Discovery and Evaluation of Polymorphisms in the AKT2 and AKT3 Promoter Regions for Risk of Korean Lung Cancer

성재숙,김열홍,박경화,김승태 한국유전체학회 2012 Genomics & informatics Vol.10 No.3

AKT is a signal transduction protein that plays a central role in the tumorigenesis. There are 3 mammalian isoforms of this serine/threonine protein kinase-AKT1, AKT2, and AKT3-showing a broad tissue distribution. We first discovered 2 novel polymorphisms (AKT2 -9826 C/G and AKT3 -811 A/G), and we confirmed 6 known polymorphisms (AKT2 -9473 C/T, AKT2 -9151 C/T,AKT2 -9025 C/T, AKT2 -8618G/A, AKT3 -675 A/-, and AKT3 -244 C/T) of the AKT2 and AKT3 promoter region in 24 blood samples of Korean lung cancer patients using direct sequencing. To evaluate the role of AKT2 and AKT3 polymorphisms in the risk of Korean lung cancer, genotypes of the AKT2 and AKT3 polymorphisms (AKT2 -9826 C/G, AKT2 -9473 C/T, AKT2 -9151 C/T, AKT2 -9025 C/T,AKT2 -8618G/A, and AKT3 -675 A/-) were determined in 360 lung cancer patients and 360 normal controls. Statistical analyses revealed that the genotypes and haplotypes in the AKT2 and AKT3 promoter regions were not significantly associated with the risk of lung cancer in the Korean population. These results suggest that polymorphisms of the AKT2 and AKT3 promoter regions do not contribute to the genetic susceptibility to lung cancer in the Korean population.

No Association between PIK3CA Polymorphism and Lung Cancer Risk in the Korean Population

성재숙,박경화,김승태,서재홍,신상원,김준석,김열홍 한국유전체학회 2010 Genomics & informatics Vol.8 No.4

The PIK3CA gene, oncogenic gene located on human chromosome 3q26.3, is an important regulator of cell proliferation, death, motility and invasion. To evaluate the role of PIK3CA gene in the risk of Korean lung cancer, genotypes of the PIK3CA polymorphisms (rs11709323, rs2699895, rs3729679, rs17849074 and rs1356413) were determined in 423 lung cancer patients and 443 normal controls. Statistical analyses revealed that the genotypes and haplotypes in the PIK3CA gene were not significantly associated with the risk of lung cancer in the Korean population, suggesting that these PIK3CA polymorphisms do not contribute to the genetic susceptibility to lung cancer in the Korean population.

No Association between Promoter Polymorphism of STK11 Gene and Lung Cancer Risk in the Korean Population

성재숙,박경화,최종권,서재홍,신상원,김준석,김열홍,황영미,류정선 대한암학회 2009 Cancer Research and Treatment Vol.41 No.4

Purpose Serine-threonine kinase11 (STK11) was originally identified in 1997 as the causative mutation that’s responsible for Peutz-Jeghers Syndrome (PJS). Several recent studies have reported that the STK11 gene is an important human tumor suppressor gene in lung cancer. We evaluated the associations between the polymorphisms of the STK11 promoter region and the risk of lung cancer in 901 Koreans. Materials and Methods By direct sequencing, we first discovered three novel polymorphisms (-1,795 T>C, -981 C>T and -160 G>T) and four known polymorphisms (-1,580 C>T, -1,494 A>C, -881 A>G and -458 G>C) of the STK11 promoter region in 24 blood samples of 24 Korean lung cancer patients. Further genotype analyses were then performed on 443 lung cancer patients and 458 controls. Results We discovered three novel polymorphisms and we identified four known polymorphisms of the STK11 promoter region in a Korean population. Statistical analyses revealed that the genotypes and haplotypes in the STK11 gene were not significantly associated with the risk of lung cancer in a Korean population. Conclusion This is the first study that’s focused on the association of STK11 promoter polymorphisms and the risk of lung cancer in a Korean population. To evaluate the role of the STK11 gene for the risk of lung cancer, the genotypes of the STK11 promoter region (-1,795 T>C, -1,494 A>C and -160 G>T) were determined in 901 Koreans, yet the result revealed no significant difference between the lung cancer patients and the controls. These results suggest that the three promoter polymorphisms we studied are not important risk factors for the susceptibility to lung cancer in Koreans.

