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卵巢癌风险与涉及雌激素分解代谢的基因多态性
Ovarian Cancer Risk and Polymorphisms Involved in Estrogen Catabolism
Holt SK, Rossing MA, Malone KE  2009/5/27 10:50:39 
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Cancer Epidemiol Biomarkers Prev, 2007,
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Abstract
Polymorphisms within genes responsible for estrogen catabolism could alter cellular levels of genotoxic 4-hydroxylated catechol estrogens and antiangiogenic 2-methoxyestradiol, thus influencing risk of developing ovarian cancer. We carried out a population-based case-control study of 310 epithelial ovarian cancer cases and 585 controls in African-American and Caucasian women ages 35 to 54 years from Seattle, Atlanta, and Detroit metropolitan areas. Subjects were interviewed and genotyped for CYP1A1 m1, m2, m3, and m4; CYP1B1 Arg48Gly, Ala119Ser, Val432Leu, and Asn453Ser; COMT Val158Met; UGT1A1 A(TA)nTAA; and SULT1A1 Arg213His polymorphisms. Unconditional logistic regression was used to calculate odds ratios (OR). Haplotypes were inferred and analyzed using models based on expectation-maximization with progressive ligation and Bayesian coalescence theory. CYP1B1 Leu432 carriers were at increased risk of ovarian cancer, with an adjusted OR of 1.5 (95% confidence interval, 1.1-2.3) compared with Val432 homozygotes. The most common CYP1B1 haplotype was Arg48-Ala119-Val432-Asn453. All other haplotypes with frequencies >5% contained the Leu432 allele. In diplotype analyses, relative to women homozygous for Arg48-Ala119-Val432-Asn453, women with diplotypes containing at least one Leu432 allele had adjusted ORs ranging from 1.3 to 2.2. Among women homozygous for COMT Met158, carriers of CYP1B1 Leu432 had a 2.6-fold increase in risk relative to CYP1B1 Val432 homozygotes (95% confidence interval, 1.1-5.9). This latter result is opposite in direction from a similar analysis conducted by other investigators in a different study population. No association of ovarian cancer risk was observed with any of the other polymorphisms examined, either alone or in combination.
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疾病资源中心  疾病资源中心
病例分析 <span class="ModTitle_Intro_Right" id="EPMI_Home_MedicalCases_Intro_div" onclick="javascript:window.location='http://www.elseviermed.cn/tabid/127/Default.aspx'" onmouseover="javascript:document.getElementById('EPMI_Home_MedicalCases_Intro_div').style.cursor='pointer';document.getElementById('EPMI_Home_MedicalCases_Intro_div').style.textDecoration='underline';" onmouseout="javascript:document.getElementById('EPMI_Home_MedicalCases_Intro_div').style.textDecoration='none';">[栏目介绍]</span>  病例分析 [栏目介绍]
甲状腺功能亢进合并黄疸

 王燕燕 王曙

上海交通大学附属瑞金医院内分泌科

患者，女，69岁。2009年1月无明显诱因下出现乏力，当时程度较轻，未予以重视。2009年3月患者乏力症状加重，尿色逐渐加深，大便习惯改变，颜色变淡。4月18日入我院感染科治疗，诉轻度头晕、心慌，体重减轻10kg。无肝区疼痛，无发热，无腹痛、腹泻、腹胀、里急后重，无恶性、呕吐等。入院半月前于外院就诊，查肝功能：ALT 601IU/L，AST 785IU/L，TBIL 97.7umol/L，白蛋白 41g/L，甲状腺功能：游离T3 30.6pmol/L，游离T4 51.9pmol/L，心电图示快速房颤。
 

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