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1.
PLoS One ; 16(2): e0247757, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33635908

RESUMEN

Younger age at menarche (AAM) is associated with higher body mass index (BMI) for young women. Considering that continuous trends in decreasing AAM and increasing BMI are found in many countries, we attempted to assess whether the observed negative association between AAM and young adult BMI is causal. We included 4,093 women from the Korean Genome and Epidemiology Study (KoGES) and Healthy twin Study (HTS) with relevant epidemiologic data and genome-wide marker information. To mitigate the remarkable differences in AAM across generations, we converted the AAM to a generation-standardized AAM (gsAAM). To test causality, we applied the Mendelian randomization (MR) approach, using a genetic risk score (GRS) based on 14 AAM-associated single nucleotide polymorphisms (SNPs). We constructed MR models adjusting for education level and validated the results using the inverse-variance weighted (IVW), weighted median (WM), MR-pleiotropy residual sum and outliers test (MR-PRESSO), and MR-Egger regression methods. We found a null association using observed AAM and BMI level (conventional regression; -0.05 [95% CIs -0.10-0.00] per 1-year higher AAM). This null association was replicated when gsAAM was applied instead of AAM. Using the two-stage least squares (2SLS) approach employing a univariate GRS, the association was also negated for both AAM and gsAAM, regardless of model specifications. All the MR diagnostics suggested statistically insignificant associations, but weakly negative trends, without evidence of confounding from pleiotropy. We did not observe a causal association between AAM and young adult BMI whether we considered the birth cohort effect or not. Our study alone does not exclude the possibility of existing a weak negative association, considering the modest power of our study design.

2.
Prog Orthod ; 21(1): 44, 2020 Dec 07.
Artículo en Inglés | MEDLINE | ID: mdl-33283252

RESUMEN

BACKGROUND: The purpose of this study is to investigate the heritability of total rotation, matrix rotation, and intramatrix rotation of the mandible in Korean monozygotic (MZ) twins, dizygotic (DZ) twins, and their siblings. MATERIALS AND METHODS: The samples consisted of 75 pairs of Korean twins (39.7 + 9.26 years; MZ group, 36 pairs; DZ group, 13 pairs; sibling group, 26 pairs). Lateral cephalograms were taken, and 13 variables related to internal and external mandible rotation were measured. Three types of occlusal planes (bisected occlusal plane, functional occlusal plane, and the MM bisector occlusal plane) were used to evaluate genetic influence on the occlusal plane. Heritability (h2) was calculated by using the intraclass correlation coefficient (ICC) and Falconer's method. RESULTS: With regard to mandibular rotation, the MZ twin group showed significantly higher ICC values compared to the DZ twin and sibling groups. The ICC mean values for 13 cephalometric measurements were 0.85 (MZ), 0.62 (DZ), and 0.52 (siblings) respectively. The heritability of the total rotation (0.48) and matrix rotation (0.5) between the MZ and DZ groups was higher than that of the intramatrix rotation (- 0.14). All of the three types of occlusal plane showed high heritability, and among the three types, the functional occlusal plane showed the highest heritability (h2 = 0.76). CONCLUSION: Based on these findings that showed a strong genetic effect on total rotation and matrix rotation, maintaining these rotations should be carefully considered in the orthodontic treatment plan, while the lower border of the mandible may be responsive to various treatments. Occlusal plane change, especially with regard to the functional occlusal plane, may not be stable due to strong genetic influences.

