【摘要】：研究背景女性型禿發(fā)(female pattern hair loss, FPHL)是常見的女性毛發(fā)疾病,表現(xiàn)為頭頂或頂前區(qū)頭發(fā)密度的彌漫性降低,部分患者可伴有前發(fā)際線的后移。女性型禿發(fā)的病因除遺傳因素外還包括雄激素升高、缺鐵以及代謝異常等,其中雄激素的作用尤為令人關(guān)注,雄激素與毛囊雄激素受體結(jié)合后可使毛囊發(fā)生萎縮和退化,CYP19A1基因以及雄激素受體(androgen receptor, AR)基因在調(diào)節(jié)女性體內(nèi)雄激素代謝及發(fā)揮作用中起到重要作用。目的探討CYP19A1基因的單核苷酸多態(tài)性及AR基因CAG重復(fù)序列與中國漢族人群女性型禿發(fā)的關(guān)聯(lián)性。方法研究對象為中國漢族200例女性型禿發(fā)患者(Ludwig II級142例,LudwigⅢ級58例)和200例健康對照,抽取外周血后分離純化出基因組DNA,采用PCR技術(shù)擴增目的基因后進行測序,分別采用SNaPshot分型技術(shù)檢測CYP19A1基因候選SNP位點的基因型,熒光標記擴增產(chǎn)物長度多態(tài)分析方法分析CAG重復(fù)序列的多態(tài)性。結(jié)果1.所有位點均符合Hardy-Weinberg平衡檢驗。2. rs6493497、rs7176005的等位基因頻率在病例組和正常對照組之間存在顯著差異(p=0.001)：對于rs6493497位點,病例組(A=62,G=338),對照組(A=100,G=300),p=0.001；對于rs7176005位點,病例組(T=62,C=338),對照組(T=100,C=300),p=0.001；在基因型的分析中,rs6493497、rs7176005的基因型分布在病例組和正常對照組之間存在顯著差異(p=0.003)：對于rs6493497位點,病例組(AA=6,AG=50,GG=144),對照組(AA=12,AG=76,GG=112),p=0.003；對于rs7176005位點,病例組(TT=6, CT=50, CC=144)對照組(TT=6, CT=50,CC=144), p=0.003。3. rs6493497、rs7176005的等位基因頻率在中度組和重度組之間存在顯著差異(p=0.006),對于rs6493497位點,中度組(A=53,G=231),重度組(A=9,G=107),p=0.006；對于rs7176005位點,中度組(T=53,C=231),重度組(T=9,C=107),p=0.006；在基因型的分析中,rs6493497、rs7176005的基因型分布在中度組和重度對照組之間存在顯著差異(p=0.028)：對于rs6493497位點,中度組(AA=6,AG=41,GG=95),重度組(AA=0,AG=9,GG=49), p=0.028;對于rs7176005位點,中度組(TT=6,CT=41,CC=95),重度組(TT=0,CT=9,CC=49), p=0.028。4.連鎖不平衡結(jié)果顯示,rs6493497、rs7176005間連鎖完全不平衡(D’=1,r2=1)。5.余SNP位點基因頻率及基因型分布在兩組間未得到陽性結(jié)果。6.病例組和對照組的AR基因CAG重復(fù)均數(shù)分別為23.73±2.04和23.90±2.13,兩組之間差異無統(tǒng)計學意義(p=0.481)；Ludwig Ⅱ級及Ludwig Ⅲ級病例組的CAG重復(fù)均數(shù)分別為23.60±1.92和24.07±2.28,兩組之間差異無統(tǒng)計學意義(p=0.164)。結(jié)論CYP19A1基因rs6493497、rs7176005位點與中國漢族人群女性型禿發(fā)相關(guān),其GG、CC野生純合子基因型可能增加女性型禿發(fā)的患病風險；AR基因CAG重復(fù)序列與中國漢族人群女性型禿發(fā)無相關(guān)性。
[Abstract]:Background female alopecia (female pattern hair loss, FPHL) is a common female hair disease characterized by diffuse decrease of hair density in the head or anterior parietal region and some patients may be accompanied by the backward shift of the forehair line. In addition to genetic factors, the causes of female alopecia include increased androgen, iron deficiency and abnormal metabolism, among which the role of androgen is of particular concern, androgen binding with androgen receptor in hair follicles can lead to atrophy and degeneration of hair follicles. CYP19A1 gene and androgen receptor (androgen receptor, AR) gene play an important role in regulating androgen metabolism in women. Objective to investigate the association between single nucleotide polymorphism of CYP19A1 gene and CAG repeats of AR gene and female alopecia in Chinese Han population. Methods two hundred female alopecia patients (Ludwig II grade 142, Ludwig 鈪，

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