Associations between WNT signaling pathway-related gene polymorphisms and risks of osteoporosis development in Chinese postmenopausal women: a case–control study

Climacteric ◽  
2021 ◽  
pp. 1-7
Author(s):  
Z. Yang ◽  
J. Liu ◽  
J. Fu ◽  
S. Li ◽  
Z. Chai ◽  
...  
Keyword(s):  
Wnt Signaling ◽  
Postmenopausal Women ◽  
Signaling Pathway ◽  
Gene Polymorphisms ◽  
Case Control Study ◽  
Wnt Signaling Pathway ◽  
Case Control ◽  
Related Gene ◽  
Chinese Postmenopausal Women ◽  
Control Study

scholarly journals Investigation of Two Wnt Signalling Pathway Single Nucleotide Polymorphisms in a Breast Cancer-Affected Australian Population

2011 ◽  
Vol 14 (6) ◽  
pp. 562-567 ◽  
Author(s):  
Plamena N. Gabrovska ◽  
Robert A. Smith ◽  
Larisa M. Haupt ◽  
Lyn R. Griffiths
Keyword(s):  
Breast Cancer ◽  
Wnt Signaling ◽  
Signaling Pathway ◽  
Case Control Study ◽  
Wnt Signaling Pathway ◽  
Case Control ◽  
Allele Frequencies ◽  
Chi Square ◽  
Study Population ◽  
Control Study

In the mammary gland, Wnt signals are strongly implicated in initial development of the mammary rudiments and in the ductal branching and alveolar morphogenesis that occurs during pregnancy. Previously, we identified two Wnt signaling pathway-implicated genes, PPP3CA and MARK4, as having a role in more aggressive and potentially metastatic breast tumors. In this study, we examined two SNPs within PPP3CA and MARK4 in an Australian case-control study population for a potential role in human breast cancers. 182 cases and 180 controls were successfully genotyped for the PPP3CA SNP (rs2850328) and 182 cases and 177 controls were successfully genotyped for the MARK4 SNP (rs2395) using High Resolution Melt (HRM) analysis. Genotypes of randomly selected samples for both SNPs were validated by dye terminator sequencing. Chi-square tests were performed to determine any significant differences in the genotype and allele frequencies between the cases and controls. Chi-square analysis showed no statistically significant difference (ρ > .05) for genotype frequencies between cases and controls for rs2850328 (χ2 = 1.2, p = .5476) or rs2395 (χ2 = .3, p = .8608). Similarly, no statistical difference was observed for allele frequencies for rs2850328 (χ2 = .68, p = .4108) or rs2395 (χ2 = .02, p = .893). Even though an association of the polymorphisms rs2850328 and rs2395 and breast cancer was not detected in our case-control study population, other variants within the PPP3CA and MARK4 genes may still be associated with breast cancer, as both genes are implicated with processes involved in the disease as well as their mutual partaking in the Wnt signaling pathway.

scholarly journals Case Control Association Study of WNT Signaling Pathway-related Genes and Osteoporosis Risk Among Chinese Postmenopausal Women

2020 ◽  
Author(s):  
Zhe Yang ◽  
Jie Liu ◽  
Jinjin Fu ◽  
Zijia Chai ◽  
Shuwen Li ◽  
...  
Keyword(s):  
Wnt Signaling ◽  
Postmenopausal Women ◽  
Signaling Pathway ◽  
Genetic Polymorphisms ◽  
Wnt Signaling Pathway ◽  
Case Control ◽  
Additive Models ◽  
Bone Homeostasis ◽  
Chinese Postmenopausal Women ◽  
Osteoporosis Risk