3.
Alcohol Clin Exp Res ; 2020 Nov 10.
Artículo en Inglés | MEDLINE | ID: mdl-33170513

RESUMEN

BACKGROUND: Alcohol may increase gastric cancer risk. Alcohol can be more carcinogenic in persons who possess inactive ALDH2. The aim of this meta-analysis was to evaluate whether ALDH2 polymorphism can affect alcohol-induced gastric carcinogenesis. METHODS: We searched the PubMed, EMBASE, and Cochrane databases to identify relevant articles published between January 2000 and September 2019. Eligible articles were selected according to inclusion and exclusion criteria. The data were analyzed using Review Manager 5.3. RESULTS: A total of 7 case-control studies on ALDH2 rs671 polymorphism consisting of 3,251 gastric cancer cases and 4,943 controls were included in the analysis. Inactive ALDH2 genotypes (G/A or A/A) were associated with an increased risk of gastric cancer (odds ratio [OR] = 1.26, 95% confidence interval [CI]: 1.04-1.52, p = 0.02, I2 = 64%), compared with active ALDH2 (G/G genotype). Subgroup analysis by alcohol consumption showed that inactive ALDH2 increased risk for gastric cancer in moderate to heavy drinkers (OR = 1.85, 95% CI: 1.52-2.25, p < 0.01, I2 = 6%) more than in nondrinkers or mild drinkers (OR = 1.19; 95% CI: 1.05-1.36, p < 0.01, I2 = 6%). Moderate/heavy alcohol consumption increased gastric cancer risk in individuals with inactive ALDH2 (OR = 2.23, 95% CI: 1.63-3.05, p < 0.01, I2 = 30%) more than those with active ALDH2 (OR = 1.40, 95% CI: 0.98-2.01, p = 0.07, I2 = 85%). CONCLUSIONS: ALDH2 polymorphism can modify the risk of gastric cancer, especially in moderate/heavy drinkers. Gastric cancer is more susceptible among drinkers with inactive ALDH2.

4.
Int J Cancer ; 2020 Nov 16.
Artículo en Inglés | MEDLINE | ID: mdl-33197272

RESUMEN

Mammograms contain information that predicts breast cancer risk. We developed two novel mammogram-based breast cancer risk measures based on image brightness (Cirrocumulus) and texture (Cirrus). Their risk prediction when fitted together, and with an established measure of conventional mammographic density (Cumulus), is not known. We used three studies consisting of: 168 interval cases and 498 matched controls; 422 screen-detected cases and 1197 matched controls; and 354 younger-diagnosis cases and 944 controls frequency-matched for age at mammogram. We conducted conditional and unconditional logistic regression analyses of individually- and frequency-matched studies, respectively. We estimated measure-specific risk gradients as the change in odds per standard deviation of controls after adjusting for age and body mass index (OPERA) and calculated the area under the receiver operating characteristic curve (AUC). For interval, screen-detected and younger-diagnosis cancer risks, the best fitting models (OPERAs [95% confidence intervals]) involved: Cumulus (1.81 [1.41-2.31]) and Cirrus (1.72 [1.38-2.14]); Cirrus (1.49 [1.32-1.67]) and Cirrocumulus (1.16 [1.03 to 1.31]); and Cirrus (1.70 [1.48 to 1.94]) and Cirrocumulus (1.46 [1.27-1.68]), respectively. The AUCs were: 0.73 [0.68-0.77], 0.63 [0.60-0.66], and 0.72 [0.69-0.75], respectively. Combined, our new mammogram-based measures have twice the risk gradient for screen-detected and younger-diagnosis breast cancer (P ≤ 10-12 ), have at least the same discriminatory power as the current polygenic risk score, and are more correlated with causal factors than conventional mammographic density. Discovering more information about breast cancer risk from mammograms could help enable risk-based personalised breast screening.

