12.7; 95% CI, 3.47 to 46.5), whereas male binge drinkers with Grade 3 hypertension had a 4-fold increased risk of cardiovascular mortality (HR, 4.41; 95% CI, 1.38 to 14.1) when compared with nondrinkers with normal blood pressure. However, in considering separate effects of heavy binge drinking and hypertension on the risk of cardiovascular mortality, HRs were rather low (HR of heavy binge drinkers, 1.88, 1.10 to 3.20; HR of hypertensives, 2.00, 1.70 to 2.35) compared with nondrinkers with normal blood pressure.
Binge drinkers and heavy binge drinkers with Grade 3 hypertension showed a marked increase in cardiovascular mortality risk. Even after adjusting for total alcohol consumption, the former revealed 4.41 and the latter indicated 12.7 of HR for the risk of cardiovascular mortality.
Stroke 10/2010; 41(10):2157-62. · 5.73 Impact Factor
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Sun Ha Jee, Jae Woong Sull,
Jong-Eun Lee,
Chol Shin,
Jongkeun Park,
Heejin Kimm,
Eun-Young Cho,
Eun-Soon Shin,
Ji Eun Yun,
Ji Wan Park,
Sang Yeun Kim,
Sun Ju Lee,
Eun Jung Jee,
Inkyung Baik,
Linda Kao,
Sungjoo Kim Yoon,
Yangsoo Jang,
Terri H Beaty
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ABSTRACT: Adiponectin is associated with obesity and insulin resistance. To date, there has been no genome-wide association study (GWAS) of adiponectin levels in Asians. Here we present a GWAS of a cohort of Korean volunteers. A total of 4,001 subjects were genotyped by using a genome-wide marker panel in a two-stage design (979 subjects initially and 3,022 in a second stage). Another 2,304 subjects were used for follow-up replication studies with selected markers. In the discovery phase, the top SNP associated with mean log adiponectin was rs3865188 in CDH13 on chromosome 16 (p = 1.69 × 10(-15) in the initial sample, p = 6.58 × 10(-39) in the second genome-wide sample, and p = 2.12 × 10(-32) in the replication sample). The meta-analysis p value for rs3865188 in all 6,305 individuals was 2.82 × 10(-83). The association of rs3865188 with high-molecular-weight adiponectin (p = 7.36 × 10(-58)) was even stronger in the third sample. A reporter assay that evaluated the effects of a CDH13 promoter SNP in complete linkage disequilibrium with rs3865188 revealed that the major allele increased expression 2.2-fold. This study clearly shows that genetic variants in CDH13 influence adiponectin levels in Korean adults.
The American Journal of Human Genetics 09/2010; 87(4):545-52. · 10.60 Impact Factor
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Roxann G Ingersoll,
Jacqueline Hetmanski,
Ji-Wan Park,
M Daniele Fallin,
Iain McIntosh,
Yah-Huei Wu-Chou,
Philip K Chen,
Vincent Yeow,
Samuel S Chong,
Felicia Cheah, [......],
Hong Wang,
Tao Wu,
Tanda Murray,
Shangzhi Huang,
Xiaoqian Ye,
Ethylin Wang Jabs,
Richard Redett,
Gerald Raymond,
Alan F Scott,
Terri H Beaty
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ABSTRACT: Isolated cleft lip with or without cleft palate and cleft palate are among the most common human birth defects. Several candidate gene studies on MSX1 have shown significant association between markers in MSX1 and risk of oral clefts, and re-sequencing studies have identified multiple mutations in MSX1 in a small minority of cases, which may account for 1-2% of all isolated oral clefts cases. We explored the 2-Mb region around MSX1, using a marker map of 393 single nucleotide polymorphisms (SNPs) in 297 cleft lip, with or without cleft palate, case-parent trios and 84 cleft palate trios from Maryland, Taiwan, Singapore, and Korea. Both individual markers and haplotypes of two to five SNPs showed several regions yielding statistical evidence for linkage and disequilibrium. Two genes (STK32B and EVC) yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations. These two genes plus EVC2 also yielded suggestive evidence for linkage and disequilibrium among cleft palate trios. This analysis suggests that several genes, not just MSX1, in this region may influence risk of oral clefts.
European journal of human genetics: EJHG 06/2010; 18(6):726-32. · 3.56 Impact Factor
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ABSTRACT: Alcohol consumption is a known risk factor for cancers of the mouth, esophagus, liver, colon, and breast. In this study, we examined the association between alcohol consumption and digestive cancer mortality in Korean men and women.
A cohort of 6291 residents of Kangwha County who were aged 55 years or older in March 1985 were followed to 31 December 2005-a period of 20.8 years. We calculated the relative risks of cancer mortality with respect to the amount of alcohol consumed. Cox proportional hazard model was used to adjust for age at entry, smoking, ginseng intake, education status, and pesticide use.
