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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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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
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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:2.395
ISSN:0899-8493
研究方向:医学-生理学
影响因子:11.067
ISSN:1077-5552
研究方向:医学-免疫学
影响因子:1.479
ISSN:1080-6032
研究方向:医学-公共卫生、环境卫生与职业卫生
影响因子:0.722
ISSN:0025-7826
研究方向:医学-医学:内科
影响因子:2.896
ISSN:1476-3141
研究方向:医学-工程:生物医学
影响因子:2.034
ISSN:0268-0033
研究方向:医学-工程:生物医学
影响因子:1.606
ISSN:1065-8483
研究方向:医学-工程:生物医学
影响因子:0.729
ISSN:0959-3020
研究方向:医学-工程:生物医学
影响因子:2.218
ISSN:1934-1482
研究方向:REHABILITATION-SPORT SCIENCES
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