5.
Genes (Basel) ; 11(11)2020 Nov 13.
Artículo en Inglés | MEDLINE | ID: mdl-33202901

RESUMEN

The current human reference genome (GRCh38), with its superior quality, has contributed significantly to genome analysis. However, GRCh38 may still underrepresent the ethnic genome, specifically for Asians, though exactly what we are missing is still elusive. Here, we juxtaposed GRCh38 with a high-contiguity genome assembly of one Korean (AK1) to show that a part of AK1 genome is missing in GRCh38 and that the missing regions harbored ~1390 putative coding elements. Furthermore, we found that multiple populations shared some certain parts in the missing genome when we analyzed the "unmapped" (to GRCh38) reads of fourteen individuals (five East-Asians, four Europeans, and five Africans), amounting to ~5.3 Mb (~0.2% of AK1) of the total genomic regions. The recovered AK1 regions from the "unmapped reads", which were the estimated missing regions that did not exist in GRCh38, harbored candidate coding elements. We verified that most of the common (shared by ≥7 individuals) missing regions exist in human and chimpanzee DNA. Moreover, we further identified the occurrence mechanism and ethnic heterogeneity as well as the presence of the common missing regions. This study illuminates a potential advantage of using a pangenome reference and brings up the need for further investigations on the various features of regions globally missed in GRCh38.

6.
Nutrients ; 12(11)2020 Nov 10.
Artículo en Inglés | MEDLINE | ID: mdl-33182633

RESUMEN

The purpose of this study was to examine the association of urinary sodium-to-creatinine ratio and potassium-to-creatinine ratio with blood pressure in a cross-sectional study comprising Korean adults who participated in the Healthy Twin Study. The participants consisted of 2653 men and women in the Healthy Twin Study aged ≥19 years. Participants' urinary excretion of sodium, potassium, and creatinine was measured from overnight half-day urine samples. Food intake was assessed using a validated food frequency questionnaire. We examined systolic and diastolic blood pressures according to sodium- or potassium-to-creatinine ratios using the generalized linear model. We determined food groups explaining high urinary sodium- or potassium-to-creatinine ratio using the reduced rank regression and calculated sodium- or potassium-contributing food score. We observed that systolic blood pressure was higher among men and women in the highest quintile of urinary sodium-to-creatinine ratio or sodium-to-potassium ratio than it was in the lowest quintile. Geometric means (95% CIs) of the lowest and the highest quintiles of systolic blood pressure (mmHg) were 113.4 (111.8-115.0) and 115.6 (114.1-117.2; P for trend = 0.02), respectively, for sodium-to-creatinine ratio. The association between urinary sodium-to-creatinine and systolic blood pressure was more pronounced among individuals whose body mass index (BMI) was less than 25 kg/m2 (P for interaction = 0.03). We found that vegetables, kimchi and seaweed intake contributed to high sodium intake and a sodium-contributing food score were associated with increased blood pressure. In our study, we identified the food groups contributing to high sodium intake and found that high urinary sodium levels were associated with increasing blood pressure among Korean adults.

7.
Thorax ; 2020 Oct 28.
Artículo en Inglés | MEDLINE | ID: mdl-33115937

RESUMEN

BACKGROUND: The prevalence of non-tuberculous mycobacterial pulmonary disease (NTM-PD) is increasing in South Korea and many parts of the world. However, the genetic factors underlying susceptibility to this disease remain elusive. METHODS: To identify genetic variants in patients with NTM-PD, we performed a genome-wide association study with 403 Korean patients with NTM-PD and 306 healthy controls from the Healthy Twin Study, Korea cohort. Candidate variants from the discovery cohort were subsequently validated in an independent cohort. The Genotype-Tissue Expression (GTEx) database was used to identify expression quantitative trait loci (eQTL) and to conduct Mendelian randomisation (MR). RESULTS: We identified a putatively significant locus on chromosome 7p13, rs849177 (OR, 2.34; 95% CI, 1.71 to 3.21; p=1.36×10-7), as the candidate genetic variant associated with NTM-PD susceptibility. Its association was subsequently replicated and the combined p value was 4.92×10-8. The eQTL analysis showed that a risk allele at rs849177 was associated with lower expression levels of STK17A, a proapoptotic gene. In the MR analysis, a causal effect of STK17A on NTM-PD development was identified (ß, -4.627; 95% CI, -8.768 to -0.486; p=0.029). CONCLUSIONS: The 7p13 genetic variant might be associated with susceptibility to NTM-PD in the Korean population by altering the expression level of STK17A.

