COL1A1 Sp1-binding site polymorphism as a risk factor for genital prolapse

Abstract

The objective of this study was to verify the possible association between the Sp1-binding site polymorphism and genital prolapse. A case-control study was conducted in 107 patients with stages III and IV genital prolapse. The control group included 209 women with stages 0 and I. The polymorphism of type I collagen Sp1-binding site was identified by amplification of the first intron of the COL1A1 gene. We did not find differences in the prevalence of the GT and TT genotypes between the groups (p = 0.34), even when we grouped patients with at least one polymorphic allele (GT and TT) and compared them with patients without the polymorphic allele (GG; p = 0.17) The presence of at least one vaginal delivery, family history for prolapse, and macrosomatic fetus were independent risk factors for prolapse. In conclusion, the COL1A1 Sp1-binding site was not significantly associated with genital prolapse among our study subjects.

Genetic epidemiology of pelvic organ prolapse: a systematic review

“…Of these articles, 21 pertained to the genetic epidemiology of POP (Figure 1). This included one GWAS(17), two linkage analyses(18,19) and 18 case-control candidate gene association studies(20–37) involving 10 candidate genes (collagen type 1 alpha 1 ( COL1A1 ) (n=5)(26–28,33,35), collagen type 3 alpha 1 ( COL3A1 ) (n=4)(20,30–32), laminin gamma-1 ( LAMC1 ) (n=3) (19,23,36), matrix metalloproteinase 9 ( MMP9 ) (n=3)(24,28,37), matrix metalloproteinases 1 and 3 ( MMP1 & 3 ) (n=2)(28,34), lysyl oxidase-like 1 ( LOXL1 ) (n=1)(29), estrogen receptor alpha ( ER α)(n=1)(21), estrogen receptor beta ( ER β)(n=1)(22), progesterone receptor (PGR) (n=1)(25) (Table 1). All studies were published in 2007 or later.…”

“…All other studies were population based(20–25,28,30,31,36,37). Studies looked at Asian (33.3%, 7/21) (20–22,24–26,30), European (23.8%, 5/21) (27,28,31,33,34) and U.S. Caucasian populations (23.8%, 5/21(17–19,36,37); two studies included sub-analyses of African Americans(23,29) and Brazilian white and non-white (9.5%, 2/21)(32,35) populations (Table 1). When reported, the mean or median age of prolapse cases ranged from 48 to 66 years(17,18,21–24,27–37) and mean or median age of controls ranged from 49 to 69 years (17,21–24,27–37).…”

Association between polymorphism of β3-adrenoceptor gene and overactive bladder: a meta-analysis

“…A single nucleotide polymorphism (SNP) is the most abundant type of DNA sequence variation in the human genome (Skorupski et al, 2006;Rodrigues et al, 2008). The gene encoding human β3-AR is polymorphic; the first SNP reported in the β3-AR gene was an exchange of the amino acid tryptophan at position 64 of the receptor protein with arginine, referred to as the Trp64Arg polymorphism (Clément et al, 1995).…”

Recent studies of genetic dysfunction in pelvic organ prolapse: The role of collagen defects

“…[57][58][59][60][61][62][63][64] Nucleotide polymorphisms in the COL3A1 genes are associated with prolapse, thus suggesting the role of defective collagen III in the genesis of prolapse. [57][58][59] Interestingly, type IV Ehlers-Danlos syndrome is due to mutations in the same COL3A1 gene.…”

“…65 However, an association between nucleotide polymorphism in COL1A1 (the gene which codes for collagen I) and prolapse has not yet been proved. 60,61 A mutation in the gene expressing MMP is also associated with prolapse. [62][63][64] Chen et al, 62 conducted a case-control study in Taiwanese women with prolapse (n = 92) versus control (n = 152).…”