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Do genetic polymorphisms of the vitamin D receptor contribute to breast/ovarian cancer? A systematic review and network meta-analysis.
Li, J, Li, B, Jiang, Q, Zhang, Y, Liu, A, Wang, H, Zhang, J, Qin, Q, Hong, Z, Li, BA
Gene. 2018;:211-227
Abstract
BACKGROUND To identify the most suitable genetic model for detecting the risk of breast cancer (BC)/ovarian cancer (OC) in specific populations. METHODS Databases were searched for related studies published up to October 2017. First, VDR genetic polymorphisms were compared in patients with and without cancer. Second, a network meta-analysis was used to reveal the relation between VDR genetic polymorphisms with disease outcomes. Subgroup analyses and a meta-regression were performed according to cancer types, ethnicity and genotypic method. The study is registered in PROSPERO with an ID: CRD42017075505. RESULTS Forty-five studies were eligible, which included 65,754 patients and 55 clinical analyses. Of genetic models, results suggested that the recessive model with the CDX2 polymorphism predicted the risk of BC in all cases. The recessive polymorphism model with the rs2228570 (FokI) polymorphism seemed to the best predictor of BC in Caucasian patients, whereas the homozygote model with the CDX2 polymorphism appeared to best predict BC in African-American patients. The homozygote model with the rs2228570 (FokI) polymorphism model appeared to detect the risk of OC in all cases, whereas the heterozygote model with the rs1544410 (BsmI) polymorphism seemed to detect the risk of OC in Caucasian patients. CONCLUSIONS By detecting the risk of BC, the recessive model with the rs2228570 (FokI) polymorphism is likely the best genetic model in Caucasian patients, and the homozygote model with the CDX2 polymorphism appears to be best genetic model in African-American patients. Moreover, for detecting clinical risk of OC, heterozygote models with the rs1544410 (BsmI) polymorphism is likely the best genetic model for detecting the risk of OC in Caucasian patients.
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The Effect of SCN9A Variation on Basal Pain Sensitivity in the General Population: An Experimental Study in Young Women.
Duan, G, Guo, S, Zhang, Y, Ying, Y, Huang, P, Wang, Q, Zhang, L, Zhang, X
The journal of pain. 2015;(10):971-80
Abstract
UNLABELLED SCN9A is a key player in various rare monogenic pain disorders, including absence of pain or extreme pain, indicating that SCN9A is critical in human pain perception. This study aimed to investigate the association between the single-nucleotide polymorphisms (SNPs) in SCN9A and basal pain sensitivity variability in the general population. We used a combined tag and candidate SNP approach to explore possible associations between SCN9A SNPs and basal pain sensitivity in 309 healthy female Chinese undergraduates. Mechanical and heat pain sensitivity were measured, and a total of 28 SNPs were included in the final correlation analysis. Four candidate SNPs (rs6746030, rs7595255, rs12622743, and rs11898284) and 10 tag SNPs were associated (P < .05) with different pain perception phenotypes and exhibited opposite effects, resulting in either hypersensitivity or hyposensitivity. Furthermore, of all these SNPs, rs16851778 showed the strongest significant (P = .003) association with lower mechanical pain sensitivity, which was strengthened in a subsequent replication sample with 260 young patients scheduled for elective gynecological surgery. These findings provided evidence that the variability of basal pain sensitivity was associated with SCN9A polymorphisms in the general population. PERSPECTIVE This study demonstrated that several candidate and tag SCN9A SNPs were associated with hypersensitivity or hyposensitivity to basal experimental pain stimulation. Moreover, we identified a novel SNP, i,e,, rs16851778, that was associated with lower mechanical pain sensitivity and that was strengthened in a subsequent replication sample.
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Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.
Cerhan, JR, Berndt, SI, Vijai, J, Ghesquières, H, McKay, J, Wang, SS, Wang, Z, Yeager, M, Conde, L, de Bakker, PI, et al
Nature genetics. 2014;(11):1233-8
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Abstract
Diffuse large B cell lymphoma (DLBCL) is the most common lymphoma subtype and is clinically aggressive. To identify genetic susceptibility loci for DLBCL, we conducted a meta-analysis of 3 new genome-wide association studies (GWAS) and 1 previous scan, totaling 3,857 cases and 7,666 controls of European ancestry, with additional genotyping of 9 promising SNPs in 1,359 cases and 4,557 controls. In our multi-stage analysis, five independent SNPs in four loci achieved genome-wide significance marked by rs116446171 at 6p25.3 (EXOC2; P = 2.33 × 10(-21)), rs2523607 at 6p21.33 (HLA-B; P = 2.40 × 10(-10)), rs79480871 at 2p23.3 (NCOA1; P = 4.23 × 10(-8)) and two independent SNPs, rs13255292 and rs4733601, at 8q24.21 (PVT1; P = 9.98 × 10(-13) and 3.63 × 10(-11), respectively). These data provide substantial new evidence for genetic susceptibility to this B cell malignancy and point to pathways involved in immune recognition and immune function in the pathogenesis of DLBCL.
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The association between the methionine/valine (M/V) polymorphism (rs1799990) in the PRNP gene and the risk of Alzheimer disease: an update by meta-analysis.
He, J, Li, X, Yang, J, Huang, J, Fu, X, Zhang, Y, Fan, H
Journal of the neurological sciences. 2013;(1-2):89-95
Abstract
BACKGROUND The M/V polymorphism in the PRNP gene has been extensively examined for the association to the risk of Alzheimer disease (AD); however, results from different studies have been inconsistent. The aim of this study is to evaluate the association between the M/V polymorphism in the PRNP gene and the risk of AD. METHODS A meta-analysis was carried out to analyze the association between the M/V polymorphism in the PRNP gene and the risk of AD. RESULTS A total of 4228 cases and 4324 controls in 16 case-control studies were included in the meta-analysis. The results indicated that the variant V allele carriers (VV+MV) had a 13% decreased risk of AD, when compared with the homozygote MM (VV+MV vs. MM: OR=0.87, 95% CI=0.79-0.96, P=0.004). In the subgroup analysis by ethnicity, significant decreased risks of AD were found in the Caucasian V allele carriers (OR=0.85, 95% CI=0.77-0.94, P=0.002), but not in Asian V allele carriers (OR=1.11, 95% CI=0.78-1.57, P=0.57). In the subgroup analysis by age of onset, significant decreased risks of AD were associated with V allele carriers in late-onset Alzheimer disease (OR=0.76, 95% CI=0.62-0.93, P=0.007) but not in early-onset Alzheimer disease (OR=0.86, 95% CI=0.70-1.06, P=0.17). CONCLUSIONS Our results suggest that the M/V polymorphism in the PRNP gene contributes to the susceptibility of Alzheimer disease.