8.
Clin Epigenetics ; 12(1): 158, 2020 Oct 22.
Artículo en Inglés | MEDLINE | ID: mdl-33092643

RESUMEN

BACKGROUND: DNA methylation-based biological age (DNAm age) is an important biomarker for adult health. Studies in specific age ranges have found widely varying results about its genetic and environmental causes of variation. However, these studies are not able to provide a comprehensive view of the causes of variation over the lifespan. RESULTS: In order to investigate the genetic and environmental causes of DNAm age variation across the lifespan, we pooled genome-wide DNA methylation data for 4217 people aged 0-92 years from 1871 families. DNAm age was calculated using the Horvath epigenetic clock. We estimated familial correlations in DNAm age for monozygotic (MZ) twin, dizygotic (DZ) twin, sibling, parent-offspring, and spouse pairs by cohabitation status. Genetic and environmental variance components models were fitted and compared. We found that twin pair correlations were - 0.12 to 0.18 around birth, not different from zero (all P > 0.29). For all pairs of relatives, their correlations increased with time spent living together (all P < 0.02) at different rates (MZ > DZ and siblings > parent-offspring; P < 0.001) and decreased with time spent living apart (P = 0.02) at similar rates. These correlation patterns were best explained by cohabitation-dependent shared environmental factors, the effects of which were 1.41 (95% confidence interval [CI] 1.16 to 1.66) times greater for MZ pairs than for DZ and sibling pairs, and the latter were 2.03 (95% CI 1.13 to 9.47) times greater than for parent-offspring pairs. Genetic factors explained 13% (95% CI - 10 to 35%) of variation (P = 0.27). Similar results were found for another two epigenetic clocks, suggesting that our observations are robust to how DNAm age is measured. In addition, results for the other clocks were consistent with there also being a role for prenatal environmental factors in determining their variation. CONCLUSIONS: Variation in DNAm age is mostly caused by environmental factors, including those shared to different extents by relatives while living together and whose effects persist into old age. The equal environment assumption of the classic twin study might not hold for epigenetic aging.

9.
Sci Rep ; 10(1): 14590, 2020 09 03.
Artículo en Inglés | MEDLINE | ID: mdl-32883994

RESUMEN

The inflammatory process is known to increase the risk of gastric carcinogenesis, and both genetic and dietary factors are associated with inflammation. In the present study of 1,125 participants (373 cases and 752 controls), we determined whether the dietary inflammatory index (DII) is associated with the risk of gastric cancer (GC) and investigated whether a TNF polymorphism (rs1799964) modifies this association. Semi-quantitative food frequency questionnaire derived data were used to calculate the DII scores. Odds ratios (OR) and 95% confidence intervals (CI) were calculated using multivariable logistic models adjusted for confounders. When we stratified the data by sex, the association between GC and the DII was significant only among the women (OR, 2.27; 95% CI 1.25-4.19), and the DII effect on the risk of GC differed depending on the TNF genotype (OR, 2.30; 95% CI 1.27-4.24 in TT genotype; OR, 0.78; 95% CI 0.37-1.65 in CC + CT, p for interaction = 0.035). Furthermore, the association between the DII and GC was significant in the Helicobacter pylori-positive group; similarly, the effect differed based on the TNF genotype (OR, 1.76; 95% CI 1.13-2.73 in TT genotype; OR,0.98; 95% CI 0.54-1.77 in CT + CC, p for interaction = 0.034). In conclusion, rs1799964 may modify the effect of the DII on GC.