웰에이징 시대의 치매관리정책 전략적 분석 연구 - AHP 분석 중심

성재숙(Jae Suk Sung) 한국복지실천학회 2024 한국복지실천학회지 Vol.15 No.1

본 연구의 목적은 정부에서 치매인구의 증가, 돌봄 문화의 변화, 비용 부담 완화 등의 목적을 위하여 추진중인 ‘제4차 치매관리종합계획(2021-2025)’이 수요자의 정책적 욕구를 포괄하고 있는지 다각도에서 검토할 필요성이 제기되었으며, 각종 치매관리정책을 통해 삶의 질 개선, 웰에이징, 좋은죽음에 이르게 될 것이다(성재숙 외, 2024). 이를 위하여 수도권 지역에 거주하는 돌봄가족집단(13명)과 돌봄잠재집단(14명), 돌봄전문가집단(11명)의 총 38명을 대상으로 집단별 욕구정책의 우선순위를 분석하였다. 국가치매관리정책의 정책목표와 정책수단을 계층화 구조로 구성하여 계층적 의사결정분석(AHP)을 실시하였으며, SPSS ver. 23 및 Expert Choice ver. 11.5를 이용하여 가중치 산정 및 정책적 욕구 분석, 우선순위 선정 분석을 실시하였다. 정부에서의 치매돌봄강화 영역에 대한 계층화 분석 결과의 우선순위는 ‘치매조기발견’, ‘치매치료 전문성강화’, ‘가족서비스 다양화’ 치매정책에 우선의 필요성을 제기하고 있으며, 치매지원제도강화 영역에 대한 우선순위는 ‘의료요양확충’, ‘인식개선홍보’, ‘의료요양전문화’ 등의 치매정책에 우선의 필요성을 제기하고 있음에 따라 치매관련 정책사업의 예산 배정 및 조기 사업 추진 등의 다양한 노력이 있어야 할 것이다. The purpose of this study is to raise the need to consider from multiple angles whether the Fourth Comprehensive Dementia Management Plan (2021-2025), which is being promoted by the government for the purpose of increasing the dementia population, changing the care culture, and easing the cost burden, encompasses the policy needs of consumers, and various dementia management policies will lead to improved quality of life, well aging, and a good death (Song Jae-sook et al., 2024). To this end, we analyzed the priority of policy needs by group for a total of 38 people, including the caregiver family group (13 people), potential caregiver group (14 people), and care professional group (11 people) living in the metropolitan area, and presented the results. As a quantitative method to achieve the purpose of this study, we constructed the policy goals and policy measures of the national dementia management policy in a hierarchical structure and performed hierarchical decision analysis (AHP). 23 and Expert Choice ver. 11.5 were used to calculate weights, analyze policy needs, and select and analyze priorities. The subjects of the study were divided into the caregiver family group, the potential caregiver group in the near future, and the care professional group, and looked at the priorities required by each group. The government's priorities for the areas in which dementia care needs to be strengthened based on the results of the stratified analysis suggest that priority should be given to dementia policies such as “early detection of dementia,” “strengthening the expertise of dementia treatment,” and “diversifying family services.” Meanwhile, the priorities for the area in which dementia support systems need to be strengthened suggest that priority should be given to dementia policies such as “expanding medical care,” “public relations to improve awareness,” and “a culture of specialized medical care.” Therefore, various efforts will be needed, such as allocating budgets to dementia-related policy projects and promoting projects early.

외로움과 사회적고립 정책 연구(1) - 선진국 사례 중심

성재숙(Jae Suk Sung), 유경민(Gyeong Min Yu), 김금환(Keum Hwan Kim) 한국복지실천학회 2026 한국복지실천학회지 Vol.17 No.2

