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Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus
ObjectiveSystemic lupus erythematosus (SLE), an autoimmune disorder, has been associated with nearly 100 susceptibility loci. Nevertheless, these loci only partially explain SLE heritability and their putative causal variants are rarely prioritised, which make challenging to elucidate disease biology. To detect new SLE loci and causal variants, we performed the largest genome-wide meta-analysis for SLE in East Asian populations.MethodsWe newly genotyped 10 029 SLE cases and 180 167 controls and subsequently meta-analysed them jointly with 3348 SLE cases and 14 826 controls from published studies in East Asians. We further applied a Bayesian statistical approach to localise the putative causal variants for SLE associations.ResultsWe identified 113 genetic regions including 46 novel loci at genome-wide significance (p<5×10−8). Conditional analysis detected 233 association signals within these loci, which suggest widespread allelic heterogeneity. We detected genome-wide associations at six new missense variants. Bayesian statistical fine-mapping analysis prioritised the putative causal variants to a small set of variants (95% credible set size ≤10) for 28 association signals. We identified 110 putative causal variants with posterior probabilities ≥0.1 for 57 SLE loci, among which we prioritised 10 most likely putative causal variants (posterior probability ≥0.8). Linkage disequilibrium score regression detected genetic correlations for SLE with albumin/globulin ratio (rg=−0.242) and non-albumin protein (rg=0.238).ConclusionThis study reiterates the power of large-scale genome-wide meta-analysis for novel genetic discovery. These findings shed light on genetic and biological understandings of SLE.
Journal Article
Association between screening and the thyroid cancer “epidemic” in South Korea: evidence from a nationwide study
Objective To investigate whether screening for thyroid cancer led to the current “epidemic” in South Korea.Design Review of the medical records of nationally representative samples of patients with a diagnosis of thyroid cancer in 1999, 2005, and 2008.Setting Sample cases were randomly selected from South Korea’s nationwide cancer registry, using a systematic sampling method after stratification by region.Participants 5796 patients with thyroid cancer were included (891 in 1999, 2355 in 2005, and 2550 in 2008).Main outcome measures The primary outcome was age standardised incidence of thyroid cancer and the changes in incidence between 1999 and 2008 according to the methods used to detect tumours (screen detection versus clinical detection versus unspecified).Results Between 1999 and 2008, the incidence of thyroid cancer increased 6.4-fold (95% confidence interval 4.9-fold to 8.4-fold), from 6.4 (95% confidence interval 6.2 to 6.6) per 100 000 population to 40.7 (40.2 to 41.2) per 100 000 population. Of the increase, 94.4% (34.4 per 100 000 population) were for tumours less than 20 mm, which were detected mainly by screening. 97.1% of the total increase was localised and regional tumours according to the Surveillance, Epidemiology, and End Results (SEER) summary stage. Where cases were clinically detected, 99.9% of the increased incidences (6.4 per 100 000 population) over the same period were tumours less than 20 mm.Conclusion The current “epidemic” of thyroid cancer in South Korea is due to an increase in the detection of small tumours, most likely as a result of overdetection. Concerted efforts are needed at a national level to reduce unnecessary thyroid ultrasound examinations in the asymptomatic general population.
Journal Article
Suicide and Ambient Temperature: A Multi-Country Multi-City Study
Previous literature suggests that higher ambient temperature may play a role in increasing the risk of suicide. However, no multi-country study has explored the shape of the association and the role of moderate and extreme heat across different locations.
We examined the short-term temperature-suicide relationship using daily time-series data collected for 341 locations in 12 countries for periods ranging from 4 to 40 y.
We conducted a two-stage meta-analysis. First, we performed location-specific time-stratified case-crossover analyses to examine the temperature-suicide association for each location. Then, we used a multivariate meta-regression to combine the location-specific lag-cumulative nonlinear associations across all locations and by country.
A total of 1,320,148 suicides were included in this study. Higher ambient temperature was associated with an increased risk of suicide in general, and we observed a nonlinear association (inverted J-shaped curve) with the highest risk at 27°C. The relative risk (RR) for the highest risk was 1.33 (95% CI: 1.30, 1.36) compared with the risk at the first percentile. Country-specific results showed that the nonlinear associations were more obvious in northeast Asia (Japan, South Korea, and Taiwan). The temperature with the highest risk of suicide ranged from the 87th to 88th percentiles in the northeast Asian countries, whereas this value was the 99th percentile in Western countries (Canada, Spain, Switzerland, the UK, and the United States) and South Africa, where nearly linear associations were estimated. The country-specific RRs ranged from 1.31 (95% CI: 1.19, 1.44) in the United States to 1.65 (95% CI: 1.40, 1.93) in Taiwan, excluding countries where the results were substantially uncertain.