10.
J Nutr ; 150(10): 2635-2645, 2020 10 12.
Artículo en Inglés | MEDLINE | ID: mdl-32840624

RESUMEN

BACKGROUND: Excess sodium intake and insufficient potassium intake are risk factors for hypertension, but there is limited knowledge regarding genetic factors that influence intake. Twenty-hour or half-day urine samples provide robust estimates of sodium and potassium intake, outperforming other measures such as spot urine samples and dietary self-reporting. OBJECTIVE: The aim of this study was to investigate genomic regions associated with sodium intake, potassium intake, and sodium-to-potassium ratio measured from 24-h or half-day urine samples. METHODS: Using samples of European ancestry (mean age: 54.2 y; 52.3% women), we conducted a meta-analysis of genome-wide association studies in 4 cohorts with 24-h or half-day urine samples (n = 6,519), followed by gene-based analysis. Suggestive loci (P < 10-6) were examined in additional European (n = 844), African (n = 1,246), and Asian (n = 2,475) ancestry samples. RESULTS: We found suggestive loci (P < 10-6) for all 3 traits, including 7 for 24-h sodium excretion, 4 for 24-h potassium excretion, and 4 for sodium-to-potassium ratio. The most significant locus was rs77958157 near cocaine- and amphetamine-regulated transcript prepropeptide (CARTPT) , a gene involved in eating behavior and appetite regulation (P = 2.3 × 10-8 with sodium-to-potassium ratio). Two suggestive loci were replicated in additional samples: for sodium excretion, rs12094702 near zinc finger SWIM-type containing 5 (ZSWIM5) was replicated in the Asian ancestry sample reaching Bonferroni-corrected significance (P = 0.007), and for potassium excretion rs34473523 near sodium leak channel (NALCN) was associated at a nominal P value with potassium excretion both in European (P = 0.043) and African (P = 0.043) ancestry cohorts. Gene-based tests identified 1 significant gene for sodium excretion, CDC42 small effector 1 (CDC42SE1), which is associated with blood pressure regulation. CONCLUSIONS: We identified multiple suggestive loci for sodium and potassium intake near genes associated with eating behavior, nervous system development and function, and blood pressure regulation in individuals of European ancestry. Further research is needed to replicate these findings and to provide insight into the underlying genetic mechanisms by which these genomic regions influence sodium and potassium intake.

11.
Br J Ophthalmol ; 2020 Aug 11.
Artículo en Inglés | MEDLINE | ID: mdl-32788326

RESUMEN

PURPOSE: To evaluate genetic influence on macular ganglion cell inner plexiform layer (GCIPL) thickness. METHODS: Macular GCIPL thickness was measured with optical coherence tomography in nine macular subfields defined by the E TDRS. Intraclass correlation coefficients (ICC) of GCIPL thickness by different types of family relationships were estimated to assess intrafamilial resemblance. Then, heritability of GCIPL thickness was estimated. RESULTS: Three hundred and sixty-one Korean adults from 89 families with normal healthy eyes were included. GCIPL thickness was highest in inner subfields and lowest in fovea. Monozygotic twin pairs showed significantly higher ICCs of GCIPL thickness in all subfields compared to those in parent-offspring pairs and sibling pairs. GCIPL thickness was highly heritable in the centre (0.71) and outer subfields but moderate to highly heritable in inner subfields. Heritability of GCIPL thickness in outer subfields was 0.69, 0.67, 0.72 and 0.68 for superior, inferior, temporal and nasal fields, respectively. Heritability of GCIPL thickness in inner subfields was 0.55, 0.56, 0.75 and 050 for superior, inferior, temporal and nasal subfields, respectively. CONCLUSION: Macular GCIPL thickness is significantly influenced by genetic factors. It varies according to subfields with moderate to high heritability in all subfields.

