Department of Obstetrics and Gynecology, Virginia Commonwealth University Medical Center, Richmond, VA, USA.
Am J Obstet Gynecol. 2010 May;202(5):505.e1-5. doi: 10.1016/j.ajog.2010.01.014. Epub 2010 Mar 12.
We sought to determine allele frequencies of 3 LAMC1 single nucleotide polymorphisms (SNPs) in Caucasian and African American (AA) women with stage>II pelvic organ prolapse (POP) (cases) and in ethnicity-matched controls with stage<II POP. We also sought to determine if LAMC1 is associated with POP within ethnic groups.
Allelic discrimination was performed for LAMC1 SNPs rs10911193 (C/T), rs20563 (A/G), and rs20558 (T/C). SNP and haplotype-specific tests were used to examine associations among POP, ethnicity, and LAMC1.
In all, 411 women were enrolled. Significant differences in allele and haplotype frequencies existed among AAs and Caucasians: rs10911193 "T" (P=.0014); rs20563 "G" (P<.0001); rs20558 "C" (P<.0001); rs20563, rs20558 "GC" (P<.0001); and rs20563, rs20558 "AT" (P<.0001). No significant associations between POP and LAMC1 SNPs or haplotypes were found within ethnicities.
While significant differences were identified between AA and Caucasian women, no associations were found between any LAMC1 gene variant and advanced POP.
我们旨在确定 3 个 LAMC1 单核苷酸多态性(SNP)在高加索裔和非裔美国女性(病例)中晚期盆腔器官脱垂(POP)和种族匹配的晚期 POP 对照组中的等位基因频率。我们还试图确定 LAMC1 是否与各人群的 POP 相关。
对 LAMC1 SNP rs10911193(C/T)、rs20563(A/G)和 rs20558(T/C)进行等位基因鉴别。使用 SNP 和单倍型特异性检验来检验 POP、种族和 LAMC1 之间的关联。
共有 411 名女性入组。AA 和高加索裔之间的等位基因和单倍型频率存在显著差异:rs10911193“T”(P=.0014);rs20563“G”(P<.0001);rs20558“C”(P<.0001);rs20563、rs20558“GC”(P<.0001);rs20563、rs20558“AT”(P<.0001)。在各人群中,POP 与 LAMC1 SNP 或单倍型之间均无显著关联。
虽然在 AA 和高加索裔女性之间发现了显著差异,但任何 LAMC1 基因变异与晚期 POP 之间均无关联。