에너지 가격 변동에 따른 전기수요 영향

학위논문 (석사)-- 서울대학교 행정대학원 : 행정대학원 정책학과, 2016. 2. 김봉환.에너지원별 소비구조에 있어서 석유의 비중은 1992년도에 64%에서 2013년에 50%로 감소하는데 비해, 전기사용의 비중은 1992년도에는 11%에서 2001년은 15%, 2013년에는 20%로 크게 상승했다. 전기사용은 꾸준히 증가하고 석유 등의 에너지비중은 감소하고 있다. 이러한 현상의 원인은 유가가 상승하는 상황에서 물가안정을 위해 전기요금 인상을 억제하여 에너지원별간 가격체계를 왜곡하여 잘못된 가격 시그널을 시장에 보내고 있기 때문이다. 이러한 왜곡된 가격시그널에 의한 타에너지원에서 전기로의 대체현상은 산업체에서뿐만 아니라 전 영역에서 이루어지고 있다. 국가경제규모가 커져서 전기사용 규모가 자연적으로 증가하는게 아니고 정책적인 이유로 전기사용이 증가하는 것은 좋은 현상이 아니다. 1차에너지를 사용하여 만드는 2차에너지인 전기는 효율이 좋지 않은 에너지원이다. 사용편의성 및 기업의 수익성을 이유로 전기사용이 급증하는 것은 전기를 생산하기 위해서 더 많은 발전원료인 석유 및 석탄 등 1차에너지원을 외부에서 수입해야하므로 국가적 손실이 발생하게 된다. 또한 전력공급 수준을 초과한 전력수요는 전력 계통망의 부담을 가져와서 블랙아웃이라는 위기를 초래하게 된다. 전력수요에 대해 경제학적으로 분석해보면, 전력가격에 큰 영향을 받게 되며, 다른 에너지원과 상대가격에 따른 대체성에도 영향을 받게 된다. 예를 들면 가정에서 난방을 위하여 전기보일러와 석유보일러라는 두가지 형태의 난방이 있다고 할 때 석유가 상대적으로 비싸진다면, 전기보일러의 사용이 높아져서 결국 전기의 수요가 증가하게 될 것이다. 본 연구는 에너지원간 소비측면에서 대체관계가 있는 전기, 천연가스, 유류간의 상대가격, 소비량 등을 통계적으로 검증함으로서 대체관계 유무와 대체성의 영향 여부를 분석하였다. 분석결과 타에너지원간 상대가격의 변화는 전기소비량의 변화에 밀접한 관계가 있으며, 대체관계를 보이는 유의성을 보인다. 용도별로 보면, 상대가격에 가장 민감하게 반응하는 것은 일반용으로 나타나고 산업용의 경우에는 덜 민감하게 반응하는 것으로 보인다. 이는 산업용의 경우 대규모 설비이므로 에너지원간의 상대가격차이가 커진다고 하더라고 기존 설비를 전기설비로 대체하기 위해 막대한 추가투자비용이 들어가는 것이 원인인 것으로 보인다. 계절 수요변화로는 주택용, 일반용이 가장 계절에 민감하고 산업용 수요가 상대적으로 덜 민감한 형태를 보인다. 이처럼 타에너지간에는 대체적인 관계가 존재한다. 국가 에너지 소비의 효율성을 위해서는 에너지간 상대가격에 따른 에너지간 대체성의 고려는 반드시 필요하다. 끝으로 에너지 소비는 부존자원이 없는 우리나라에서는 국가전체적으로 에너지효율을 우선시할 필요가 있다. 이를 위해 에너지 소비에 있어서 정상적인 가격 시그널을 보내야 산업계 등 전 영역에서 에너지 효율을 높이려는 활동을 할 것이고, 그 결과 국가적인 에너지 소비도 효율적이 될 것이다. 이러한 에너지 요금에 대한 정상적인 가격 시그널은 지속가능한 성장을 만들어 낼 수 있는 나라의 동력이 될 수 있다. 원가 및 사회적 비용 반영, 에너지 효율 향상 등을 고려하여 전기요금 수준을 조정할 수 있겠지만, 시장경제에서는 가격을 시장에 맡기는 요금결정체계가 필요하다. 즉, 기획재정부(물가안정)와 산업통산자원부(산업경쟁력)로부터 독립적인 전기요금 결정체계가 필요하다. 에너지 소비는 환경적 요인, 법률적 규제요인, 과학의 발달 등 여러 가지 요인에 의하여 끊임없이 변화할 것이고 이러한 변화는 전기과 타 에너지원의 소비패턴을 변화시킬 것이다. 이를 위해 에너지원간 대체효과를 분석하는데 있어 중요한 영향을 미치는 변수를 계속해서 연구해야 할 것으로 보인다.제1장.서론 1 제1절.연구목적및필요성 1 제2절.연구대상과 범위 4 제2장.에너지산업에대한이론적검토 6 제1절.에너지산업의이해 6 제2절.에너지산업별수요추이및현황 16 제3장.이론적논의 25 제1절.수요의가격탄력성 25 제2절.수요예측모델 29 제4장.선행연구 34 제1절.관련선행연구검토 34 제2절.관련선행연구요약및차별화 39 제5장.연구설계 41 제1절.변수설명 41 제2절.연구가설과분석방법 47 제6장.실증분석 52 제1절.주택용에너지원간수요분석결과 52 제2절.산업용에너지원간수요분석결과 57 제3절.일반용에너지원간수요분석결과 60 제7장.결론 63 제1절.연구결과요약 63 제2절.정책적시사점및한계 66 참 고 문 헌 69 Abstract 72Maste

Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency

Background Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) has a wide phenotypic spectrum including Kallmann syndrome (KS) and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). FGFR1 mutations have been identified in 3-10% of patients with KS or nIHH. This study was performed to investigate clinical phenotypes and functional characteristics of FGFR1 mutations in patients with IGD. Methods This study included 8 patients (from 7 families) with FGFR1 mutations identified by targeted gene panel sequencing or whole exome sequencing (WES). The impact of the identified mutations on FGFR1 function was assessed using in vitro studies. Results Seven heterozygous mutations in FGFR1 were identified in 8 patients from 7 independent families. The patients exhibited a wide spectrum of pubertal development, including anosmia in a prepubertal boy (n=1), delayed puberty (n=2), nIHH (n=3), and KS (n=2). Four of the mutations were classified as likely pathogenic, and the other three were variants of uncertain significance. FGF8-FGFR1 signaling activities for the novel FGFR1 variants (p.Y339H, p.S681I, and p.N185Kfs*16) were reduced by in vitro functional assay, indicating loss-of-function mutations. Conclusions This study identified seven rare sequence variants in FGFR1 in patients with KS and nIHH. Probands with an FGFR1 mutations displayed a wide phenotypic spectrum ranging from KS to anosmia. A prepubertal male with anosmia should be followed up to assess pubertal development because they can manifest hypogonadotropic hypogonadism after puberty. These results expand the phenotypic spectrum of FGFR1 mutations and suggest a broader biologic role of FGFR1 in reproduction

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center

Background The prevalence of monogenic diabetes is estimated to be 1.1-6.3% of patients with diabetes mellitus (DM) in Europe. The overlapping clinical features of various forms of diabetes make differential diagnosis challenging. Therefore, this study investigated the etiologic distribution and clinical characteristics of pediatric diabetes, including monogenic diabetes, who presented at a single tertiary center over the last 20 years. Methods This study included 276 consecutive patients with DM diagnosed before 18 years of age from January 2000 to December 2019 in Korea. Clinical features, biochemical findings, beta-cell autoantibodies, and molecular characteristics were reviewed retrospectively. Results Of the 276 patients, 206 patients (74.6%), 49 patients (17.8%), and 21 patients (7.6%) were diagnosed with type 1 DM, type 2 DM, and clinically suspected monogenic diabetes, respectively. Among 21 patients suspected to have monogenic diabetes, 8 patients had clinical maturity-onset diabetes of the young (MODY), and the remaining 13 patients had other types of monogenic diabetes. Among them, genetic etiologies were identified in 14 patients (5.1%) from 13 families, which included MODY 5, transient neonatal DM, developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, Wolfram syndrome, Donohue syndrome, immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, Fanconi-Bickel syndrome, Wolcott-Rallison syndrome, cystic fibrosis-related diabetes, and maternally inherited diabetes and deafness. Conclusions Genetically confirmed monogenic diabetes accounted for 5.1% of patients evaluated at a single tertiary center over 20-year period. Based on the findings for our sample, the frequency of mutations in the major genes of MODY appears to be low among pediatric patients in Korea. It is critical to identify the genetic cause of DM to provide appropriate therapeutic options and genetic counseling