12.
Artículo en Inglés | MEDLINE | ID: mdl-32722593

RESUMEN

The association between coffee consumption and the risk of type 2 diabetes may vary by genetic variants. Our study addresses the question of whether the incidence of type 2 diabetes is related to the consumption of coffee and whether this relationship is modified by polymorphisms related to type 2 diabetes. We performed a pooled analysis of four Korean prospective studies that included 71,527 participants; median follow-up periods ranged between 2 and 13 years. All participants had completed a validated food-frequency questionnaire (FFQ) at baseline. The odds ratios (ORs) and 95% confidence intervals (CIs) for type 2 diabetes were calculated using logistic regression models. The ORs were combined using a fixed or random effects model depending on the heterogeneity across the studies. Compared with 0 to <0.5 cups/day of coffee consumption, the OR for type 2 diabetes was 0.89 (95% CI: 0.80-0.98, p for trend = 0.01) for ≥3 cups/day of coffee consumption. We did not observe significant interactions by five single nucleotide polymorphisms (SNPs) related to type 2 diabetes (CDKAL1 rs7756992, CDKN2A/B rs10811661, KCNJ11 rs5215, KCNQ1 rs163184, and PEPD rs3786897) in the association between coffee and the risk of type 2 diabetes. We found that coffee consumption was inversely associated with the risk of type 2 diabetes.


Asunto(s)
Glucemia/metabolismo , Café , Diabetes Mellitus Tipo 2/genética , Intolerancia a la Glucosa/epidemiología , Polimorfismo de Nucleótido Simple/genética , Café/efectos adversos , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/epidemiología , Femenino , Humanos , Lactante , Masculino , Oportunidad Relativa , Polonia/epidemiología , Estudios Prospectivos , Factores de Riesgo , Factores Socioeconómicos , Encuestas y Cuestionarios
13.
Nutrients ; 12(8)2020 Jul 26.
Artículo en Inglés | MEDLINE | ID: mdl-32722627

RESUMEN

Habitual coffee consumption and its association with health outcomes may be modified by genetic variation. Adults aged 40 to 69 years who participated in the Korea Association Resource (KARE) study were included in this study. We conducted a genome-wide association study (GWAS) on coffee consumption in 7868 Korean adults, and examined whether the association between coffee consumption and the risk of prediabetes and type 2 diabetes combined was modified by the genetic variations in 4054 adults. In the GWAS for coffee consumption, a total of five single nucleotide polymorphisms (SNPs) located in 12q24.11-13 (rs2074356, rs11066015, rs12229654, rs11065828, and rs79105258) were selected and used to calculate weighted genetic risk scores. Individuals who had a larger number of minor alleles for these five SNPs had higher genetic risk scores. Multivariate logistic regression models were used to estimate the odds ratios (ORs) and 95% confidence intervals (95% CIs) to examine the association. During the 12 years of follow-up, a total of 2468 (60.9%) and 480 (11.8%) participants were diagnosed as prediabetes or type 2 diabetes, respectively. Compared with non-black-coffee consumers, the OR (95% CI) for ≥2 cups/day by black-coffee consumers was 0.61 (0.38-0.95; p for trend = 0.023). Similarly, sugared coffee showed an inverse association. We found a potential interaction by the genetic variations related to black-coffee consumption, suggesting a stronger association among individuals with higher genetic risk scores compared to those with lower scores; the ORs (95% CIs) were 0.36 (0.15-0.88) for individuals with 5 to 10 points and 0.87 (0.46-1.66) for those with 0 points. Our study suggests that habitual coffee consumption was related to genetic polymorphisms and modified the risk of prediabetes and type 2 diabetes combined in a sample of the Korean population. The mechanisms between coffee-related genetic variation and the risk of prediabetes and type 2 diabetes combined warrant further investigation.

14.
Sci Rep ; 10(1): 7974, 2020 05 14.
Artículo en Inglés | MEDLINE | ID: mdl-32409744

RESUMEN

Genetic factors explain a major proportion of human height variation, but differences in mean stature have also been found between socio-economic categories suggesting a possible effect of environment. By utilizing a classical twin design which allows decomposing the variation of height into genetic and environmental components, we tested the hypothesis that environmental variation in height is greater in offspring of lower educated parents. Twin data from 29 cohorts including 65,978 complete twin pairs with information on height at ages 1 to 69 years and on parental education were pooled allowing the analyses at different ages and in three geographic-cultural regions (Europe, North America and Australia, and East Asia). Parental education mostly showed a positive association with offspring height, with significant associations in mid-childhood and from adolescence onwards. In variance decomposition modeling, the genetic and environmental variance components of height did not show a consistent relation to parental education. A random-effects meta-regression analysis of the aggregate-level data showed a trend towards greater shared environmental variation of height in low parental education families. In conclusion, in our very large dataset from twin cohorts around the globe, these results provide only weak evidence for the study hypothesis.

