A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids

被引：97

作者：

Cha, Pei-Chieng ^{[1
]}

Takahashi, Atsushi ^{[2
]}

Hosono, Naoya ^{[3
]}

Low, Siew-Kee ^{[1
]}

Kamatani, Naoyuki

Kubo, Michiaki ^{[2
,3
]}

Nakamura, Yusuke ^{[1
]}

机构：

[1] Univ Tokyo, Inst Med Sci, Lab Mol Med, Ctr Human Genome, Tokyo, Japan

[2] RIKEN Ctr Genom Med, Lab Stat Anal, Yokohama, Kanagawa, Japan

[3] RIKEN Ctr Genom Med, Lab Genotyping Dev, Yokohama, Kanagawa, Japan

来源：

NATURE GENETICS | 2011年 / 43卷 / 05期

关键词：

EXTRACELLULAR-MATRIX; EXPRESSION; PATHOGENESIS; LEIOMYOMAS; NUCLEOTIDE; ETIOLOGY;

D O I：

10.1038/ng.805

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Uterine fibroids are a common benign tumor of the female genital tract. We conducted a genome-wide association study in which 457,044 SNPs were analyzed in 1,607 individuals with clinically diagnosed uterine fibroids and 1,428 female controls. SNPs showing suggestive associations (P < 5 x 10(-5)) were further genotyped in 3,466 additional cases and 3,245 female controls. Three loci on chromosomes 10q24.33, 22q13.1 and 11p15.5 revealed genome-wide significant associations with uterine fibroids. The SNPs showing the most significant association in a combination analysis at each of these loci were rs7913069 (P = 8.65 x 10(-14), odds ratio (OR) = 1.47), rs12484776 (P = 2.79 x 10(-12), OR = 1.23) and rs2280543 (P = 3.82 x 10(-12), OR = 1.39), respectively. Subsequent fine mapping of these regions will be necessary to pinpoint the causal variants. Our findings should shed light on the pathogenesis of uterine fibroids.

引用

页码：447 / +

页数：5

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