Analysis of genetic polymorphisms for age-related macular degeneration (AMD) in Chinese Tujia ethnic minority group

Liu, Shengchun; Wu, Mingxing; Zhang, Bianwen; Xiong, Xiaojing; Wang, Hao; Zhou, Xiyuan

doi:10.1186/s12881-019-0756-4

Cited by 8 publications

(4 citation statements)

References 36 publications

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“…Our results did not support the single locus of VEGFA rs3025039 could increase the risk of AMD. It was consistent with the other report from the Chinese Tujia ethnic minority group (16). However, the interaction between LOXL1 rs1048661 and VEGFA rs3025039 needs to be investigated.…”

Section: Discussionsupporting

confidence: 91%

Interaction of two functional genetic variants LOXL1 rs1048661 and VEGFA rs3025039 on the risk of age-related macular degeneration in Chinese women

Chen

Liu

et al. 2020

Ann Transl Med

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Background: Cumulative evidence indicates that LOXL1 and VEGF-a play important roles in extracellular matrix formation and angiogenesis, respectively. The disorder of extracellular matrix and angiogenesis are the key factors of pathogenesis of age-related macular degeneration (AMD). We hypothesized that rs1048661 (T>G) in the LOXL1 gene and rs3025039 (C>T) in the VEGFA gene might be associated with risk of AMD.Methods: A total of 533 unrelated Chinese subjects, 286 cases (247 with early AMD and 39 with late neovascular AMD) and 247 controls, were included in the study. The gene sequences of LOXL1 rs1048661 and VEGFA rs3025039 were amplified by polymerase chain reaction and genotyped. Interaction between rs1048661 and rs3025039 on AMD risk was also assessed.Results: LOXL1 rs1048661 but not VEGFA rs3025039 was associated with a significantly increased risk of AMD. The adjusted odds ratio was 1.6 (95% CI, 1.1-2.5) for rs1048661 TT + GT genotype compared with GG homozygotes in the dominant model analysis. Moreover, there was a significant gene-gene interaction between these two polymorphic loci. In VEGFA rs3025039 CC + CT genotype which indicated sufficient expression of VEGF-a, LOXL1 rs1048661 had odds ratios of 1.7 (95% CI, 1.1-2.7) for early AMD and 3.6 (95% CI, 1.1-12.3) for late neovascular AMD in the dominant model analysis. However, LOXL1 rs1048661 did not confer the risk of AMD in subjects harboring VEGFA rs3025039 TT genotype which indicated decreased expression of VEGF-a.Conclusions: Our findings suggest that LOXL1 rs1048661 (T>G) may be involved in the risk of AMD.In addition, LOXL1 rs1048661 and VEGFA rs3025039 interacted to confer the development of AMD, especially for late-stage neovascular AMD. Our data need to be further validated.

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Section: Discussionsupporting

confidence: 91%

Interaction of two functional genetic variants LOXL1 rs1048661 and VEGFA rs3025039 on the risk of age-related macular degeneration in Chinese women

Chen

Liu

et al. 2020

Ann Transl Med

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“…All of them belong to eight language families: Sino‐Tibetan distributed across China; Austronesian, Austroasiatic, Tai‐Kadai, and Hmong‐Mien distributed in South China; and Indo‐European, Korean, Altaic languages including Tungusic, Mongolic, and Turkic mainly distributed in North China. Here, we turn our attention to two of the important Sino‐Tibetan‐speaking populations – Tibeto‐Burman‐speaking Tujia and central Sinitic Han Chinese, due to that the current knowledge of the origin, diversification, expansion, and admixture history of them remain inconclusive and fragmentary (Shen et al, 2016; Liu et al, 2018, 2019; Feng et al, 2020). Recent linguistic pieces of evidence (Zhang et al, 2019) have supported the northern‐origin hypothesis of the Sino‐Tibetan language family, suggesting that the expansion was associated with the development of the Yangshao and/or Majiayao Neolithic cultures.…”

Section: Introductionmentioning

confidence: 99%

Fine‐scale genetic structure of Tujia and central Han Chinese revealing massive genetic admixture under language borrowing

