rs115281615 - C1QTNF7-AS1
Magnitude 4.5 · 1 study on file
Reported associations
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A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21 - Unknown journal (n.d.) · Unknown authors · PubMed 31830031
ABSTRACT: Human nondisjunction errors in oocytes are the leading cause of pregnancy loss, and for pregnancies that continue to term, the leading cause of intellectual disabilities and birth defects. For the first time, we have conducted a candidate gene and genome-wide association study to identify genes associated with maternal nondisjunction of chromosome 21 as a first step to understand predisposing factors. A total of 2,186 study participants were genotyped on the HumanOmniExpressExome-8v1-2 array. These participants included 749 live birth offspring with standard trisomy 21 and 1,437 parents. Genotypes from the parents and child were then used to identify mothers with nondisjunction errors derived in the oocyte and to establish the type of error (meiosis I or meiosis II). We performed
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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genetic counseling for family planning Moderate
rs115281615 is associated with increased maternal meiosis II nondisjunction risk, which increases risk of chromosome 21 aneuploidy in offspring
if planning pregnancy, discuss implications with a genetic counselor
Screening
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prenatal genetic screening Moderate
rs115281615 carriers have increased risk of maternal meiosis II errors, which increases risk of chromosome 21 aneuploidy in offspring
if pregnant, discuss prenatal screening options with obstetrician