Skip to main content
Erschienen in: Neurological Sciences 4/2022

10.08.2021 | Original Paper

Effect of L3MBTL3/PTPN9 polymorphisms on risk to alcohol-induced ONFH in Chinese Han population

verfasst von: Jun Xiong, Yi Niu, Wei Liu, Fan Zeng, Jian-Fei Cheng, Shi-Qiang Chen, Xiang-Zhou Zeng

Erschienen in: Neurological Sciences | Ausgabe 4/2022

Einloggen, um Zugang zu erhalten

Abstract

Purpose

Alcohol-induced osteonecrosis femoral head necrosis (ONFH) is a disease that seriously affects human health. Abnormal expression of L3MBTL3/PTPN9 gene can cause a variety of human diseases. The purpose of this study is to investigate the effect of L3MBTL3/PTPN9 gene polymorphism on the susceptibility of alcohol-induced ONFH in Chinese Han population.

Methods

A total of 308 alcohol‐induced ONFH patients and 425 healthy controls were enrolled in this case–control study. Alleles, genotypes, genetic models, haplotypes, and multifactor dimensionality reduction analyses (MDR) based on age-corrected by using odds ratio (OR) and 95% confidence interval (CI) were performed.

Results

Our result revealed rs2068957 in the L3MBTL3 gene increased the risk of alcohol ONFH under the recessive model after correction. Besides, we also found that rs75393192 in the PTPN9 gene was a protective site in stratification over 40 years of age and stage. In stratified analysis of necrotic sites, we only found that rs2068957 was associated with increased susceptibility of alcohol-induced ONFH under the co-dominant model and recessive model. Haplotype “GC” in the block (rs76107647|rs10851882 in PTPN9 gene) significantly decreased the susceptibility of alcoholic ONFH.