Wang

et al. 2020

J of Sytematics Evolution

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Archaeological, genetic, and linguistic evidence has supported the idea that northern China is the original center of modern Sino‐Tibetan‐speaking populations. However, the demographic history of subsequent southward migration and genetic admixture of Han Chinese with surrounding indigenous populations remain uncharacterized, and the language shifts and assimilations accompanied by movement of people, or just an adaptation of cultural ideas among populations in central China is still unclear, especially for Tibeto‐Burman‐speaking Tujia and central Han Chinese populations. To resolve this, we genotyped over 60K genome‐wide markers in 505 unrelated individuals from 63 indigenous populations. Our results showed both studied Han and Tujia were at the intermediate position in the modern East Asian North–South genetic cline and there was a correlation between the genetic composition and the latitude. We observed the strong genetic assimilation between Tujia people and central Han Chinese, which suggested massive population movements and genetic admixture under language borrowing. Tujia and central Han Chinese could be modeled as a two‐way admixture deriving primary ancestry from a northern ancestral population closely related to the ancient DevilsCave and present‐day Tibetans and a southern ancestral population closely related to the present‐day Tai‐Kadai and Austronesian‐speaking groups. The ancestral northern population we suspect to be related to the Neolithic millet farming groups in the Yellow River Basin or central China. We showed that the newly genotyped populations in Hubei Province had a higher proportion of DevilsCave or modern Tungusic/Mongolic‐related northern ancestries, while the Hunan populations harbored a higher proportion of Austronesian/Tai‐Kadai‐related southern ancestries.

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“…The mRNA expression of the KDR gene also differs among different study cohorts. 13 At present, there are few studies investigating the polymorphism of this gene in the Chinese population. The −906T>C polymorphism is located in the coding region of the KDR gene.…”

Section: Introductionmentioning

confidence: 99%

<p>Clinical Outcomes and Safety of Apatinib Mesylate in the Treatment of Advanced Non-Squamous Non-Small Cell Lung Cancer in Patients Who Progressed After Standard Therapy and Analysis of the <em>KDR</em> Gene Polymorphism</p>

Song

Zhao

Zuo

et al. 2020

OTT

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Purpose: This study investigated the clinical outcomes and safety of apatinib mesylate in the treatment of advanced non-squamous non-small cell lung cancer (NSCLC) in patients who progressed after standard therapy, and analyzed the kinase insert domain receptor (KDR) gene polymorphism. Methods: A total of 135 patients with advanced non-squamous NSCLC who received apatinib mesylate were included. Objective response rates were evaluated. Subsequently, progression-free survival (PFS) and overall survival (OS) were assessed and safety data were recorded. Additionally, peripheral blood and biopsy cancer tissue specimens were collected from the patients with NSCLC for the genotyping of the genetic polymorphism and mRNA expression of the KDR gene, respectively. Analysis on the association between genotypes and prognosis was conducted. Results: The objective response rate of the 135 patients with NSCLC was 18.52%, disease control rate was 65.19%, median PFS was 3.95 months, and median OS was 10.05 months. Regarding the KDR gene polymorphism analysis, the distribution of the 4397T>C polymorphism genotypes was in accordance with the Hardy-Weinberg Equilibrium (P=0.868). Moreover, the prognosis analysis indicated that the median PFS of patients with the CC/TC and TT genotypes was 2.80 and 4.80 months, respectively (P=0.002). Furthermore, the median OS of patients with the two genotypes was 9.10 and 10.56 months, respectively (P=0.041). The multivariate Cox regression analysis showed that the TC/CC genotypes were an independent factor for PFS (odds ratio: 1.72, P=0.009). There was no correlation between the polymorphism and adverse reactions. Additionally, the mRNA expression analysis suggested that the mRNA levels of KDR in cancer tissues were significantly different between the TT and TC/CC genotypes (P<0.001). Conclusion: The clinical outcomes of treatment with apatinib mesylate for advanced nonsquamous NSCLC in patients who progressed after standard therapy may be influenced by the KDR 4397T>C polymorphism through mediation of the mRNA expression of KDR.

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Analysis of genetic polymorphisms for age-related macular degeneration (AMD) in Chinese Tujia ethnic minority group

Cited by 8 publications

References 36 publications

Interaction of two functional genetic variants LOXL1 rs1048661 and VEGFA rs3025039 on the risk of age-related macular degeneration in Chinese women

Interaction of two functional genetic variants LOXL1 rs1048661 and VEGFA rs3025039 on the risk of age-related macular degeneration in Chinese women

Fine‐scale genetic structure of Tujia and central Han Chinese revealing massive genetic admixture under language borrowing

<p>Clinical Outcomes and Safety of Apatinib Mesylate in the Treatment of Advanced Non-Squamous Non-Small Cell Lung Cancer in Patients Who Progressed After Standard Therapy and Analysis of the <em>KDR</em> Gene Polymorphism</p>

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