【摘要】：研究背景 尋常型痤瘡是一種常見的累及毛囊皮脂腺的慢性炎癥性疾病。雄激素在痤瘡發(fā)生過程中起著至關重要的作用,但其具體機制至今仍不十分明了。已有兩個雄激素合成酶和雄激素受體的編碼基因的多態(tài)性被證明和痤瘡的發(fā)病有關。芳香化酶可將雄激素轉化為雌激素,并可在皮脂腺表達。CYP19a1為編碼此酶的基因,該基因序列的變異可能會影響芳香化酶的表達,進而影響雄雌激素的比例,最終導致痤瘡的發(fā)生。 目的 初步探索CYP19a1基因的單核苷酸多態(tài)性與中國漢族成人尋常型痤瘡發(fā)病、嚴重程度的關系。 方法 本研究共納入了309例Pillsbury I-IV°的患者,均為中國華東地區(qū)漢族人群,分為輕度組(I°，，99例)和中重度組(Ⅱ-Ⅳ。,210例)。從患者外周靜脈血中抽取DNA組,多重PCR獲取目的基因片段后,采用SNaPshot分型技術檢測CYP19al基因上的10個候選SNP位點的基因型,對比其分布頻率在兩組患者中的差異,并進行單倍型分析,統(tǒng)計分析采用SPSS16.0、Unphase、Hapstata等軟件。 結果 1.rs6493497位點不符合Hardy-Weinberg平衡檢驗(輕度組p=2.659e-08,中重度組p=3.097e-11),將其剔除。 2.rs28892002位點(總基因頻率為CC54.7%,CT38.2%,CT7.1%)的基因頻率在輕度組和中重度組之間存在顯著差異(p值0.05)。顯性遺傳模式下,CC基因型的分布頻率在中重度組(58.6%)顯著高于輕度組(46.5%)(p=0.046),OR=0.614,95%CI=0.379-0.993；相乘遺傳模式下,等位基因T的分布頻率在中重度組(23.8%)顯著低于輕度組(31.3%)(p=0.048),OR=0.685,95%CI=0.471-0.997。余SNP位點基因頻率分布兩組間未得到陽性結果。 3.連鎖不平衡結果顯示, rs2255192-rs4646-rs10064-rs700519間rs2414096-rs4775936間、rs28892002-rs752760間有著良好的連鎖不平衡效應,單倍型分析顯示,rs2255192-rs4646-rs10064-rs700519這組單倍型在顯性模式下,其C-C-A-C、T-C-A-C基因型在兩組間分布有統(tǒng)計學差異,P值分別為0.0000、0.0216,OR值分別為5.0198和2.0707。 結論 結果提示,中國漢族人群中,CYP19a1基因上的rs28892002位點CC野生純合子基因型可能增加中重度尋常型痤瘡的患病風險；rs2255192-rs4646-rs10064-rs700519這組單倍型在顯性模式下,其C-C-A-C、T-C-A-C可能減少中重度尋常型痤瘡的患病風險。
[Abstract]:Background Acne vulgaris is a common chronic inflammatory disease involving sebaceous gland of hair follicles. Androgen plays an important role in acne, but its specific mechanism is still not very clear. The polymorphism of two genes encoding androgen synthase and androgen receptor has been proved to be associated with acne. Aromatase can convert androgen into estrogen and can be expressed in sebaceous gland. CYP19a1 is the gene encoding this enzyme, and the variation of this gene sequence may affect the expression of aromase, and then affect the proportion of androgen, and eventually lead to acne. Objective to explore the relationship between single nucleotide polymorphism of CYP19a1 gene and the severity and severity of acne vulgaris in Chinese Han adults. Methods A total of 309 patients with Pillsbury I-IV 擄were divided into mild group (I 擄, 99 cases) and moderate to severe group (II-IV., 210 cases). The DNA group was extracted from the peripheral venous blood of the patients. After the target gene fragments were obtained by multiplex PCR, the genotypes of 10 candidate SNP loci on the CYP19al gene were detected by SNaPshot typing technique, and the distribution frequencies were compared between the two groups. Haplotype analysis was carried out, and SPSS16.0,Unphase,Hapstata and other software were used for statistical analysis. Results the 1.rs6493497 locus was not in accordance with Hardy-Weinberg balance test (p 鈮

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