Conclusions

Our results provide evidence that L3MBTL3/PTPN9 polymorphisms are associated with alcohol-induced ONFH risk in Chinese Han population.
Anhänge
Nur mit Berechtigung zugänglich
Literatur
1.
Zurück zum Zitat Castro FP Jr, Harris MB (1999) Differences in age, laterality, and Steinberg stage at initial presentation in patients with steroid-induced, alcohol-induced, and idiopathic femoral head osteonecrosis. J Arthroplasty. 14(6):672–6CrossRef Castro FP Jr, Harris MB (1999) Differences in age, laterality, and Steinberg stage at initial presentation in patients with steroid-induced, alcohol-induced, and idiopathic femoral head osteonecrosis. J Arthroplasty. 14(6):672–6CrossRef
2.
Zurück zum Zitat Cui L et al (2016) Multicentric epidemiologic study on six thousand three hundred and ninety five cases of femoral head osteonecrosis in China. Int Orthop 40(2):267–276CrossRef Cui L et al (2016) Multicentric epidemiologic study on six thousand three hundred and ninety five cases of femoral head osteonecrosis in China. Int Orthop 40(2):267–276CrossRef
3.
Zurück zum Zitat Lieberman JR et al (2012) Which factors influence preservation of the osteonecrotic femoral head? Clin Orthop Relat Res 470(2):525–534CrossRef Lieberman JR et al (2012) Which factors influence preservation of the osteonecrotic femoral head? Clin Orthop Relat Res 470(2):525–534CrossRef
4.
Zurück zum Zitat Hirota Y et al (1993) Association of alcohol intake, cigarette smoking, and occupational status with the risk of idiopathic osteonecrosis of the femoral head. Am J Epidemiol 137(5):530–538CrossRef Hirota Y et al (1993) Association of alcohol intake, cigarette smoking, and occupational status with the risk of idiopathic osteonecrosis of the femoral head. Am J Epidemiol 137(5):530–538CrossRef
5.
Zurück zum Zitat Okazaki S et al (2013) Experimental rat model for alcohol-induced osteonecrosis of the femoral head. Int J Exp Pathol 94(5):312–319CrossRef Okazaki S et al (2013) Experimental rat model for alcohol-induced osteonecrosis of the femoral head. Int J Exp Pathol 94(5):312–319CrossRef
6.
Zurück zum Zitat Yoon BH et al (2017) Alcohol intake and the risk of osteonecrosis of the femoral head in Japanese populations: a dose-response meta-analysis of case-control studies. Clin Rheumatol 36(11):2517–2524CrossRef Yoon BH et al (2017) Alcohol intake and the risk of osteonecrosis of the femoral head in Japanese populations: a dose-response meta-analysis of case-control studies. Clin Rheumatol 36(11):2517–2524CrossRef
7.
Zurück zum Zitat Gurvich N et al (2010) L3MBTL1 polycomb protein, a candidate tumor suppressor in del(20q12) myeloid disorders, is essential for genome stability. Proc Natl Acad Sci U S A 107(52):22552–22557CrossRef Gurvich N et al (2010) L3MBTL1 polycomb protein, a candidate tumor suppressor in del(20q12) myeloid disorders, is essential for genome stability. Proc Natl Acad Sci U S A 107(52):22552–22557CrossRef
8.
Zurück zum Zitat Li J et al (2004) Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid malignancies. Proc Natl Acad Sci U S A 101(19):7341–7346CrossRef Li J et al (2004) Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid malignancies. Proc Natl Acad Sci U S A 101(19):7341–7346CrossRef
9.
Zurück zum Zitat Bonasio R, Lecona E, Reinberg D (2010) MBT domain proteins in development and disease. Semin Cell Dev Biol 21(2):221–230CrossRef Bonasio R, Lecona E, Reinberg D (2010) MBT domain proteins in development and disease. Semin Cell Dev Biol 21(2):221–230CrossRef
10.
Zurück zum Zitat Nazari Mehrabani SZ et al (2019) Association of SHMT1, MAZ, ERG, and L3MBTL3 gene polymorphisms with susceptibility to multiple sclerosis. Biochem Genet 57(3):355–370CrossRef Nazari Mehrabani SZ et al (2019) Association of SHMT1, MAZ, ERG, and L3MBTL3 gene polymorphisms with susceptibility to multiple sclerosis. Biochem Genet 57(3):355–370CrossRef
11.
Zurück zum Zitat Arai S, Miyazaki T (2005) Impaired maturation of myeloid progenitors in mice lacking novel polycomb group protein MBT-1. Embo j 24(10):1863–1873CrossRef Arai S, Miyazaki T (2005) Impaired maturation of myeloid progenitors in mice lacking novel polycomb group protein MBT-1. Embo j 24(10):1863–1873CrossRef
12.
Zurück zum Zitat Zhang D et al (2016) The protein tyrosine phosphatase MEG2 regulates the transport and signal transduction of tropomyosin receptor kinase A. J Biol Chem 291(46):23895–23905CrossRef Zhang D et al (2016) The protein tyrosine phosphatase MEG2 regulates the transport and signal transduction of tropomyosin receptor kinase A. J Biol Chem 291(46):23895–23905CrossRef
13.
