Chen HY, Chung YW, Lin WY, et al. Collagen type 3 alpha 1 polymorphism and risk of pelvic organ prolapse
To investigate whether pelvic organ prolapse (POP) is associated with collagen 3 alpha 1 (COL3A1) polymorphisms and other factors.
A case-control association study was conducted with 84 women affected with POP and 147 controls. The genotypes of nucleotides COL3A1 rs1800255 and COL3A1 rs1801184 polymorphisms were ascertained by polymerase chain reaction and restriction fragment length polymorphism analysis.
The distribution of the COL3A1 rs1800255 genotypes was significantly different among affected women and controls. Older age and incidence of COL3A1 rs1800255 genotype AA were significantly associated with risk of POP.
There may be an association between COL3A1 genotype and risk of POP.
Available from: Serikbai Karimovich Abilev
- "The majority of multifactorial disorders are characterized by a large spectrum of genetic variations in disease modifying genes, whereas information about causative polymorphic genes is scarce. In contrast, the genetic studies of POP have been mainly focused on a limited number of causative genes, among them are the genes controlling the collagen and elastin synthesis and remodeling    , extracellular matrix metabolism [9, 13–16], and hormone receptors   . There are also three genome-wide linkage studies of the same group of researchers that have determined chromosome 9q21 , six other loci , and chromosomes 10q24–26 and 17q25  as the regions associated with a predisposition for advanced POP in European pedigrees. "
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ABSTRACT: Pelvic organ prolapse (POP) is a common highly disabling disorder with a large hereditary component. It is characterized by a loss of pelvic floor support that leads to the herniation of the uterus in or outside the vagina. Genome-wide linkage studies have shown an evidence of POP association with the region 9q21 and six other loci in European pedigrees. The aim of our study was to test the above associations in a case-control study in Russian population. Twelve SNPs including SNPs cited in the above studies and those selected using the RegulomeDB annotations for the region 9q21 were genotyped in 210 patients with POP (stages III-IV) and 292 controls with no even minimal POP. Genotyping was performed using the polymerase chain reaction with confronting two-pair primers (PCR-CTPP). Association analyses were conducted for individual SNPs, 9q21 haplotypes, and SNP-SNP interactions. SNP rs12237222 with the highest RegulomeDB score 1a appeared to be the key SNP in haplotypes associated with POP. Other RegulomeDB Category 1 SNPs, rs12551710 and rs2236479 (scores 1d and 1f, resp.), exhibited epistatic effects. In this study, we verified the region 9q21 association with POP in Russians, using RegulomeDB annotations.
Available from: Malcolm Collins
- "Furthermore, common variants within these collagen genes are associated with a number of multifactorial connective tissue phenotypes (Chen et al., 2008; Chou, Hung, Chen, Wu, & Tsai, 2004; Kluivers et al., 2009; Kong et al., 2007; O'Connell, Posthumus, & Collins, 2011; Posthumus et al., 2010; Tsukahara et al., 2005). Specifically, the non-synonymous COL3A1 rs1800255 (guanine/ adenine, G/A) SNP is associated with mitral valve prolapse (Chou et al., 2004) and pelvic organ prolapse (Chen et al., 2008; Kluivers et al., 2009). The amino acid transition results in an alanine changing to threonine at position 698. "
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ABSTRACT: Abstract Approximately 64-70% of the variability in joint range of motion (ROM) is heritable. A common variant within a type V collagen (COL5A1) gene is associated with joint range of motion. Like type V collagen, types III, VI and XII collagen are also involved in fibril assembly and/or diameter regulation. Mutations within the genes that encode these proteins, COL3A1, COL6A1 and COL12A1, also cause connective tissue hypermobility disorders and phenotypes. The aim of this study was to determine if variants within these genes are associated with measures of joint range of motion. Three hundred and fifty apparently healthy and physically active Caucasian participants were recruited. Anthropometric measurements were taken. Sit-and-reach (SR), straight leg raise (SLR) and total shoulder rotation (ShTR) range of motion were measured. All participants were genotyped for COL3A1 rs1800255, COL6A1 rs35796750 and COL12A1 rs970547. COL3A1 rs1800255, COL6A1 rs35796750 and COL12A1 rs970547 were not significantly associated with sit-and-reach, straight leg raise or total shoulder rotation range of motion. Furthermore, no significant age-genotype interaction effects were identified between the variants and range of motion measurements. None of the variants investigated in this study were significantly associated with any of the measures of range of motion used. Further studies are required to identify additional intrinsic and extrinsic factors that may determine range of motion, including the genetic component.
Available from: Léon van Kempen
- "However, not all studies find the same associations. Jeon et al.  found that the GG genotype of the collagen, type III , alpha 1 (COL3A1) polymorphism was significantly more prevalent among Korean women with POP, whereas both Kluivers et al.  and Chen et al.  concluded that the AA genotype was significantly associated with POP in Caucasian and Taiwanese females, respectively. On the other hand, Martins et al.  found no correlation between the COL3A1 polymorphism and POP in their population. "
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ABSTRACT: There is growing evidence that pelvic organ prolapse (POP) is at least partly caused by underlying hereditary risk factors. The aim of our study was to provide a systematic literature review and meta-analysis of clinical studies on family history of POP as a risk factor for POP in individual women.
The databases PubMed and Embase were searched. Clinical studies reporting on family history of POP in relation to POP in individual women were included.
Sixteen studies were included, of which eight enabled us to calculate a pooled odds ratio (OR). The pooled OR of POP in case of a positive family history of POP was 2.58 (95 % confidence interval 2.12-3.15).
Women with POP are substantially more likely to have family members with the same condition compared to women without POP. This strengthens the hypothesis that genetic predisposition plays an important role in the development of POP.
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