In men, the risks of mortality from esophageal cancer (relative risk [RR], 5.62; 95% confidence interval [CI], 1.45-21.77) and colon cancer (RR, 4.59; 95% CI, 1.10-19.2) were higher among heavy drinkers, as compared with abstainers. The risks of mortality from colon cancer and bile duct cancer rose with increasing alcohol consumption; these trends were positive and statistically significant (P = 0.04 and P = 0.02, respectively). When participants were stratified by type of alcoholic beverage, soju drinkers had higher risks of mortality from esophageal cancer and colon cancer than makkoli drinkers. In women, the risk of digestive cancer mortality was higher among alcohol drinkers than abstainers, but this difference was not statistically significant.
Alcohol consumption increases mortality from esophageal cancer and colon cancer in men.
Journal of Epidemiology 03/2010; 20(3):204-11. · 1.86 Impact Factor
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ABSTRACT: Panax ginseng C.A. Meyer is a well-known medicinal herb in North America and Europe. The purpose of this study was to investigate the association between ginseng intake and mortality among members of the Korean population.
We followed 6282 subjects who were 55 years of age or older in March 1985 until December 31, 2003. The Cox proportional hazard regression model was used to evaluate effects of ginseng intake on mortality.
Adjusting for age, education, occupation, drinking, smoking, self-reported chronic disease, body mass index, and blood pressure, all-cause mortality for male ginseng users was significantly lower than that for male nonusers (Hazard ratio [HR] = 0.90; 95% confidence interval [CI], 0.81-0.99). However, such an association was not observed in women (HR = 1.03; 95% CI, 0.94-1.13). Cancer-specific mortality was lower in female ginseng users than female nonusers after adjustment of relevant covariates (HR = 0.80; 95% CI, 0.60-1.08). Compared to nonusers, the HR for cancer-specific mortality in women was 0.84 in infrequent users (95% CI, 0.62-1.15) and 0.61 in frequent users (95% CI, 0.32-1.14) (p for trend, 0.09), which is not statistically significant. The cancer-specific mortality was not associated with ginseng intake in male subjects (HR = 0.95; 95% CI, 0.76-1.20). Mortality caused by cardiovascular diseases was not related to ginseng intake in both men and women.
The 18.8-year progressive cohort study showed that ginseng intake decreased all-cause mortality in older males, but such life prolongation effect was not shown in women.
Journal of alternative and complementary medicine (New York, N.Y.) 09/2009; 15(8):921-8. · 1.69 Impact Factor
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ABSTRACT: The association between body mass index and mortality caused by subtypes of stroke among postmenopausal women in terms of smoking status and age at menopause remains controversial.
The data were derived from a cohort study of 3321 with 17.8 years of follow-up (1985 to 2002). Hazard ratios (HRs) and 95% CIs for strokes as related to body mass index were estimated by Cox proportional hazard models adjusted for age, hypertension, smoking, drinking, occupation, education, self-reported health, and age at menopause. A stratified analysis was conducted by age at menopause and smoking status.
The obese group (body mass index >or=27.5 kg/m(2)) had higher risks of total stroke mortality (HR, 1.59; 95% CI, 1.05 to 2.42) and hemorrhagic stroke mortality (HR, 2.91; 95% CI, 1.37 to 6.19) than the normal weight group (18.5<or= body mass index <23.0). Among ever smokers, the obese group showed significantly increased risks of total stroke mortality (HR, 2.33; 95% CI, 1.00 to 5.43) and ischemic stroke mortality (HR, 7.21; 95% CI, 1.18 to 44.3). Obesity had more effect on stroke mortality among women who experienced menopause at age <50 than women with age >or=50. For the obese group of the former, the HR of total stroke was 2.04 (95% CI, 1.25 to 3.34) and that of hemorrhagic stroke 6.46 (95% CI, 2.42 to 17.25).
In this prospective study, obesity raised the risks of total stroke mortality and hemorrhagic stroke mortality among Korean menopausal women. It was more evident with women who experienced menopause at age <50. The obese group of ever smokers was at an increased risk of ischemic stroke mortality.
Stroke 08/2009; 40(11):3428-35. · 5.73 Impact Factor
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ABSTRACT: The purpose of this study was to examine the association between binge drinking and risks of mortality due to all causes of death with a focus on cerebrovascular disease in Korean men and women.
This study followed a cohort of 6291 residents in Kangwha County, aged > or =55 years in March 1985, for their cause-specific mortality for 20.8 years up to December 31, 2005. We calculated hazard ratio of mortality by experience or frequency of binge drinking using the Cox proportional hazard model. Binge drinking was defined as having > or =6 drinks on one occasion.
In men, binge drinkers who drink daily had an increased risk of mortality from all causes (hazard ratio, 1.33; 95% CI, 1.11 to 1.60) as compared with nondrinkers. They showed much increased risks of mortality from total stroke (hazard ratio, 1.86; 95% CI, 1.16 to 2.99) and hemorrhagic stroke (hazard ratio, 3.39; 95% CI, 1.38 to 8.35). Female binge drinkers also showed an increased risk of mortality from cardiovascular disease as compared with female nondrinkers, but the outcome was not statistically significant.