Zurück zum Zitat Hu B et al (2016) Downregulated expression of PTPN9 contributes to human hepatocellular carcinoma growth and progression. Pathol Oncol Res 22(3):555–565CrossRef Hu B et al (2016) Downregulated expression of PTPN9 contributes to human hepatocellular carcinoma growth and progression. Pathol Oncol Res 22(3):555–565CrossRef
14.
Zurück zum Zitat Wang D et al (2019) PTPN9 induces cell apoptosis by mitigating the activation of Stat3 and acts as a tumor suppressor in colorectal cancer. Cancer Manag Res 11:1309–1319CrossRef Wang D et al (2019) PTPN9 induces cell apoptosis by mitigating the activation of Stat3 and acts as a tumor suppressor in colorectal cancer. Cancer Manag Res 11:1309–1319CrossRef
15.
Zurück zum Zitat Li WT et al (2018) MiR-613 promotes cell proliferation and invasion in cervical cancer via targeting PTPN9. Eur Rev Med Pharmacol Sci 22(13):4107–4114PubMed Li WT et al (2018) MiR-613 promotes cell proliferation and invasion in cervical cancer via targeting PTPN9. Eur Rev Med Pharmacol Sci 22(13):4107–4114PubMed
16.
Zurück zum Zitat Hong Y et al (2016) miR-96 promotes cell proliferation, migration and invasion by targeting PTPN9 in breast cancer. Sci Rep 6:37421CrossRef Hong Y et al (2016) miR-96 promotes cell proliferation, migration and invasion by targeting PTPN9 in breast cancer. Sci Rep 6:37421CrossRef
17.
Zurück zum Zitat Xu MJ et al (2003) PTP-MEG2 is activated in polycythemia vera erythroid progenitor cells and is required for growth and expansion of erythroid cells. Blood 102(13):4354–4360CrossRef Xu MJ et al (2003) PTP-MEG2 is activated in polycythemia vera erythroid progenitor cells and is required for growth and expansion of erythroid cells. Blood 102(13):4354–4360CrossRef
18.
Zurück zum Zitat Wang Y et al (2005) Tyrosine phosphatase MEG2 modulates murine development and platelet and lymphocyte activation through secretory vesicle function. J Exp Med 202(11):1587–1597CrossRef Wang Y et al (2005) Tyrosine phosphatase MEG2 modulates murine development and platelet and lymphocyte activation through secretory vesicle function. J Exp Med 202(11):1587–1597CrossRef
19.
Zurück zum Zitat Yoon BH et al (2019) Etiologic classification criteria of ARCO on femoral head osteonecrosis part 2: alcohol-associated osteonecrosis. J Arthroplasty 34(1):169-174.e1CrossRef Yoon BH et al (2019) Etiologic classification criteria of ARCO on femoral head osteonecrosis part 2: alcohol-associated osteonecrosis. J Arthroplasty 34(1):169-174.e1CrossRef
20.
Zurück zum Zitat Wang Y et al (2015) Genetic association of the ApoB and ApoA1 gene polymorphisms with the risk for alcohol-induced osteonecrosis of femoral head. Int J Clin Exp Pathol 8(9):11332–11339PubMedPubMedCentral Wang Y et al (2015) Genetic association of the ApoB and ApoA1 gene polymorphisms with the risk for alcohol-induced osteonecrosis of femoral head. Int J Clin Exp Pathol 8(9):11332–11339PubMedPubMedCentral
21.
Zurück zum Zitat Patil N et al (2001) Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 294(5547):1719–1723CrossRef Patil N et al (2001) Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 294(5547):1719–1723CrossRef
22.
Zurück zum Zitat Villa-Angulo R et al (2009) High-resolution haplotype block structure in the cattle genome. BMC Genet 10:19CrossRef Villa-Angulo R et al (2009) High-resolution haplotype block structure in the cattle genome. BMC Genet 10:19CrossRef
23.
Zurück zum Zitat Zhou L et al (2019) GOLGA7 rs11337, a polymorphism at the microRNA binding site, is associated with glioma prognosis. Mol Ther Nucleic Acids 18:56–65CrossRef Zhou L et al (2019) GOLGA7 rs11337, a polymorphism at the microRNA binding site, is associated with glioma prognosis. Mol Ther Nucleic Acids 18:56–65CrossRef
24.
Zurück zum Zitat Deng Y et al (2019) Impact of four lncRNA polymorphisms (rs2151280, rs7763881, rs1136410, and rs3787016) on glioma risk and prognosis: a case-control study. Mol Carcinog 58(12):2218–2229CrossRef Deng Y et al (2019) Impact of four lncRNA polymorphisms (rs2151280, rs7763881, rs1136410, and rs3787016) on glioma risk and prognosis: a case-control study. Mol Carcinog 58(12):2218–2229CrossRef
25.
Zurück zum Zitat Adamec C (1964) Example of the use of the nonparametric test. Test X2 for comparison of 2 independent examples. Cesk Zdrav 12:613–9PubMed Adamec C (1964) Example of the use of the nonparametric test. Test X2 for comparison of 2 independent examples. Cesk Zdrav 12:613–9PubMed
26.
Zurück zum Zitat Clarke GM et al (2011) Basic statistical analysis in genetic case-control studies. Nat Protoc 6(2):121–133CrossRef Clarke GM et al (2011) Basic statistical analysis in genetic case-control studies. Nat Protoc 6(2):121–133CrossRef