본 연구는 주요 선진국 사례를 통해 1인가구의 외로움과 사회적고립 대응정책을 비교하고, 한국에 대한 시사점을 도출하는 데 목적이 있다. OECD에 따르면 혼자 사는 사람은 외로움을 더 많이 경험하며, 외로움과 사회적 연결의 결핍은 저소득, 고령, 사회경제적 취약성과 중첩되는 경향을 보인다. 이는 1인가구의 외로움과 사회적고립이 개인 감정의 문제가 아니라 건강과 불평등, 사회적 배제와 연결된 구조적 문제임을 보여준다. 영국은 사회적 처방을 통해 외로운 사람을 지역사회 활동과 연결하는 모델을 발전시켰으며, 일부 연구에서는 외로움 감소와 함께 GP 방문, 응급실 이용, 입원 감소가 보고되었다. 일본은‘고독·고립 대책 추진법’을 통해 외로움과 사회적고립을 국가와 지방정부의 책임으로 규정했지만, 시행 이후에도 외로움 비율은 39.3% 수준에 머물고 지역 간 실행 격차가 지속되는 한계가 나타났다. 본 연구는 한국의 정책이 세 방향에서 보완될 필요가 있다고 본다. 첫째, 외로움과 사회적고립을 의료비와 돌봄 부담을 증가시키는 사회적 비용의 문제로 인식하고 예방적 투자로 접근해야 한다. 둘째, 법과 제도가 실제로 고위험 1인가구에게 도달하도록 국가 전략과 지역 실행체계를 강화해야 한다. 셋째, 단순한 안부확인을 넘어 지역사회 관계 형성, 사회참여, 도움 요청 가능성을 넓히는 연결 중심 정책으로 전환할 필요가 있다. 이를 통해 외로움과 사회적고립 대응은 1인가구시대 한국 복지정책의 핵심 과제로 재구성될 수 있다. This study to compare policies addressing loneliness and social isolation in single households through case studies of major developed countries and derive implications for South Korea. According to the OECD, people living alone experience loneliness more frequently, and loneliness and lack of social connection tend to overlap with low income, old age, and socioeconomic vulnerability. This indicates that loneliness and social isolation in single households are not merely issues of personal feelings, but structural problems linked to health, inequality, and social exclusion. This study believes that South Korea's policies need to be complemented in three directions. Firstly, loneliness and social isolation must be recognized as social costs that increase the burden of medical expenses and care, and must be approached with preventative investment. Secondly, national strategies and local implementation systems need to be strengthened so that laws and institutions actually reach high-risk households. Thirdly, policies need to shift from simple safety checks to connection-centered policies that broaden the possibilities for community relationship building, social participation, and support requests. This will allow addressing loneliness and social isolation to be redefined as a core issue in Korean welfare policy in the era of single-households.

뷰티와 복지의 연계 방안 연구

성재숙(Jae Suk Sung), 유경민(Gyeong Min Yu), 김금환(Keum Hwan Kim) 한국복지실천학회 2026 한국복지실천학회지 Vol.17 No.1

약 본 논문은 뉴노멀 시대에 뷰티의 사회적 중요성이 증가하는 원인을 규명하고, 뷰티와 복지 연계 프로그램의 현황과 문제점을 분석하며, 후생경제학·법의량 이론·역량접근 이론의 통합적 관점에서 향후 정책 방향을 제시하는 것을 목적으로 한다. 본 연구는 문헌분석과 정책사례 분석을 통해 다음의 주요 결론을 도출하였다. 첫째, 고령화·1인가구 증가·웰에이징 욕구의 복합적 작용으로 뷰티의 사회적 기능이 재평가되고 있다. 둘째, 후생경제학 관점에서 뷰티복지는 긍정적 외부효과를 창출하는 준공공재로서 정부개입의 정당성이 확인된다. 셋째, 취약계층의 구조적 불평등과 역량 박탈 문제를 규명하고, 품위유지비 확대·복지미용사 인증제·융합 사회서비스 모델을 정책 방향으로 제안한다. 본 연구는 뷰티를 인간 존엄성 유지의 필수 역량으로 재개념화하고 사회적 후생 극대화를 위한 정책적 근거를 제시함으로써, 고령화 시대 포용적 복지정책의 새로운 패러다임을 제시하는 점에서 이론적·실천적 의의를 갖는다. This paper aims to investigate the reasons for the increasing social importance of beauty in the new normal era, analyze the current state and problems of beauty and welfare collaboration programs, and propose future policy directions from an integrated perspective of welfare economics, forensic quantitative theory, and competency approach theory. This study derived the following main conclusions through literature analysis and policy case analysis. First, the social function of beauty is being re-evaluated due to the combined effects of aging, an increase in the number of single-person households, and the desire for well-aging. Second, from the perspective of welfare economics, the legitimacy of government intervention is confirmed as that beauty and welfare are public assets that create positive external effects. Third, the structural inequality and competency deprivation problems of vulnerable groups are investigated, and policy directions such as increased spending on maintaining dignity, a certification system for welfare beauticians, and an integrated social service model are proposed. This study has theoretical and practical significance in that it reconceptualizes beauty as an essential competency for maintaining human dignity and presents policy justifications for maximizing social welfare, thereby presenting a new paradigm for inclusive welfare policies in the aging era.

