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以統計學統合大腸癌之全基因組關聯分析(GWAS)

為了解決SNPS news的問題，作者李于嘉 這樣論述：

研究背景：近年臺灣推動精準醫療科技，並持續建立屬於亞洲人的，精準醫療於癌症之應用與過去糞便潛血檢查不同，是採創新的資訊科技建立智慧醫療環境及監測系統，以支持民眾個人化自主健康管理，過去較少有研究著墨於不同血統間各基因變異單核苷酸多態性(single nucleotide polymorphism, SNP)與大腸癌發生之關聯程度。所以本研究進行探討大腸癌全基因組關聯分析(genome-wide association study, GWAS)，期能找出不同血統之重要基因變異位點與大腸癌發生之關聯程度，以提供不同異質性血統間重點查看或檢測哪些基因變異位點的參考。研究目的：本研究利用統計學方法整

體統合分析個體層次全基因組關聯分析文獻中，已知各基因變異SNP與大腸癌發生的關聯摘要的再摘要；並統合分析已知各基因變異SNP與大腸癌發生的關聯摘要的血統次群組再摘要。研究方法：我們檢索GWAS Catalog找出大腸癌疾病關聯性基因變異SNPs位點，並連結至PubMed資料庫下載閱讀英文文獻全文，進行GWAS與大腸癌之相關文獻彙整，檢索時間截止至2021年5月18日， MetaXL軟體是被採用來進行隨機效應模型的統合分析以推導出各基因變異SNP整體和血統次群組統合之勝算比(odds ratio, OR)和95%信賴區間(confidence interval, CI)及p值。研究結果：本研究包

含十三篇文獻共有基因變異34筆SNPs與大腸癌發生之個體層次關聯性研究，透過血統次群組統合分析森林圖十一個次群組subtotal OR結果中，共有七個次群組subtotal OR的 p值

Precision nutrition for children with early puberty: leveraging nutrigenomics and lipidomics analysis

為了解決SNPS news的問題，作者NGAN THI KIM NGUYEN 這樣論述：

Background: Precocious puberty (PP) is puberty occurring at an unusually early age that brings in adverse health outcomes during adolescence and adulthood. Pubertal development is a complex biological process of sexual development and is affected by genetic, nutritional, environmental, and socio-ec

onomic factors. However, the relationship between pre-pubertal intakes of energy, fat, fiber, protein levels and pubertal timing has been debated. In the genomic era, it is necessary to examine the individual response to a specific diet and how diet influences metabolic regulation in children with P

P personally. Limited evidence investigated the timing of pubertal onset by examining the interaction of nutrient intake and PP-related genetic loci. Importantly, endocrine disorders can alter lipid metabolism. The fact that puberty onset requires critical weight and body fat based on the “critical

weight hypothesis” and many lipid species have been noticed in many human obesity and metabolic syndrome studies. However, a lack of evidence works on lipidomes to propose the based-lipid biomarker and lipid metabolism in predicting PP in children.Methods: By performing a systematic review and meta-

analysis of prospective studies, we aimed to disclose the role of pre-pubertal and pubertal nutrient intake in PP development. Thereafter, we conducted a Taiwan Puberty Longitudinal Study (TPLS) in recruiting adolescents from pubertal and pediatric endocrine clinics in the Northern/Southern part of

Taiwan. The buccal samples for deoxyribonucleic acid (DNA) extraction and genotyping were collected from a total of 1404 children. We will examine the nutrient intake on the interaction with PP-related SNPs on pubertal timing using the “interaction term” of logistic regression. Also, lipidomic analy

sis deriving from 178 subjects’ plasma samples was used to identify the critical lipid biomarkers in diagnosing PP and central precocious puberty (CPP).Results: A high intake of protein, particularly animal protein, monounsaturated fatty acids (MUFAs), polyunsaturated fatty acids (PUFAs) among prepu

bertal girls were significantly associated with PP risk. We also found that SNP rs12617311, rs2090409, and rs12148769 were significantly associated with PP in children. Specifically, different genotypes interacted with such food groups and micronutrient intake. A significant interaction was observed

between intake of vegetables, fruits, fructose and menarcheal loci rs12617311 (PCL1). The rs2090409 (TMEM38B) was more likely to interact with vitamin intake. Importantly, rs12148769 (MKRN3) appeared a significant interaction with saturated FA and MUFA intake. Whist, SNP rs10980921 (ZNF483) showed

a significant interaction with total PUFAs intake. The intake of sucrose, MUFAs, and PUFAs was associated with the potential lipid-based biomarkers, such as Cer(d16:1/22:0), PI(18:2/22:1), and PI(18:2/22:2) of girls and Cer(t20:0/18:0), Cer(d18:1/16:0) and Cer(d18:1/18:1) of boys that could predict

PP and CPP onset. In addition, the lipidomic analysis proposed several candidate lipids metabolism pathways, such as sphingolipid metabolism, steroid biosynthesis, and bile acid biosynthesis for an in-depth lipid mechanism that can be linked to PP and CPP pathophysiology.Conclusion: There was an int

eraction between genetic variant, lipid metabolism, and nutrient intake that was convinced to be associated with PP and CPP development in girls and boys. Nutrient intake may be an important factor in modulating early puberty, especially the consumption of sugar, fructose, and specific saturated fat

ty acids, monounsaturated fatty acids, polyunsaturated fatty acids. Additional research is needed to determine the biological causes of individual variability in response to dietary intake. Likewise, understanding the influence of nutrigenetic interactions on dyslipidemia can aid in the development

and implementation of personalized dietary strategies to improve the PP and CPP treatment.