27.
Zurück zum Zitat Gola D et al (2016) A roadmap to multifactor dimensionality reduction methods. Brief Bioinform 17(2):293–308CrossRef Gola D et al (2016) A roadmap to multifactor dimensionality reduction methods. Brief Bioinform 17(2):293–308CrossRef
28.
Zurück zum Zitat Faul F et al (2007) G*Power 3: a flexible statistical power analysis program for the social, behavioral, and biomedical sciences. Behav Res Methods 39(2):175–191CrossRef Faul F et al (2007) G*Power 3: a flexible statistical power analysis program for the social, behavioral, and biomedical sciences. Behav Res Methods 39(2):175–191CrossRef
29.
Zurück zum Zitat Lee YJ et al (2012) Vascular endothelial growth factor polymorphisms in patients with steroid-induced femoral head osteonecrosis. J Orthop Res 30(1):21–27CrossRef Lee YJ et al (2012) Vascular endothelial growth factor polymorphisms in patients with steroid-induced femoral head osteonecrosis. J Orthop Res 30(1):21–27CrossRef
30.
Zurück zum Zitat Addou-Klouche L et al (2010) Loss, mutation and deregulation of L3MBTL4 in breast cancers. Mol Cancer 9:213CrossRef Addou-Klouche L et al (2010) Loss, mutation and deregulation of L3MBTL4 in breast cancers. Mol Cancer 9:213CrossRef
31.
Zurück zum Zitat Zanotti S, Canalis E (2016) Notch signaling and the skeleton. Endocr Rev 37(3):223–253CrossRef Zanotti S, Canalis E (2016) Notch signaling and the skeleton. Endocr Rev 37(3):223–253CrossRef
32.
Zurück zum Zitat Xu T et al (2017) RBPJ/CBF1 interacts with L3MBTL3/MBT1 to promote repression of Notch signaling via histone demethylase KDM1A/LSD1. Embo j 36(21):3232–3249CrossRef Xu T et al (2017) RBPJ/CBF1 interacts with L3MBTL3/MBT1 to promote repression of Notch signaling via histone demethylase KDM1A/LSD1. Embo j 36(21):3232–3249CrossRef
33.
Zurück zum Zitat Kar SP et al (2016) Genome-wide meta-analyses of breast, ovarian, and prostate cancer association studies identify multiple new susceptibility loci shared by at least two cancer types. Cancer Discov 6(9):1052–1067CrossRef Kar SP et al (2016) Genome-wide meta-analyses of breast, ovarian, and prostate cancer association studies identify multiple new susceptibility loci shared by at least two cancer types. Cancer Discov 6(9):1052–1067CrossRef
34.
Zurück zum Zitat Paternoster L et al (2011) Adult height variants affect birth length and growth rate in children. Hum Mol Genet 20(20):4069–4075CrossRef Paternoster L et al (2011) Adult height variants affect birth length and growth rate in children. Hum Mol Genet 20(20):4069–4075CrossRef
35.
Zurück zum Zitat Huynh H et al (2004) Control of vesicle fusion by a tyrosine phosphatase. Nat Cell Biol 6(9):831–839CrossRef Huynh H et al (2004) Control of vesicle fusion by a tyrosine phosphatase. Nat Cell Biol 6(9):831–839CrossRef
36.
Zurück zum Zitat den Hertog J, Ostman A, Böhmer FD (2008) Protein tyrosine phosphatases: regulatory mechanisms. Febs j 275(5):831–847CrossRef den Hertog J, Ostman A, Böhmer FD (2008) Protein tyrosine phosphatases: regulatory mechanisms. Febs j 275(5):831–847CrossRef
37.
Zurück zum Zitat Hao Q et al (2012) Tyrosine phosphatase PTP-MEG2 negatively regulates vascular endothelial growth factor receptor signaling and function in endothelial cells. Am J Physiol Cell Physiol 303(5):C548–C553CrossRef Hao Q et al (2012) Tyrosine phosphatase PTP-MEG2 negatively regulates vascular endothelial growth factor receptor signaling and function in endothelial cells. Am J Physiol Cell Physiol 303(5):C548–C553CrossRef
38.
Zurück zum Zitat Dong C et al (2012) Follow-up association study of linkage regions reveals multiple candidate genes for carotid plaque in Dominicans. Atherosclerosis 223(1):177–183CrossRef Dong C et al (2012) Follow-up association study of linkage regions reveals multiple candidate genes for carotid plaque in Dominicans. Atherosclerosis 223(1):177–183CrossRef
39.
Zurück zum Zitat Ryu J, Lee C (2016) Genetic association of marbling score with intragenic nucleotide variants at selection signals of the bovine genome. Animal 10(4):566–570CrossRef Ryu J, Lee C (2016) Genetic association of marbling score with intragenic nucleotide variants at selection signals of the bovine genome. Animal 10(4):566–570CrossRef
Metadaten
Titel
Effect of L3MBTL3/PTPN9 polymorphisms on risk to alcohol-induced ONFH in Chinese Han population
verfasst von
Jun Xiong
Yi Niu
Wei Liu
Fan Zeng
Jian-Fei Cheng
Shi-Qiang Chen
Xiang-Zhou Zeng
Publikationsdatum
10.08.2021
Verlag
Springer International Publishing
Erschienen in
Neurological Sciences / Ausgabe 4/2022
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-021-05486-7

