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Abstract:
PURPOSE:This study aimed to explore the association between low-frequency and rare variants of Wnt signaling genes and postmenopausal osteoporosis (OP) by the next generation sequencing (NGS) technology. METHODS:We performed targeted NGS of nine Wnt signaling genes in 400 Chinese postmenopausal women, including 226 cases with decreased bone mineral density (BMD) and 174 controls with normal values. Proxy External Controls Association Test (ProxECAT) and logistic regression analysis were performed by data from internal cases (n = 226) and Genome Aggregation Database (gnomAD) East Asian controls (n = 9435). RESULTS:The genomic region of interest (ROI) of 94 functional low-frequency and rare variants was associated with OP risk (P < 0.05). The LGR6 gene was associated significantly with OP risk and BMD measurements (BMD, T-score and Z-score) (adjusted-P < 0.05) after adjusting for confounders. The allele A of rs199693693 (K82N) in LRP6 and G of novel variant 1: 202287949 (R840G) in LGR6 were associated with higher BMD, T-score, and Z-score (all adjusted-P < 0.05). ProxECAT showed that LGR4 was significantly different between the internal cases and the external controls (all adjusted-P < 0.05). Logistic regression analysis revealed that the allele G of rs765778410 (T645A) (OR = 26.16, 95% CI: 4.36-156.95, adjusted-P value = 0.026) in LGR6 and A of rs61370283 (L987M) (OR = 15.39, 95% CI: 2.98-79.55, adjusted-P value = 0.037) in LRP5 were associated with increased risk of postmenopausal OP. CONCLUSION:The LGR4 and LGR6 genes and four potential functional rare variants associate with postmenopausal OP risk. These results highlight the significance of rare functional variants in postmenopausal OP genetics and provide new insights into the potential mutations in this field.
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最新影响因子:3.925 | 期刊ISSN:1355-008X | CiteScore:2.55 |
出版周期: | 是否OA:YES | 出版年份:1994 |
自引率:9.60% | 研究方向:ENDOCRINOLOGY & METABOLISM- |
出版地区:UNITED STATES |
SCI期刊coverage:Science Citation Index Expanded(科学引文索引扩展)
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Well-established as a major journal in today's rapidly advancing experimental and clinical research, Endocrine should be your first choice for the rapid publication of full length articles devoted to the molecular, cellular, biochemical, and physiological aspects of endocrinology, including both clinical papers relating to significant endocrine phenomena that are appropriately controlled and methodological papers of special interest to workers in this area.
完善作为主要在当今迅速发展的实验和临床研究杂志,内分泌的快速出版应该是你首选完整文章致力于分子,细胞,生化,内分泌学和生理方面的,包括临床论文重要内分泌相关现象,适当控制和方法论的论文工作者在这一领域的特殊利益。
大类(学科) | 小类(学科) | 学科排名 |
医学 |
ENDOCRINOLOGY & METABOLISM (内分泌学与代谢) 3区 |
62/142 |
年度总发文量 | 年度论文发表量 | 年度综述发表量 |
303 | 272 | 31 |
引文计数(2018)
文献(2015-2017)
2668次引用
1047篇文献
序号 | 类别 | 排名 | 百分位 |
1 |
大类(学科):Medicine
小类(学科):Endocrinology, Diabetes and Metabolism
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#77/209
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2 |
大类(学科):Biochemistry, Genetics and Molecular Biology
小类(学科):Endocrinology
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#54/119
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审稿时间: 2个月内 接受率: 中等(50%命中)
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接受率: 一般容易(75%命中)
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审稿时间: 2个月内 接受率: 中等(50%命中)
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研究方向:生物化学与分子生物学
接受率: 一般容易(75%命中)
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研究方向:垂体 甲状腺
审稿时间: 2个月内 接受率: 中等(50%命中)
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研究方向:医药科学 内分泌系统
审稿时间: 1个月内
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研究方向:甲状腺超声诊断 甲状腺消融 腹部、肝移植超声
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接受率: 一般容易(75%命中)
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研究方向:内分泌 代谢
审稿时间: 2个月内
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审稿时间: 2个月内 接受率: 一般容易(75%命中)
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研究方向:内分泌 糖尿病
审稿时间: 2个月内 接受率: 比较困难(25%命中)
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影响因子:2.67
ISSN:1054-6006
研究方向:农林科学-海洋学
影响因子:3.906
ISSN:1054-3139
研究方向:农林科学-海洋学
影响因子:3.994
ISSN:0304-4203
研究方向:化学-海洋学
影响因子:5.763
ISSN:0022-2828
研究方向:医学-细胞生物学
影响因子:3.128
ISSN:2228-5806
研究方向:CELL BIOLOGY-
影响因子:5.063
ISSN:2044-5040
研究方向:CELL BIOLOGY-
影响因子:0.308
ISSN:0884-6812
研究方向:CELL BIOLOGY-
影响因子:2.5
ISSN:0025-3235
研究方向:地学-地球化学与地球物理
影响因子:2.049
ISSN:0377-0265
研究方向:地学-地球化学与地球物理
发表一篇学和医学成像类SCI论文
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