뉴노멀의 고독사 결정요인 구조적 분석 연구

김금환(Keum Hwan Kim), 성재숙(Jae Suk Sung), 유경민(Gyeong Min Yu) 한국복지실천학회 2025 한국복지실천학회지 Vol.16 No.3

고독사예방법 시행 및 다양한 사회안전망 구축 노력을 기울이고 있으나 2023년 고독자 사망자수는 3,661명으로 늘어나고 있다. 이는 고독사를 야기하는 근본적인 트리거(Trigger, 방아쇠)를 해소하지 못하고, 회색코뿔소보듯 증상 완화 수준에 머물러 있음을 시사한다. 기존의 단순한 복지 자원의 부족 차원을 넘어선 다층적 이론 구조를 통해 분석하고 기존 사회안전망의 '기능적 실패' 지점을 진단할 필요가 있음에 따라 첫째, 후생경제학의 관점, 두번째는 센(Amartya Sen)의 역량 접근의 관점, 세번째는 도널드 블랙의 법의 행동 이론에 주목하여 심층 분석을 수행하였으며, 후생경제학적 제안은 다음과 같다. 첫번째, 단순히 생계비를 지원하는 현금 복지나 물품 지원을 넘어, 개인이 지역 내 교육, 취미, 자원봉사, 소규모 공동체 활동 등 사회적 관계를 맺고 유지하는 데 필요한 활동 비용을 지원하는 바우처를 도입해야 함을 제안한다. 두번째, 복지 재정의 재분배 및 인적-정서적 자원 투자 효율성 제고를 제안한다. 고독사 예방을 위한 복지 재정을 물리적 자원의 확보에서 인적-정서적 자원의 투자로 과감하게 재분배해야 한다. 고독사 위험군에게 접근하는 복지 전달 체계를 위한 사회복지사와 심리상담사 등의 전문인력을 확충하고, 이들의 심리 상담, 위기 개입 역량, 비대면 소통 기술 등의 전문성을 강화하는 데 투자를 집중해야 한다. Despite the implementation of the Kodokushi Prevention Act and efforts to build diverse social safety nets, the number of lonely deaths rose to 3,661 in 2023. This suggests that the underlying triggers of solitary deaths have not been addressed, and that, like the gray rhino, we are stuck at symptomatic relief. We need to analyze the issue through a multi-layered theoretical structure that goes beyond the simple lack of welfare resources and diagnose the “functional failure” of the existing social safety net. We offer three approaches: first, welfare economics; second, Amartya Sen's capacity approach; and third, Donald Black's legal theory. First, we propose that we go beyond cash welfare and in-kind assistance to simply cover living expenses and introduce vouchers to support activities necessary for individuals to establish and maintain social relationships, such as local education, hobbies, volunteer work, and small-scale community activities. Second, we propose redistributing welfare funds and improving the efficiency of human and emotional resource investment. To prevent solitary deaths, welfare funds must boldly redistribute from securing physical resources to investing in human and emotional resources. We must increase the number of specialized human resources, such as social workers and psychological counselors, to create a welfare communication system that approaches groups at risk of dying alone, and we must concentrate investment in strengthening their expertise in psychological counseling, crisis intervention skills, and interpersonal communication techniques.

1인가구 및 연령적 교통약자를 위한 복지정책 연구

김금환(Keum Hwan Kim), 최은숙(Eun Suk Choi), 성재숙(Jae Suk Sung) 한국복지실천학회 2025 한국복지실천학회지 Vol.16 No.2

본 연구는 고령화 및 1인 가구 급증이라는 뉴노멀 시대에 '연령적 교통약자'와 '경제적 교통약자'가 경험하는 이동권 제한 문제가 단순한 불편을 넘어 후생 손실과 심각한 사회적 배제로 이어지는 핵심적인 복지 문제임을 분석하였다. 헌법적 권리성이 간접적으로만 확인되는 이동권의 취약한 법적 지위는 경제적 약자를 포괄하는 종합적인 교통복지 정책 수립에 근본적인 장애 요인으로 작용하고 있음이 확인되었다. 정책적 시사점은 다음과 같다. 첫째, 공공 안전을 위한 운전면허 반납 정책은 개인의 상실된 이동권을 실질적으로 보상하는 지속 가능한 맞춤형 모빌리티 서비스(택시, DRT 바우처)로 구체화되어야 한다. 둘째, 수도권 중심의 무임승차 제도를 재조정하고 이 재원을 농어촌 지역 버스 지원 및 저소득 1인 가구의 모빌리티 비용 지원에 활용함으로써 교통복지 재원 배분의 형평성을 시급히 제고해야 한다. 셋째, 이동권을 명시하고 형평성을 정책 평가 기준으로 포함하는 교통기본법을 제정하여 경제적 약자까지 포괄하는 통합적 교통복지 시스템의 제도적 기초를 마련해야 한다. This study analyzed that in this new normal era of aging and the rapid increase in single-person households, the restrictions on mobility experienced by the “age- and economically disadvantaged” are a core welfare issue that goes beyond simple inconvenience and leads to welfare losses and serious social exclusion. The study confirmed that the weak legal status of mobility rights, which only indirectly confirms constitutional rights, acts as a fundamental obstacle to establishing comprehensive transportation welfare policies that inclusively encompass the economically disadvantaged. Policy implications are as follows: First, the driver's license surrender policy for public safety should be implemented as sustainable, customized mobility services (taxis, DRT vouchers) that effectively compensate individuals for their lost mobility rights. Second, the free ride system centered on the metropolitan area should be re-adjusted and the resulting funds should be used to support regional bus services in rural areas and to support the mobility costs of low-income single-person households, thereby urgently increasing the fairness of transportation welfare funding allocation. Third, we must enact a basic transport law that clearly defines the right to mobility and includes fairness as a policy evaluation criterion, thereby establishing the institutional foundations for an integrated transport welfare system that is inclusive of even the economically disadvantaged.