Weitere Artikel der Ausgabe 4/2022

Neurological Sciences 4/2022 Zur Ausgabe

Leitlinien kompakt für die Neurologie

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Akuter Schwindel: Wann lohnt sich eine MRT?

28.04.2024 Schwindel Nachrichten

Akuter Schwindel stellt oft eine diagnostische Herausforderung dar. Wie nützlich dabei eine MRT ist, hat eine Studie aus Finnland untersucht. Immerhin einer von sechs Patienten wurde mit akutem ischämischem Schlaganfall diagnostiziert.

Niedriger diastolischer Blutdruck erhöht Risiko für schwere kardiovaskuläre Komplikationen

25.04.2024 Hypotonie Nachrichten

Wenn unter einer medikamentösen Hochdrucktherapie der diastolische Blutdruck in den Keller geht, steigt das Risiko für schwere kardiovaskuläre Ereignisse: Darauf deutet eine Sekundäranalyse der SPRINT-Studie hin.

Frühe Alzheimertherapie lohnt sich

25.04.2024 AAN-Jahrestagung 2024 Nachrichten

Ist die Tau-Last noch gering, scheint der Vorteil von Lecanemab besonders groß zu sein. Und beginnen Erkrankte verzögert mit der Behandlung, erreichen sie nicht mehr die kognitive Leistung wie bei einem früheren Start. Darauf deuten neue Analysen der Phase-3-Studie Clarity AD.

Viel Bewegung in der Parkinsonforschung

25.04.2024 Parkinson-Krankheit Nachrichten

Neue arznei- und zellbasierte Ansätze, Frühdiagnose mit Bewegungssensoren, Rückenmarkstimulation gegen Gehblockaden – in der Parkinsonforschung tut sich einiges. Auf dem Deutschen Parkinsonkongress ging es auch viel um technische Innovationen.

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.