CAJ | 학술논문

目的探讨尾加压素Ⅱ(UTS2)基因多态性与多囊卵巢综合征(PCOS)发病的关系.方法用熔解温度不同的基因分型法.检测PCOS患者101例(PCOS组)及其父母202名和105名健康妇女(对照组)UTS2基因rs228648、rs2890565位点单核苷酸多态性(SNP),并检测基础状态下FSH、LH、睾酮、空腹血糖、空腹胰岛素水平.结果 PCOS组的UTS2基因rs228648 A/G多态性位点与对照组比较,基因型与等位基因频率均无明显差异,两组的SNP rs2890565基因型频率差异有统计学意义(P<0.05),PCOS组A等位基因频率明显高于对照组(P<0.05).传递不平衡检验(TDT)显示,SNP rs228648A/G在杂合子父母的2个不同等位基因无优势传递(P>0.05),而rs2890565 A/G在杂合子父母A等位基因优势传递(P<0.05).PCOS组UTS2基因SNP rs228648 GG基因型较携带A等位基因的PCOS患者稳态模型评估的胰岛素抵抗指数(HOMA-IR)明显增高(P<0.05).SNP rs2890565从和AG基因型空腹血糖、空腹胰岛素较GG基因型明显增高,从基因型HOMA-IR较GG基因型明显增高(P<0.05).结论 UTS2基因SNP rs228648 A/G多态性与PCOS无相关性,但与胰岛素抵抗存在关联.UTS2基因SNP rs2890565可能在PCOS的遗传易感性中起一定作用,A等位基因可能与PCOS的发生有关.
목적 탐토미가압소Ⅱ(UTS2)기인다태성여다낭란소종합정(PCOS)발병적관계.방법 용용해온도불동적기인분형법.검측PCOS환자101례(PCOS조)급기부모202명화105명건강부녀(대조조)UTS2기인rs228648、rs2890565위점단핵감산다태성(SNP),병검측기출상태하FSH、LH、고동、공복혈당、공복이도소수평.결과 PCOS조적UTS2기인rs228648 A/G다태성위점여대조조비교,기인형여등위기인빈솔균무명현차이,량조적SNP rs2890565기인형빈솔차이유통계학의의(P<0.05),PCOS조A등위기인빈솔명현고우대조조(P<0.05).전체불평형검험(TDT)현시,SNP rs228648A/G재잡합자부모적2개불동등위기인무우세전체(P>0.05),이rs2890565 A/G재잡합자부모A등위기인우세전체(P<0.05).PCOS조UTS2기인SNP rs228648 GG기인형교휴대A등위기인적PCOS환자은태모형평고적이도소저항지수(HOMA-IR)명현증고(P<0.05).SNP rs2890565종화AG기인형공복혈당、공복이도소교GG기인형명현증고,종기인형HOMA-IR교GG기인형명현증고(P<0.05).결론 UTS2기인SNP rs228648 A/G다태성여PCOS무상관성,단여이도소저항존재관련.UTS2기인SNP rs2890565가능재PCOS적유전역감성중기일정작용,A등위기인가능여PCOS적발생유관.
Objective To investigate the correlation of single nucleotide polymorphisms( SNP) of rs228648 and rs2890565 in urotensin Ⅱ (UTS2)gene with polycystic ovary syndrome(PCOS). Methods The genotypes of two SNPs in UTS2 gene were determined through polymerase chain reaction Tin-shift genotyping method. 101 Chinese Han families trios in Shandong Province consisting of fathers,mothers,and affected daughters with PCOS and 105 healthy women were recruited. The physiological and biochemical parameters including serum follicular stimulating hormone(FSH),luteinizing hormone( LH),testosterone,fasting plasma glucose,and insulin were also measured. Results The distributions of three genotypes and two alleles of SNP rs228648 in UTS2 gene were similar between PCOS group and control group. The distributions of genotypes of SNP rs2890565 in UTS2 gene differed significantly between PCOS group and control group (P<0. 05). The frequency of A allele of SNP rs2890565 in UTS2 gene was significantly higher in PCOS group than that in control group( P<0.05). Transmission disequilibrium test(TDT) did not show significantly biased transmission of two different alleles from parents to affected daughters at rs228648 locus (P>0. 05) ,but showed an excess transmission of A allele from heterozygous parents to affected offspring at rs2890565 locus (P<0. 05). The carriers with GG genotype of SNP rs228648 had significantly higher HOMA-IR compared to those with AA and AG genotypes. The carriers with AA or AG genotype of SNP rs2890565 had significantly higher fasting plasma glucose and fasting insulin compared to those with GG genotypes. HOMA-IR in cases with AA genotype was significantly higher than that with GG genotype. Conclusions There is no association of SNP rs228648 with PCOS, but exists association with insulin resistance. The genetic polymorphism of UTS2 gene rs2890565 may be associated with PCOS,and the higher frequency of A allele is likely to contribute to PCOS.