The place of androgen receptor gene mutation analysis in the molecular diagnosis of prostate cancer and genotype-phenotype relationship

被引:3
|
作者
Kizilay, Fuat [1 ]
Kalemci, Mustafa Serdar [1 ]
Simsir, Adnan [1 ]
Turna, Burak [1 ]
Nazli, Oktay [1 ]
Berdeli, Afig [1 ]
机构
[1] Ege Univ, Dept Urol, Fac Med, Izmir, Turkey
关键词
Androgen receptor; mutation; polymorphism; prostatic hyperplasia; prostatic neoplasm; CAG REPEAT LENGTH; TRANSACTIVATION FUNCTION; RISK; POLYMORPHISMS; MARKERS; MEN;
D O I
10.3906/sag-1210-97
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Aim: To determine the relationship between androgen receptor (AR) gene polymorphism and prostate cancer in our society. Materials and methods: Thirty-nine patients diagnosed with prostate cancer and 34 benign prostatic hyperplasia (BPH) patients who were diagnosed in 2010 met the study criteria. The inclusion criteria included patients whose diagnosis was confirmed with a biopsy, with the presence of adequate pathologic material for review, between the ages of 40 and 80, and who were healthy men without a family history of prostate cancer. The exclusion criteria excluded men diagnosed with another cancer and those who had kin with a history of prostate cancer. A direct DNA sequencing method was utilized for detection of polymorphisms. Results: CAG repeat length varied from 13 to 28 (mean: 21.67) for the BPH group and 12 to 28 (mean: 21.74) for the prostate cancer group. Prostate-specific antigen (PSA) density and the androgen receptor (AR) CAG repeat had a statistically significant negative correlation in the BPH group. A statistically significant difference was associated between AR CAG repeat and PSA density. Conclusion: Randomized prospective studies should be planned with larger patient and control groups and with more variables, which may open new horizons in prostate cancer screening and early detection.
引用
收藏
页码:261 / 266
页数:6
相关论文
共 50 条
  • [31] Genotype-phenotype variations in cardiomyopathies caused by a cardiac troponin I gene mutation
    Konno, T.
    Ino, H.
    Fujino, N.
    Hayashi, K.
    Uchiyama, K.
    Hayashi, T.
    Sakamoto, Y.
    Yamagishi, M.
    EUROPEAN HEART JOURNAL, 2006, 27 : 432 - 432
  • [32] Gene Mutation and Genotype-Phenotype Description in Corneal Dystrophy Associated with TGFBI Genes
    Ke, Xu
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (08)
  • [33] The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome
    Van Langen, IM
    Birnie, E
    Alders, M
    Jongbloed, RJ
    Le Marec, H
    Wilde, AAM
    JOURNAL OF MEDICAL GENETICS, 2003, 40 (02) : 141 - 145
  • [34] Mutation spectra and genotype-phenotype analysis of congenital hypothyroidism in a neonatal population
    Huang, Xiang
    Shao, Qiaoyi
    Weng, Shi
    Chen, Wenfang
    Yuan, Weixi
    Tan, Jiayu
    Yang, Xuexi
    Su, Xi
    BIOMEDICAL REPORTS, 2025, 22 (02)
  • [35] Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations
    Zhang, Bo
    Lu, Lin
    Lu, Zhaolin
    JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2017, 45 (02) : 481 - 492
  • [36] Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis
    Huang, Jiannan
    Xu, Wenshuai
    Liu, Peng
    Liu, Yaping
    Shen, Cheng
    Liu, Song
    Wang, Yani
    Wang, Jun
    Zhang, Tengyue
    He, Yudi
    Cheng, Chongsheng
    Yang, Luning
    Zhang, Weihong
    Tian, Xinlun
    Xu, Kai-Feng
    BMC PULMONARY MEDICINE, 2022, 22 (01)
  • [37] GENOTYPE-PHENOTYPE CORRELATIONS IN A POPULATION ANALYSIS OF THE PHENYLALANINE HYDROXYLASE GENE
    Groselj, U.
    Tansek, Zerjav M.
    Kovac, J.
    Hovnik, T.
    Podkrajsek, Trebusak K.
    Battelino, T.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S34 - S34
  • [38] Genotype-phenotype analysis of a novel mutation of FBN1 gene in a Chinese Marfan syndrome family
    Ying Zhang
    Lin Zhang
    Peng Fan
    Kunqi Yang
    Xianliang Zhou
    中国循环杂志, 2018, (S1) : 125 - 125
  • [39] The CAG repeat within the androgen receptor gene and its relationship to prostate cancer
    Giovannucci, E
    Stampfer, MJ
    Krithivas, K
    Brown, M
    Brufsky, A
    Talcott, J
    Hennekens, CH
    Kantoff, PW
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (07) : 3320 - 3323
  • [40] Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1
    Franke, P
    Leboyer, M
    Gänsicke, M
    Weiffenbach, O
    Biancalana, V
    Cornillet-Lefebre, P
    Croquette, MF
    Froster, U
    Schwab, SG
    Poustka, F
    Hautzinger, M
    Maier, W
    PSYCHIATRY RESEARCH, 1998, 80 (02) : 113 - 127