Our findings showed that the risk of suicide increased with increasing ambient temperature in many countries, but to varying extents and not necessarily linearly. This temperature-suicide association should be interpreted cautiously, and further evidence of the relationship and modifying factors is needed. https://doi.org/10.1289/EHP4898.
Journal Article
Among women across worlds : North Korea in the global Cold War
In Among Women across Worlds, Suzy Kim explores the transnational connections between North Korean women and the global women's movement. Asian women, especially communists, are often depicted as victims of a patriarchal state. Kim challenges this view through extensive archival research, revealing that North Korean women asserted themselves from the late 1940s to 1975, before the Korean War began and up to the UN's International Women's Year. Kim centers on North Korea and the \"East\" to present a new genealogy of the global women's movement. Women of the Korean Democratic Women's Union (KDWU), part of the global left women's movement led by the Women's International Democratic Federation (WIDF), argued that family and domestic issues should be central to both national and international debates. They highlighted the connections between race, nationality, sex, and class in systems of exploitation. Their intersectional program proclaimed \"no peace without justice,\" \"the personal is the political,\" and \"women's rights are human rights,\" long before Western activists adopted these ideas. Among Women across Worlds uncovers movements and ideas foundational to today's era.
eBook
Health-related quality of life among older adults who experienced the Pohang earthquake in South Korea: A cross-sectional survey
Background
Earthquakes are global natural disasters and can cause loss of property, livelihood and affect human health. A 5.4 magnitude earthquake, the Pohang earthquake, occurred in South Korea in 2017. In this study, based on a health-related quality of life (HRQOL) conceptual model, we examined the HRQOL and its associated factors among older adults who had experienced the earthquake.
Methods
A cross-sectional study was conducted with a quota sample of 312 older adults living in eight villages of a district that was the most damaged area during the Pohang earthquake. Data were collected from January 15–March 19, 2019, via face-to-face interviews using structured questionnaires. Structural equation modeling was performed to explore the associations among depression, posttraumatic stress symptoms, community resilience, social support, disaster preparedness, and HRQOL.
Results
The mean age of the participants was 77.93 ± 6.11 years. HRQOL scores were 49.85 ± 18.07 (physical health), 50.16 ± 18.75 (psychological health), 61.93 ± 19.20 (social relations), and 49.53 ± 16.37 (environment). The structural equation modeling analysis showed a good fit. Depression had direct (
β
= − 2.21;
p
< 0.001), indirect (
β
=− 0.23;
p
< 0.001), and total effects on HRQOL (
β
= − 2.44;
p
< 0.001). Community resilience (
β
= 6.05;
p
= 0.001) and social support (
β
= 0.12,
p
= 0.001) had direct and total effects on HRQOL. Disaster preparedness had indirect (
β
= 0.40;
p
= 0.001) and total (
β
= 0.69,
p
= 0.031) effects on HRQOL. In contrast, posttraumatic stress symptoms did not have significant effects on HRQOL.
Conclusions
Our findings indicated that lower depression, higher community resilience, social support, and disaster preparedness were associated with increased HRQOL. Thus, it is helpful to decrease depression and strengthen community resilience, social support, and disaster preparedness to promote HRQOL among older adults who have experienced earthquakes. These results can inform the development of HRQOL in socio-psychological improvement programs for older adults in community health centers and disaster-relief psychological support centers.
Journal Article
Effect of dementia on all-cause mortality in hip fracture surgery: a retrospective study on a nationwide Korean cohort
ObjectivesWe aimed to evaluate the effect of dementia on the 1-year all-cause mortality in elderly patients who underwent hip fracture surgery, using a nationwide cohort in Korea.Design, setting, and participantsThis was a nationwide, retrospective study. Elderly patients (≥60 years) with and without dementia who underwent hip fracture surgery between January 2005 and December 2012 were distinguished using the data from the Korean National Health Insurance Service-Senior cohort.InterventionsNone.Primary and secondary outcome measuresThe mortality rates with 95% CIs and the impact of dementia on all-cause mortality were calculated using a generalised linear model with Poisson distribution and a multivariable-adjusted Cox proportional hazards model, respectively.ResultsAmong the 10 833 patients who underwent hip fracture surgery, 13.4% were diagnosed with dementia. During the 1-year follow-up period, 1586 patients with hip fracture without dementia died in 8356.5 person-years (incidence rate (IR)=189.2 per 1000 person-years, 95% CI 179.91 to 198.99), while 340 deaths were confirmed in patients with hip fracture with dementia in 1240.8 person-years (IR, 273.1 per 1000 person-years, 95% CI 244.94 to 304.58). Patients with hip fracture and dementia were 1.23 times more likely to die than those in the control group in the same period (HR=1.23, 95% CI 1.09 to 1.39).ConclusionDementia is a risk factor for 1-year all-cause mortality after hip fracture surgery. To improve the postoperative outcomes of patients with dementia who have undergone hip fracture surgery, effective treatment models such as multidisciplinary diagnosis and strategic rehabilitation should be established.