Association of Single Nucleotide Polymorphisms in PIM-1 Gene with the Risk of Korean Lung Cancer

김대식,성재숙,신은순,유정선,최인근,박경화,박용,김의배,박세종,김열홍 대한암학회 2008 Cancer Research and Treatment Vol.40 No.4

Purpose: The expression of the PIM-1 gene, which is a proto-oncogene that encodes a serine/threonine kinase, is associated with multiple cellular functions such as proliferation, differentiation, apoptosis and tumorigenesis. In particular, several studies have reported that the PIM-1 gene is associated with the development of lymphoma, leukemia and prostate cancer. Therefore, this study was conducted to evaluate the association between the single nucleotide polymorphisms in the PIM-1 gene and the risk of lung cancer occurrence in the Korean population. Materials and Methods: To evaluate the role of the PIM-1 gene in the development of lung cancer, the genotypes of the PIM-1 gene were determined in 408 lung cancer patients and 410 normal subjects. Results: We found that the T-C-T-C haplotypes of the PIM-1 gene (−1196 T>C, IVS4 +55 T>C, IVS4 +1416 T>A and +3684 C>A) were associated with an increased risk of lung cancer [adjusted odds ratio (aOR): 3.98; 95% CI: 1.24∼12.75, p-value: 0.020]. In particular, these haplotypes showed an increased risk of lung cancer in males (aOR: 5.67; 95% CI: 1.32∼24.30, p-value: 0.019) and smokers (aOR: 7.82; 95% CI: 1.75∼34.98, p-value: 0.007). Conclusions: The present results suggest that the T-C-T-C haplotype of the PIM-1 gene could influence the risk of developing smoking-related lung cancer in the Korean population. Additional functional studies with an larger sample sized analysis are warranted to reconfirm our findings.

Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER project

이영우,이수현,성재숙,정희준,임아름,김주원,최윤지,박경화,김열홍 대한암학회 2021 Cancer Research and Treatment Vol.53 No.1

Purpose Next-generation sequencing (NGS) can facilitate precision medicine approaches in metastatic colorectal cancer (mCRC) patients. We investigated the molecular profiling of Korean mCRC patients under the K-MASTER project which was initiated in June 2017 as a nationwide precision medicine oncology clinical trial platform which used NGS assay to screen actionable mutations. Materials and Methods As of 22 January 2020, total of 994 mCRC patients were registered in K-MASTER project. Targeted sequencing was performed using three platforms which were composed of the K-MASTER cancer panel v1.1 and the SNUH FIRST Cancer Panel v3.01. If tumor tissue was not available, cell-free DNA was extracted and the targeted sequencing was performed by Axen Cancer Panel as a liquid biopsy. Results In 994 mCRC patients, we found 1,564 clinically meaningful pathogenic variants which mutated in 71 genes. Anti-EGFR therapy candidates were 467 patients (47.0%) and BRAF V600E mutation (n=47, 4.7%), deficient mismatch repair/microsatellite instability–high (n=15, 1.5%), HER2 amplifications (n=10, 1.0%) could be incorporated with recently approved drugs. The patients with high tumor mutation burden (n=101, 12.7%) and DNA damaging response and repair defect pathway alteration (n=42, 4.2%) could be enrolled clinical trials with immune checkpoint inhibitors. There were more colorectal cancer molecular alterations such as PIK3CA, KRAS G12C, atypical BRAF, and HER2 mutations and even rarer but actionable genes that approved or ongoing clinical trials in other solid tumors. Conclusion K-MASTER project provides an intriguing background to investigate new clinical trials with biomarkers and give therapeutic opportunity for mCRC patients.