Ricardo M Cerda-Flores, Karen Paola Camarillo-Cárdenas, Gabriela Gutiérrez-Orozco, Mónica Patricia Villarreal-Vela, Raquel Garza-Guajardo, Marco Antonio Ponce-Camacho, Ana Lilia Castruita-Ávila, Juan Francisco González-Guerrero, Iram Pablo Rodríguez-Sánchez, Ana Laura Calderón-Garcidueñas, Hazyadee Frecia Rodríguez-Gutierrez, Juan Carlos Arellano-Barrientos, Oscar Vidal Gutierrez, Hugo Alberto Barrera Saldaña, María Lourdes Garza-Rodríguez
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The aims of this study were to describe the frequency of single nucleotide polymorphisms (SNPs) of ADIPOQ in Mexican women with BC and to determine if they show an association with it.</p><p><strong>Methods: </strong>DNA samples from 397 patients and 355 controls were tested for the ADIPOQ gene SNPs: rs2241766 (GT) and rs1501299 (GT) by TaqMan allelic discrimination assay. Hardy-Weinberg equilibrium (HWE) was tested. Multiple SNP inheritance models adjusted by age and body mass index (BMI) were examined for the SNP rs1501299.</p><p><strong>Results: </strong>We found that in the frequency analysis of rs1501299 without adjusting the BMI and age, the genotype distribution had a statistically significant difference (P = 0.003). The T allele was associated with a BC risk (OR, 1.99; 95% CI 1.13-3.51, TT vs. GG; OR, 1.53; 95% CI 1.12-2.09, GT vs. GG). The SNP rs2241766 was in HW disequilibrium in controls. In conclusion, the rs1501299 polymorphism is associated with a BC risk.</p><p><strong>Conclusions: </strong>Identification of the genotype of these polymorphisms in patients with BC can contribute to integrate the risk profile in both patients and their relatives as part of a comprehensive approach and increasingly more personalized medicine.</p>","PeriodicalId":9015,"journal":{"name":"BMC Medical Genetics","volume":" ","pages":"187"},"PeriodicalIF":0.0000,"publicationDate":"2020-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12881-020-01125-8","citationCount":"6","resultStr":"{\"title\":\"ADIPOQ single nucleotide polymorphisms and breast cancer in northeastern Mexican women.\",\"authors\":\"Ricardo M Cerda-Flores, Karen Paola Camarillo-Cárdenas, Gabriela Gutiérrez-Orozco, Mónica Patricia Villarreal-Vela, Raquel Garza-Guajardo, Marco Antonio Ponce-Camacho, Ana Lilia Castruita-Ávila, Juan Francisco González-Guerrero, Iram Pablo Rodríguez-Sánchez, Ana Laura Calderón-Garcidueñas, Hazyadee Frecia Rodríguez-Gutierrez, Juan Carlos Arellano-Barrientos, Oscar Vidal Gutierrez, Hugo Alberto Barrera Saldaña, María Lourdes Garza-Rodríguez\",\"doi\":\"10.1186/s12881-020-01125-8\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. 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引用次数: 6
摘要
背景:脂联素基因(ADIPOQ)多态性已被证明影响脂联素血清浓度，其中一些与乳腺癌(BC)风险相关。本研究的目的是描述患有BC的墨西哥女性ADIPOQ的单核苷酸多态性(snp)的频率，并确定它们是否与BC相关。方法:采用TaqMan等位基因鉴别法检测397例患者和355例对照者的ADIPOQ基因snp: rs2241766 (GT)和rs1501299 (GT)。测试Hardy-Weinberg平衡(HWE)。通过年龄和体重指数(BMI)调整多个SNP遗传模型，检测SNP rs1501299。结果:我们发现，在不调整BMI和年龄的情况下，rs1501299的频率分析中，基因型分布差异有统计学意义(P = 0.003)。T等位基因与BC风险相关(OR, 1.99;95% CI 1.13-3.51, TT vs. GG;或者,1.53;95% CI 1.12-2.09, GT vs. GG)。SNP rs2241766在对照中处于HW不平衡状态。总之，rs1501299多态性与BC风险相关。结论:确定BC患者中这些多态性的基因型有助于整合患者及其亲属的风险概况，作为综合方法和日益个性化的医疗的一部分。
ADIPOQ single nucleotide polymorphisms and breast cancer in northeastern Mexican women.
Background: Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequency of single nucleotide polymorphisms (SNPs) of ADIPOQ in Mexican women with BC and to determine if they show an association with it.
Methods: DNA samples from 397 patients and 355 controls were tested for the ADIPOQ gene SNPs: rs2241766 (GT) and rs1501299 (GT) by TaqMan allelic discrimination assay. Hardy-Weinberg equilibrium (HWE) was tested. Multiple SNP inheritance models adjusted by age and body mass index (BMI) were examined for the SNP rs1501299.
Results: We found that in the frequency analysis of rs1501299 without adjusting the BMI and age, the genotype distribution had a statistically significant difference (P = 0.003). The T allele was associated with a BC risk (OR, 1.99; 95% CI 1.13-3.51, TT vs. GG; OR, 1.53; 95% CI 1.12-2.09, GT vs. GG). The SNP rs2241766 was in HW disequilibrium in controls. In conclusion, the rs1501299 polymorphism is associated with a BC risk.
Conclusions: Identification of the genotype of these polymorphisms in patients with BC can contribute to integrate the risk profile in both patients and their relatives as part of a comprehensive approach and increasingly more personalized medicine.
期刊介绍：
BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease.
Note: BMC Medical Genetics is now closed. This journal has merged with BMC Medical Genomics, a broad-scope, open access community journal for all medical genetics and genomics research.
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