Aberrant expression of PAX6 gene associated with classical aniridia: identification and functional characterization of novel noncoding mutations

The PAX6 is essential for ocular morphogenesis and is known to be highly sensitive to changes in gene expression, where neither over- nor under-expression ensures normal ocular development. Two unrelated probands with classical aniridia who were previously considered “PAX6-negative”, were studied by whole-genome sequencing. Through the use of multiple in silico deep learning-based algorithms, we identified two novel putative causal mutations, c.-133_-132del in the 5′ untranslated region (5′-UTR) and c.-52 + 5G>A in an intron upstream of the PAX6 gene. The luciferase activity was significantly increased and VAX2 binding was disrupted with the former 5′-UTR variant compared with wild-type sequence, which resulted in a striking overexpression of PAX6. The minigene assay showed that the c.-52 + 5G>A mutation caused defective splicing, which resulted in the formation of truncated transcripts

Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea

Background The switch/sucrose nonfermenting (SWI/SNF) complex is an adenosine triphosphate-dependent chromatin-remodeling complex associated with the regulation of DNA accessibility. Germline mutations in the components of the SWI/SNF complex are related to human developmental disorders, including the Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and nonsyndromic intellectual disability. These disorders are collectively referred to as SWI/SNF complex-related intellectual disability disorders (SSRIDDs). Methods Whole-exome sequencing was performed in 564 Korean patients with neurodevelopmental disorders. Twelve patients with SSRIDDs (2.1%) were identified and their medical records were retrospectively analyzed. Results ARID1B, found in eight patients, was the most frequently altered gene. Four patients harbored pathogenic variants in SMARCA4, SMARCB1, ARID2, and SMARCA2. Ten patients were diagnosed with CSS, and one patient without a typical phenotype was diagnosed with ARID1B-related nonsyndromic intellectual disability. Another patient harboring the SMARCA2 pathogenic variant was diagnosed with NCBRS. All pathogenic variants in ARID1B were truncating, whereas variants in SMARCA2, SMARCB1, and SMARCA4 were nontruncating (missense). Frequently observed phenotypes were thick eyebrows (10/12), hypertrichosis (8/12), coarse face (8/12), thick lips (8/12), and long eyelashes (8/12). Developmental delay was observed in all patients, and profound speech delay was also characteristic. Agenesis or hypoplasia of the corpus callosum was observed in half of the patients (6/12). Conclusions SSRIDDs have a broad disease spectrum, including NCBRS, CSS, and ARID1B-related nonsyndromic intellectual disability. Thus, SSRIDDs should be considered as a small but important cause of human developmental disorders

Clinical and molecular spectra of BRAF-associated RASopathy

Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are the most common subtypes of RASopathy. As an effector of Ras, BRAF is one of the molecules responsible for RASopathy. We investigated the phenotypic and genotypic features of 26 patients with BRAF-associated RASopathy. The clinical diagnoses were CFC (n = 21, 80.8%), NS (n = 3, 11.5%), NS/CFC (n = 1, 3.8%), and undefined syndromic intellectual disability (ID) (n = 1, 3.8%). The mostly shared phenotypes were ID (90.5%), cutaneous manifestations (84.6%), congenital heart defects (76.9%), short stature (76.9%), and dysmorphic features such as short neck (65.4%) and low-set ears (65.4%). Importantly, moderate to severe ID (57.1%) and epilepsy (26.9%) were noted. Eighteen different missense mutations were found, including a novel mutation, p.Phe498Tyr. p.Gln257Arg (n = 9, 34.6%) was the most common mutation, and the mutations were clustered in the cysteine-rich domain or protein kinase domain. A review of previously reported cases along with our findings revealed the existence of multiple sub-phenotypes of RASopathy within a single genotype, indicating that BRAF-associated RASopathy is not variant-specific. Our study further delineated the diverse and expanded clinical phenotypes of BRAF-associated RASopathy with their molecular genetic characteristics