Associations of high-altitude polycythemia with polymorphisms in PIK3CD and COL4A3 in Tibetan populations.
Associations of high-altitude polycythemia with polymorphisms in PIK3CD and COL4A3 in Tibetan populations.
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藏族高原红细胞增多症与PIK3CD、COL4A3多态性的关系
DOI：
10.1186/s40246-018-0169-z
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发表时间：
2018-07-27
期刊：
影响因子：
4.5
通讯作者：
Kang L
中科院分区：
文献类型：
--
作者：
Fan X;Ma L;Zhang Z;Li Y;Hao M;Zhao Z;Zhao Y;Liu F;Liu L;Luo X;Cai P;Li Y;Kang L
高原红细胞增多症(HAPC)是一种慢性高原疾病，可导致长期生活在高原低氧环境中的人红细胞生成量增加。HAPC最常见的症状包括头痛、头晕、呼吸困难、睡眠障碍和静脉扩张。虽然慢性低氧是HAPC的主要原因，但其发生的基本病理生理过程和相关的分子机制仍不清楚。本研究旨在探讨中国汉族和藏族人群HAPC的相关遗传因素。对140例HAPC患者(汉族70例，藏族70例)和60例健康对照组(汉族30例，藏族30例)进行病例对照研究。为了探讨HAPC的遗传学基础，我们在中国汉族和藏族人群中研究了HAPC与磷脂酰肌醇-4，5-双磷酸盐3-激酶、催化亚基三角洲基因(PIK3CD)和IV型胶原α3链基因(COL4A3)的相关性。通过非条件Logistic回归分析和假发现率(FDR)计算，发现在藏族人群中，PIK3CD的8个SNP和Col4A3的1个SNP与HAPC相关。然而，在汉族人群中，我们没有发现任何显著的关联。本研究提示PIK3CD和COL4A3基因多态性与藏族人群HAPC易感性有关。
High-altitude polycythemia (HAPC) is a chronic high-altitude disease that can lead to an increase in the production of red blood cells in the people who live in the plateau, a hypoxia environment, for a long time. The most frequent symptoms of HAPC include headache, dizziness, breathlessness, sleep disorders, and dilation of veins. Although chronic hypoxia is the main cause of HAPC, the fundamental pathophysiologic process and related molecular mechanisms responsible for its development remain largely unclear yet. This study aimed to explore the related hereditary factors of HAPC in the Chinese Han and Tibetan populations. A total of 140 patients (70 Han and 70 Tibetan) with HAPC and 60 healthy control subjects (30 Han and 30 Tibetan) were recruited for a case-control association study. To explore the genetic basis of HAPC, we investigated the association between HAPC and both phosphatidylinositol-4,5-bisphosphonate 3-kinase, catalytic subunit delta gene (PIK3CD) and collagen type IV α3 chain gene (COL4A3) in Chinese Han and Tibetan populations. Using the unconditional logistic regression analysis and the false discovery rate (FDR) calculation, we found that eight SNPs in PIK3CD and one SNP in COL4A3 were associated with HAPC in the Tibetan population. However, in the Han population, we did not find any significant association. Our study suggested that polymorphisms in the PIK3CD and COL4A3 were correlated with susceptibility to HAPC in the Tibetan population.
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中国汉族和藏族人群高原红细胞增多症与EPHA2和AGT多态性的关系
影响因子：
--
作者：
Liu L;Zhang Y;Zhang Z;Zhao Y;Fan X;Ma L;Zhang Y;He H;Kang L
通讯作者：
Kang L
影响因子：
2.1
作者：
Reeves, JT;Leon-Velarde, F
通讯作者：
Leon-Velarde, F
影响因子：
2.1
作者：
León-Velarde, F;Maggiorini, M;Zubieta-Calleja, G
通讯作者：
Zubieta-Calleja, G
影响因子：
8
作者：
Billottet, C.;Grandage, V. L.;Khwaja, A.
通讯作者：
Khwaja, A.
影响因子：
20.3
作者：
Sujobert, P;Bardet, V;Bouscary, D
通讯作者：
Bouscary, D