Expressive

rs112527210 (TOPORS): Preterm Birth Variant

Key takeaways

  • rs112527210 near TOPORS was identified in a GWAS on spontaneous preterm birth in Finnish-origin infants.
  • The study used 247 preterm infants and 419 full-term controls, a modest size by GWAS standards.
  • The study's strongest signal was in a different gene (SLIT2), making this locus an even more preliminary finding.
  • No dietary, lifestyle, or drug-response data are currently linked to this variant.

Key takeaways

  • rs112527210, a variant near the TOPORS gene, was identified in a genome-wide association study (GWAS) of spontaneous preterm birth in infants of Finnish origin.
  • The GWAS included 247 infants born prematurely (before 36 weeks of gestation) and 419 full-term controls - a modest sample size by current GWAS standards.
  • The study's strongest genome-wide signal was in a different gene (SLIT2), flagging this locus as an even more preliminary finding.
  • No lifestyle, dietary, or pharmacogenomic data are currently on file for this variant.

What the research says A GWAS examining fetal genetic contributions to spontaneous preterm birth (SPTB) in a Finnish-origin cohort of 247 SPTB infants and 419 term controls (gestational age 38-41 weeks) identified rs112527210, a variant near TOPORS, as a candidate signal. The same study separately analyzed 172 very preterm infants (born before 32 weeks of gestation) and included a replication step in a European cohort of 260 very preterm infants and 9,630 controls. Pathway analysis in this work highlighted axon guidance as the top-ranked biological pathway across genome-wide findings.

Reported associations

  • Spontaneous preterm birth: This variant was identified in a fetal GWAS on SPTB (247 cases, gestational age <36 weeks; 419 term controls, gestational age 38-41 weeks) in infants of Finnish origin; no effect size for this specific locus is reported in the available study text.

Evidence quality This variant has been reported in a single GWAS conducted in a Finnish-origin infant cohort (247 SPTB cases, 419 controls) - a modest sample size by current GWAS standards. The study's most strongly supported finding was at a different locus: rs116461311 in SLIT2 (minor allele frequency 0.05, p = 1.6×10^-6), which reached odds ratio 4.06 for very preterm birth (p = 1.55×10^-7) and was replicated in 260 very preterm infants and 9,630 European controls. Whether the TOPORS signal was similarly replicated is not described in the available text, and no effect size is reported for it specifically. The Finnish-specific study population limits generalizability to other ancestries. Evidence for this variant should be regarded as weak and preliminary pending independent replication in larger, multi-ancestry cohorts.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs112527210?

rs112527210 is a genetic variant located near the TOPORS gene. It was identified in a genome-wide association study examining the fetal genome's contribution to spontaneous preterm birth in a Finnish-origin infant population.

Is rs112527210 linked to preterm birth?

A GWAS in Finnish-origin infants found a candidate signal at this variant in the context of spontaneous preterm birth. However, the study's primary finding was at a different gene (SLIT2), and independent replication of the rs112527210 signal specifically has not been described.

How reliable is the evidence for rs112527210?

Evidence is weak and preliminary. It comes from a single GWAS with 247 preterm and 419 term infants, all of Finnish origin. No effect size is reported for this variant, and replication in independent cohorts has not been confirmed.

Are there lifestyle or dietary implications for rs112527210?

No lifestyle, dietary, or supplement findings are currently on file for this variant based on available research.

What study identified rs112527210?

It was identified in a genome-wide association study focused on fetal genetic factors in spontaneous preterm birth, conducted in a Finnish-origin infant cohort. The same study also found a stronger signal in the SLIT2 gene using a replication cohort of more than 9,000 European controls.