Heinonen Seppo, Korhonen Seija, Helisalmi Seppo, Koivunen Riitta, Tapanainen Juha, Hippeläinen Maritta, Laakso Markku
Department of Obstetrics and Gynecology, Kuopio University Hospital, Kuopio, Finland.
Gynecol Endocrinol. 2005 Sep;21(3):165-9. doi: 10.1080/09513590500238796.
In the present study we determined whether genetic variability in the gene encoding adiponectin is associated with polycystic ovary syndrome (PCOS). Altogether 143 Caucasian women with PCOS and 245 healthy controls were genotyped for two single nucleotide polymorphisms (SNPs) in exon 2 and intron 2 in the adiponectin gene. Single-point analysis was expanded to pair-of-loci haplotype analysis to examine the estimated haplotype frequencies of the two SNPs, of unknown phase, in the PCOS and control groups. Estimated haplotype frequencies were assessed using the maximum-likelihood method, employing an expectation-maximization algorithm. A significantly different allele distribution in intron 2 SNP was observed between the groups, with the T allele being significantly reduced in the PCOS group (25.9%) compared with the control group (32.7%) ( p = 0.047), at an odds ratio of 0.72 (95% confidence interval 0.52-0.99). Otherwise, the allele and genotype distributions in either SNP were not statistically different between the groups. In haplotype estimation analysis, there was a lower frequency of the haplotype T-T in the PCOS group (25.9%) than in the control group (32.7%) ( p = 0.058). We conclude that polymorphisms of the adiponectin gene may be implicated in individual susceptibility to PCOS.
在本研究中，我们确定了脂联素编码基因的遗传变异性是否与多囊卵巢综合征（PCOS）相关。对总共143名患有PCOS的白种女性和245名健康对照者进行了脂联素基因外显子2和内含子2中两个单核苷酸多态性（SNP）的基因分型。单点分析扩展到双位点单倍型分析，以检查PCOS组和对照组中两个相位未知的SNP的估计单倍型频率。使用期望最大化算法的最大似然法评估估计的单倍型频率。两组之间观察到内含子2 SNP的等位基因分布存在显著差异，PCOS组中的T等位基因（25.9%）与对照组（32.7%）相比显著减少（p = 0.047），优势比为0.72（95%置信区间0.52 - 0.99）。否则，两组中任一SNP的等位基因和基因型分布在统计学上没有差异。在单倍型估计分析中，PCOS组中T - T单倍型的频率（25.9%）低于对照组（32.7%）（p = 0.058）。我们得出结论，脂联素基因的多态性可能与个体对PCOS的易感性有关。
