医学研究生学报
醫學研究生學報
의학연구생학보
JOURNAL OF MEDICAL POSTGRADUATE
2014年
6期
596-599
,共4页
甄鑫%颜桂军%孙海翔%乔迪%王勇
甄鑫%顏桂軍%孫海翔%喬迪%王勇
견흠%안계군%손해상%교적%왕용
多囊卵巢综合征%CYP19%单核苷酸多态性
多囊卵巢綜閤徵%CYP19%單覈苷痠多態性
다낭란소종합정%CYP19%단핵감산다태성
Polycystic ovarian syndrome%CYP19%Single nucleotide polymorphism
目的: CYP19基因编码产物芳香化酶在雄激素代谢中发挥重要作用。文中探讨CYP19 A1基因单核苷酸多态性(single nucleotide polymorphism, SNP)位点与多囊卵巢综合征(polycystic ovary syndrome, PCOS)发病及性激素的相关性。方法采用病例-对照的研究方法,以聚合酶链反应-限制性片段长度多态性法对373例PCOS者( PCOS组)和313例正常对照者(对照组)中CYP19 A1基因多态性位点rs2899470进行基因分型,分析2组基因型频率及等位基因频率,并比较不同基因型与年龄、初潮年龄、体重指数( body mass index , BMI )及血清多种性激素水平的关系。结果对照组与PCOS组在年龄、BMI、激素水平差异有统计学意义(P<0.01),在AAM方面差异无统计学意义(P>0.01)。 rs2899470基因型频率在PCOS组(GG:44.5%;TG:49.6%; TT:5.9%)和对照组( GG:39.3%; TG:48.6%; TT:12.1%)的分布差异有统计学意义( P =0.013),PCOS组等位基因G的频率明显高于对照组(69.3% vs 63.6%,P=0.025)。 PCOS组雌激素/睾酮值与rs2899470基因型有关,PCOS组GG、TG、TT基因型差异有统计学意义(P<0.01)。结论 CYP19A1基因多态位点rs2899470与PCOS发病有相关性。 PCOS患者的rs2899470基因型与血清雌激素/睾酮水平有关。
目的: CYP19基因編碼產物芳香化酶在雄激素代謝中髮揮重要作用。文中探討CYP19 A1基因單覈苷痠多態性(single nucleotide polymorphism, SNP)位點與多囊卵巢綜閤徵(polycystic ovary syndrome, PCOS)髮病及性激素的相關性。方法採用病例-對照的研究方法,以聚閤酶鏈反應-限製性片段長度多態性法對373例PCOS者( PCOS組)和313例正常對照者(對照組)中CYP19 A1基因多態性位點rs2899470進行基因分型,分析2組基因型頻率及等位基因頻率,併比較不同基因型與年齡、初潮年齡、體重指數( body mass index , BMI )及血清多種性激素水平的關繫。結果對照組與PCOS組在年齡、BMI、激素水平差異有統計學意義(P<0.01),在AAM方麵差異無統計學意義(P>0.01)。 rs2899470基因型頻率在PCOS組(GG:44.5%;TG:49.6%; TT:5.9%)和對照組( GG:39.3%; TG:48.6%; TT:12.1%)的分佈差異有統計學意義( P =0.013),PCOS組等位基因G的頻率明顯高于對照組(69.3% vs 63.6%,P=0.025)。 PCOS組雌激素/睪酮值與rs2899470基因型有關,PCOS組GG、TG、TT基因型差異有統計學意義(P<0.01)。結論 CYP19A1基因多態位點rs2899470與PCOS髮病有相關性。 PCOS患者的rs2899470基因型與血清雌激素/睪酮水平有關。
목적: CYP19기인편마산물방향화매재웅격소대사중발휘중요작용。문중탐토CYP19 A1기인단핵감산다태성(single nucleotide polymorphism, SNP)위점여다낭란소종합정(polycystic ovary syndrome, PCOS)발병급성격소적상관성。방법채용병례-대조적연구방법,이취합매련반응-한제성편단장도다태성법대373례PCOS자( PCOS조)화313례정상대조자(대조조)중CYP19 A1기인다태성위점rs2899470진행기인분형,분석2조기인형빈솔급등위기인빈솔,병비교불동기인형여년령、초조년령、체중지수( body mass index , BMI )급혈청다충성격소수평적관계。결과대조조여PCOS조재년령、BMI、격소수평차이유통계학의의(P<0.01),재AAM방면차이무통계학의의(P>0.01)。 rs2899470기인형빈솔재PCOS조(GG:44.5%;TG:49.6%; TT:5.9%)화대조조( GG:39.3%; TG:48.6%; TT:12.1%)적분포차이유통계학의의( P =0.013),PCOS조등위기인G적빈솔명현고우대조조(69.3% vs 63.6%,P=0.025)。 PCOS조자격소/고동치여rs2899470기인형유관,PCOS조GG、TG、TT기인형차이유통계학의의(P<0.01)。결론 CYP19A1기인다태위점rs2899470여PCOS발병유상관성。 PCOS환자적rs2899470기인형여혈청자격소/고동수평유관。
Objective The CYP19 gene product enzyme aromatase mediates the conversion of the androgen testosterone to es -tradiol.The aim of this study is to investigate whether the CYP19A1 gene single nucleotide polymorphism (SNP) is associated with the susceptibility to polycystic ovary syndrome (PCOS) and serum hormone levels. Methods We conducted a case-controlled study, which included 373 PCOS patients and 313 healthy controls.We genotyped SNP rs2899470 in the subjects using the polymerase chain re-action-restriction fragment length polymorphism ( PCR-RFLP) method and analyzed the frequencies of genotypes and alleles as well as the association of different genotypes with age , menarchal age, body mass index (BMI), and serum levels of hormones. Results The gen-otypic distributions of rs2899470 GG, TG, and TT in the PCOS women were 44.5%, 49.6%, and 5.9%, respectively, significantly dif-ferent from 39.3%, 48.6%, and 12.1%in the healthy controls (P=0.013).The frequency of the G allele was 69.3%in the former, remarkably higher than 63.6%in the latter (P=0.025).The rs2899470 genotypic frequencies were associated with the serum E 2/T lev-els in the PCOS patients. Conclusion SNP rs2899470 in the CYP19A1 gene is associated with the susceptibility to PCOS , and so is the genotype of rs2899470 with serum E2/T levels, which may be attributed mainly to the reduced activity of aromatase .