15.
Front Genet ; 11: 329, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32373161

RESUMEN

Heterogeneity of lung function levels and risk for developing chronic obstructive pulmonary disease (COPD) among people exposed to the same environmental risk factors, such as cigarette smoking, suggest an important role of genetic factors in COPD susceptibility. To investigate the possible role of different genetic factors in COPD susceptibility across ethnicities. We used a population-stratified analysis for: (i) identifying ethnic-specific genetic susceptibility loci, (ii) developing ethnic-specific polygenic risk prediction models using those SNPs, and (iii) validating the models with an independent dataset. We elucidated substantial differences in SNP heritability and susceptibility loci for the disease across ethnicities. Furthermore, the application of three ethnic-specific prediction models to an independent dataset showed that the best performance is achieved when the prediction model is applied to a dataset with the matched ethnic sample. Our study validates the necessity of considering ethnic differences in COPD risk; understanding these differences might help in preventing COPD and developing therapeutic strategies.

16.
Korean J Pain ; 33(2): 153-165, 2020 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-32235016

RESUMEN

Background: Well-validated risk prediction models help to identify individuals at high risk of diseases and suggest preventive measures. A recent systematic review reported lack of validated prediction models for low back pain (LBP). We aimed to develop prediction models to estimate the 8-year risk of developing LBP and its recurrence. Methods: A population based prospective cohort study using data from 435,968 participants in the National Health Insurance Service-National Sample Cohort enrolled from 2002 to 2010. We used Cox proportional hazards models. Results: During median follow-up period of 8.4 years, there were 143,396 (32.9%) first onset LBP cases. The prediction model of first onset consisted of age, sex, income grade, alcohol consumption, physical exercise, body mass index (BMI), total cholesterol, blood pressure, and medical history of diseases. The model of 5-year recurrence risk was comprised of age, sex, income grade, BMI, length of prescription, and medical history of diseases. The Harrell's C-statistic was 0.812 (95% confidence interval [CI], 0.804-0.820) and 0.916 (95% CI, 0.907-0.924) in validation cohorts of LBP onset and recurrence models, respectively. Age, disc degeneration, and sex conferred the highest risk points for onset, whereas age, spondylolisthesis, and disc degeneration conferred the highest risk for recurrence. Conclusions: LBP risk prediction models and simplified risk scores have been developed and validated using data from general medical practice. This study also offers an opportunity for external validation and updating of the models by incorporating other risk predictors in other settings, especially in this era of precision medicine.

17.
J Korean Med Sci ; 35(14): e97, 2020 Apr 13.
Artículo en Inglés | MEDLINE | ID: mdl-32281314

RESUMEN

BACKGROUND: While evidence shows a tendency toward delays in menopause worldwide, whether prevalence of premature (< 40 years) or early menopause (40-44 years) is also reduced in different ethnic groups is uncertain. The aim of this study was to explore birth cohort effect in the prevalence of premature and early menopause in United States (US) and Korea. METHODS: This is a retrospective study using the National Health and Nutrition Examination Survey (NHANES, 1999-2014) and the Korea NHANES (KNHANES, 2007-2012). We analyzed prevalence of premature and early menopause in three ethnic groups of US and Korea. We restricted our analysis to women aged ≥ 45 years at the time of the survey born between 1920 and 1969. The data of both eligible 9,209 US women and 9,828 Korean was included in final analysis. We calculated odds ratios (OR) for each outcome adjusting for biological and socioeconomic factors, respectively. RESULTS: Prevalence of premature menopause was 1.7% in US, 2.8% in Korean women. Early menopause occurred in 3.4% and 7.2% of US and Korean, respectively. In US women, prevalence of premature and early menopause did not change and did not differ across three ethnicities. Korean women showed highest and consistently decreasing prevalence (P < 0.001). When we adjusted for covariates, birth lower risk for premature menopause was evident in US Non-Hispanic black born in 1950s and in Korean born between 1940s and 1960s compared to those born in 1920s. In the analysis of early menopause, excluding premature menopause patients, lower risk of more recent generation (born in 1940s and later) was evident in Korean women. CONCLUSION: The trend and birth cohort effect in occurrence of premature and early menopause among the US and Korea women are different. Prevalences of premature and early menopause decrease only in Korean.


