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Hum Genomics. 2018 Jul 27;12(1):37. doi: 10.1186/s40246-018-0169-z.

Associations of high-altitude polycythemia with polymorphisms in PIK3CD and COL4A3 in Tibetan populations.

Fan X1,2, Ma L1,2, Zhang Z1,2, Li Y3,4, Hao M3, Zhao Z1,2, Zhao Y1,2, Liu F1,2, Liu L1,2, Luo X5, Cai P1,2, Li Y1,2, Kang L6,7.

Author information

1
Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, 712082, Shaanxi, China.
2
Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, 712082, Shaanxi, China.
3
Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, 200433, China.
4
Six Industrial Research Institute, Fudan University, Shanghai, 200433, China.
5
Division of Human Genetics, Department of Psychiatry, Yale University School of Medicine, New Haven, CT, 06510, USA.
6
Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, 712082, Shaanxi, China. longli_kang@163.com.
7
Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, 712082, Shaanxi, China. longli_kang@163.com.

Abstract

BACKGROUND:

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.

AIM/METHODS:

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.

RESULTS/CONCLUSION:

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.

KEYWORDS:

COL4A3; High-altitude polycythemia; PIK3CD

PMID:
30053909
PMCID:
PMC6062892
DOI:
10.1186/s40246-018-0169-z
[Indexed for MEDLINE]
Free PMC Article

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