The results of this study suggest that frequent binge drinking has a harmful effect on hemorrhagic stroke in Korean men. These findings need to be confirmed in further studies.
Stroke 07/2009; 40(9):2953-8. · 5.73 Impact Factor
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ABSTRACT: Isolated cleft lip with or without cleft palate (CL/P) is among the most common human birth defects, with a prevalence of approximately 1 in 700 live births. The B-Cell Leukemia/lymphoma 3 (BCL3) gene has been suggested as a candidate gene for CL/P based on association and linkage studies in some populations. This study tests for an association between markers in BCL3 and isolated, non-syndromic CL/P using a case-parent trio design, while considering parent-of-origin effects.
Forty case-parent trios were genotyped for two single nucleotide polymorphisms (SNPs) in the BCL3 gene. We performed a transmission disequilibrium test (TDT) on individual SNPs, and the FAMHAP package was used to estimate haplotype frequencies and to test for excess transmission of multi-SNP haplotypes.
The odds ratio for transmission of the minor allele, OR (transmission), was significant for SNP rs8100239 (OR=3.50, p=0.004) and rs2965169 (OR=2.08, p=0.027) when parent-of-origin was not considered. Parent-specific TDT revealed that SNP rs8100239 showed excess maternal transmission. Analysis of haplotypes of rs2965169 and rs8100239 also suggested excess maternal transmission.
BCL3 appears to influence risk of CL/P through a parent-of-origin effect with excess maternal transmission.
Journal of Preventive Medicine and Public Health 02/2009; 42(1):1-4.
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ABSTRACT: Adiponectin has been reported as a new risk factor for the development of diabetes. However, it is not clear whether adiponectin levels are associated with family history of diabetes (FHD).
The objective of this study was to measure the independent association of serum adiponectin with FHD in relation to insulin resistance and obesity.
In 2006, a cross-sectional study was conducted in which waist circumference (WC), body mass index (BMI), and serum adiponectin were measured in 5919 healthy Korean men and women. Multiple linear regression models were used to assess the association of serum adiponectin levels with FHD. The population was classified into two groups according to median values for each of the following variables: WC, BMI, and homeostasis model assessment of insulin resistance (HOMA-IR).
The positive FHD group had higher HOMA-IR and lower adiponectin levels in both men and women than those without FHD. Adiponectin levels were significantly associated with FHD in men and women respectively, after adjusting for age, BMI, and alcohol consumption (P=0.0123 and 0.0004). The relationship between adiponectin and FHD was similar between the high and low insulin resistance, BMI, and WC groups in male non-smokers and in all Korean women.
These results confirm that adiponectin levels are associated with FHD. These data also suggest that the association of serum adiponectin with FHD may be independent of obesity and insulin resistance.
European Journal of Endocrinology 02/2009; 160(1):39-43. · 3.42 Impact Factor
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Ji Eun Yun, Jae Woong Sull,
Hee Yeon Lee,
Eunjung Park,
Soriwool Kim,
Jaeseong Jo,
Sun Ju Lee,
Sang Yeon Kim,
Young Ju Choi,
Sun Ha Jee,
Kap Bum Huh
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ABSTRACT: Although adiponectin is generally known as a predictor of metabolic syndrome, potential of adiponectin as a predictor for metabolic syndrome in type 2 diabetes is debated. The purpose of this study is to determine the association between adiponectin and metabolic syndrome in patients with type 2 diabetes.
Adiponectin and the risk of metabolic syndrome were examined among 1013 type 2 diabetes patients who visited Huh's Diabetes Center from January 2003 to June 2006. Adiponectin levels were classified into quartile groups, and metabolic syndrome was defined according to the standard of National Cholesterol Education Program (NCEP) Adult Treatment Panel (ATP) III. Insulin sensitivity was directly assessed using the short insulin tolerance test (SITT) (Kitt: %/ min).
Adiponectin was significantly correlated with metabolic syndrome components. The age-adjusted correlations between adiponectin and clinical parameters including metabolic components were significant; adiponectin was negatively correlated with waist circumference, diastolic blood pressure and triglyceride, and positively correlated with high-density lipoprotein (HDL) cholesterol. Subjects with metabolic syndrome showed lower adiponectin levels than those without metabolic syndrome. After multivariate adjustment, participants with lower adiponectin levels also had a higher risk for metabolic syndrome (OR for lowest quartiles 2.21; 95% CI, 1.51-3.24). Metabolic syndrome risk was stronger among those with low adiponectin and severe insulin resistance simultaneously. This study has shown additive effects of adiponectin and insulin resistance on metabolic syndrome.
In type 2 diabetic patients, the adiponectin was a useful predictor of metabolic syndrome independent of potential confounding variables.
Diabetes/Metabolism Research and Reviews 02/2009; 25(3):259-65. · 3.37 Impact Factor