Journal Article
Double burden of malnutrition and obesity in children and adolescents from North Korean refugee families
This study assessed the nutritional status of children and adolescents from North Korean refugee (NKR) families who have settled and are living in South Korea (SK). Among the 547 individuals who participated in the study, 526 were ultimately included after excluding 21 with missing height or weight data. Their nutritional status was estimated using the 2017 Korean National Growth Charts for children and adolescents. Stunting, underweight, wasting, and obesity were defined as a height-for-age z-score < −2.0, weight-for-age z-score < −2.0, weight-for-height z-score < −2.0, and body mass index z-score > 2.0, respectively. The overall prevalence of stunting, underweight, wasting, and obesity was 7.0%, 6.8%, 5.3%, and 9.1%, respectively. Meanwhile, the prevalence of stunting, underweight, wasting, and obesity was 5.4%, 7.0%, 7.6%, and 10.3% for individuals settled in SK for <5 years and 6.1%, 6.1%, 0.0%, and 13.3% for those living in SK for ≥5 years, respectively. Therefore, children and adolescents from NKR families experience the double burden of malnutrition and obesity.
Journal Article
Factors Predictive of Adverse Events Following Endoscopic Papillary Large Balloon Dilation: Results from a Multicenter Series
Background
Lack of established guidelines for endoscopic papillary large balloon dilation (EPLBD) may be a reason for aversion of its use in removal of large common bile duct (CBD) stones.
Aims
We sought to identify factors predictive of adverse events (AEs) following EPLBD.
Methods
This multicenter retrospective study investigated 946 consecutive patients who underwent attempted removal of CBD stones ≥10 mm in size using EPLBD (balloon size 12–20 mm) with or without endoscopic sphincterotomy (EST) at 12 academic medical centers in Korea and Japan.
Results
Ninety-five (10.0 %) patients exhibited AEs including bleeding in 56, pancreatitis in 24, perforation in nine, and cholangitis in six; 90 (94.7 %) of these were classified as mild or moderate in severity. There were four deaths, three as a result of perforation and one due to delayed massive bleeding. Causative factors identified in fatal cases were full-EST and continued balloon inflation despite a persistent waist seen fluoroscopically. Multivariate analyses showed that cirrhosis (OR 8.03,
p
= 0.003), length of EST (full-EST: OR 6.22,
p
< 0.001) and stone size (≥16 mm: OR 4.00,
p
< 0.001) were associated with increased bleeding, and distal CBD stricture (OR 17.08,
p
< 0.001) was an independent predictor for perforation. On the other hand, balloon size was associated with deceased pancreatitis (≥14 mm: OR 0.27,
p
= 0.015).
Conclusions
EPLBD appears to be a safe and effective therapeutic approach for retrieval of large stones in patients without distal CBD strictures and when performed without full-EST.
Journal Article
Two independent variants of epidermal growth factor receptor associated with risk of glioma in a Korean population
Gliomas are the most common primary tumors in the brain and spinal cord. In previous GWASs, SNPs in
epidermal growth factor receptor
(
EGFR
) have been reported as risk loci for gliomas. However,
EGFR
variants associated with gliomas in the Korean population remain unstudied. This study explored the association of
EGFR
SNPs with the risk of glioma. We genotyped 13
EGFR
exon SNPs in a case–control study that included 324 Korean patients diagnosed with glioma and 480 population-based controls. Statistical analyses of the association between
EGFR
SNPs and glioma risk were conducted using logistic regression. Both stepwise analysis and conditional logistic analysis were performed to identify independent associations among genotyped variants. We confirmed that two SNPs (
rs2227983, rs1050171
) were significantly associated with glioma (
rs2227983
: odds ratio = 1.42,
P
corr
= 0.009;
rs1050171
: odds ratio = 1.68,
P
corr
= 0.005). Additionally, the stepwise analysis and conditional logistic analysis indicated that both SNPs created variants with independent genetic effects. This study is the first to show evidence that functional variants of
EGFR
, namely,
rs2227983
(K521R) and
rs1050171
(Q787Q), are associated with an increased risk of glioma in the Korean population. Future work should confirm the functional association between
EGFR
variants and glioma.
Journal Article