Asunto(s)
Menopausia , Adulto , Femenino , Humanos , Menopausia Prematura , Persona de Mediana Edad , Evaluación Nutricional , Nacimiento Prematuro/epidemiología , Prevalencia , República de Corea/epidemiología , Estudios Retrospectivos , Factores Socioeconómicos , Encuestas y Cuestionarios , Estados Unidos/epidemiología
18.
Investig Clin Urol ; 61(2): 188-199, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-32158970

RESUMEN

Purpose: Well-validated risk prediction models help to stratify individuals on the basis of their disease risks and to guide health care professionals in decision-making. The incidence of nephrolithiasis has been increasing in Korea. Racial differences in the distribution of and risk for nephrolithiasis have been reported in Asia but no population-specific nephrolithiasis models have been developed. We aimed to develop a simplified nephrolithiasis prediction model for the Korean population by using data from general medical practice. Materials and Methods: This was a prospective, population-based cohort study in Korea. A total of 497,701 participants from the National Health Insurance Service-National Sample Cohort (NHIS-NSC) were enrolled from 2002 to 2010. A Cox proportional hazards model was used. Results: During a median follow-up time of 8.5 years (range, 2.0-8.9 years) and among 497,701 participants, there were 15,783 cases (3.2%) of nephrolithiasis. The parsimonious model included age, sex, income grade, alcohol consumption, body mass index, total cholesterol, fasting blood glucose, and medical history of diseases. The Harrell's C-statistic was 0.806 (95% confidence interval [CI], 0.790-0.821) and 0.805 (95% CI, 0.782-0.827) in the derivation and validation cohorts, respectively. Conclusions: The results of the present study imply that nephrolithiasis risk can be predicted by use of data from general medical practice and based on predictors that clinicians and individuals from the general population are likely to know. This model comprises modifiable risk factors and can be used to identify those at higher risk who can modify their lifestyle to lower their risk for nephrolithiasis. This study also offers an opportunity for external validation or updating of the model through the incorporation of other risk predictors in other settings.

19.
J Clin Med ; 9(3)2020 Feb 26.
Artículo en Inglés | MEDLINE | ID: mdl-32110975

RESUMEN

This commentary is about predicting a woman's breast cancer risk from her mammogram, building on the work of Wolfe, Boyd and Yaffe on mammographic density. We summarise our efforts at finding new mammogram-based risk predictors, and how they combine with the conventional mammographic density, in predicting risk for interval cancers and screen-detected breast cancers across different ages at diagnosis and for both Caucasian and Asian women. Using the OPERA (odds ratio per adjusted standard deviation) concept, in which the risk gradient is measured on an appropriate scale that takes into account other factors adjusted for by design or analysis, we show that our new mammogram-based measures are the strongest of all currently known breast cancer risk factors in terms of risk discrimination on a population-basis. We summarise our findings graphically using a path diagram in which conventional mammographic density predicts interval cancer due to its role in masking, while the new mammogram-based risk measures could have a causal effect on both interval and screen-detected breast cancer. We discuss attempts by others to pursue this line of investigation, the measurement challenge that allows different measures to be compared in an open and transparent manner on the same datasets, as well as the biological and public health consequences.

20.
Sci Rep ; 10(1): 2481, 2020 Feb 07.
Artículo en Inglés | MEDLINE | ID: mdl-32034279

RESUMEN

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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