Abstract Background: The WNT signaling pathway is involved in the regulation of bone homeostasis, and the effects of WNT signaling pathway related genes (WLS, WNT16 and LRP5) on osteoporosis risk among Chinese postmenopausal women is still unknown. Hence, we performed a case-control study to assess the association of WNT signaling pathway related genes and osteoporosis risk.Methods: This study involved 1026 women (515 osteoporosis patients and 511 controls) of postmenopausal age who were randomly sampled from Xi'an 630 Hospital, Shaanxi Province, China. Eleven genetic polymorphisms in WLS (rs2566755, rs12407028, rs2566752 and rs7554551), WNT16 (rs3779381, rs3801387, rs917727 and rs7776725) and LRP5 (rs2291467, rs11228240 and rs12272917) were selected and genotyped using the Agena MassARRAY iPLEX system. The association of the genetic polymorphisms and osteoporosis risk was assessed by odds ratios and 95% confidence intervals. The Multifactor Dimensionality Reduction (MDR) method was conducted to analyze SNP-SNP interaction.Results: We found that LRP5 polymorphisms (rs2291467, rs11228240 and rs12272917) were significantly associated with a decreased risk of osteoporosis in homozygotes, both in recessive and additive models (P < 0.05). Stratification analysis showed that LRP5 polymorphisms (rs2291467, rs11228240 and rs12272917) significantly decreased the osteoporosis risk in the subgroup of BMI ≤ 24 (P < 0.05) and that individuals carrying a heterozygote genotype of WNT16 polymorphisms (rs3779381, rs3801387, rs917727 and rs7776725) had a higher osteoporosis risk in the subgroup of BMI > 24 (P < 0.05). We observed that three blocks (block 1: rs2566755 and rs12407028, block 2: rs3779381, rs3801387, rs917727 and rs7776725, block 3: rs2291467 and rs11228240), Trs2291467Trs11228240 and Crs2291467Crs11228240 had a strong association with a lower risk of osteoporosis. Additionally, MDR analysis revealed that a four-locus model (rs2566752 and rs2566755 in WLS, rs7776725 in WNT16, rs12272917 in LRP5) was significantly associated with osteoporosis risk. Conclusions: Our findings suggested that WLS, WNT16 and LRP5 genetic polymorphisms were associated with osteoporosis risk among Chinese postmenopausal women.

scholarly journals Impact of one-carbon metabolism-related gene polymorphisms on risk of lung cancer in Japan: a case–control study

2007 ◽  
Vol 28 (8) ◽  
pp. 1718-1725 ◽  
Author(s):  
Takeshi Suzuki ◽  
Keitaro Matsuo ◽  
Akio Hiraki ◽  
Toshiko Saito ◽  
Shigeki Sato ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Carbon Metabolism ◽  
Gene Polymorphisms ◽  
Case Control Study ◽  
Case Control ◽  
Related Gene ◽  
One Carbon Metabolism ◽  
Control Study

scholarly journals Genetic association of TOLLIP gene polymorphisms and HIV infection: a case-control study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ming-Gui Wang ◽  
Jing Wang ◽  
Jian-Qing He
Keyword(s):  
Hiv Infection ◽  
Gene Polymorphisms ◽  
Case Control Study ◽  
Binary Logistic Regression ◽  
Case Control ◽  
Additive Models ◽  
Chinese Han ◽  
Interacting Protein ◽  
Control Study ◽  
Age And Sex

Abstract Background Previous studies have indicated that host genetic factors play an essential role in immunity to human immunodeficiency virus (HIV) infection. We aimed to investigate the association between the toll-interacting protein (TOLLIP) and mannose-binding lectin 2 (MBL2) genes and HIV infection susceptibility among Chinese Han patients. Methods This is a case-control study. A total of 435 HIV-infected patients and 1013 seronegative healthy individuals were recruited. DNA was extracted from whole blood. Two SNPs in the MBL2 gene (rs7096206 and rs1800450) and three SNPs in the TOLLIP gene (rs5743899, rs3750920, and rs5743867) were selected and genotyped using a SNPscan Kit (Cat#: G0104, Genesky Biotechnologies Inc., Shanghai, China). Odds ratios (ORs) and their 95% confidence intervals (CIs) were calculated using unconditional binary logistic regression. Results A significant association between the minor alleles rs5743899 (C allele) and rs5743867 (G allele) in the TOLLIP gene and susceptibility to HIV infection was found in this study after adjusting for age and sex (Pa = 0.011 and < 0.001, respectively). The rs5743867 in the TOLLIP gene was significantly associated with the risk of HIV infection in dominant, recessive, and additive models when adjusted for age and sex (Pa < 0.05). No significant association was found between MBL2 gene polymorphisms and HIV infection. Conclusion Our study found a statistically significant association between the two SNPs (rs5743867 and rs5743899) in the TOLLIP gene and susceptibility to HIV infection in a Chinese Han population.

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