rs700651

This is a intron variant variant in the BOLL gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

hippocampus molecular layer volume

Liu N et al. “Cross-ancestry genome-wide association meta-analyses of hippocampal and subfield volumes.” Nature Genetics 55(7):1126-1137 (2023)

Allele A

OR 0.05

p 1.0e-9

N 38,977

Large GWAS

European, East Asian

brain aneurysm

Bilguvar K et al. “Susceptibility loci for intracranial aneurysm in European and Japanese populations.” Nature Genetics 40(12):1472-7 (2008)

Allele G

OR 1.24

p 4.0e-8

N 7,856

Large GWAS

multi-ancestry

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Research that mentions this SNP (1)

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Increased risk of stroke in oral contraceptive users carried replicated genetic variants: a population-based case–control study in China

AssociationN=1,282Chun Wang et al.(2012)· Human Genetics

This population-based case-control study examined associations between three GWAS-identified SNPs (rs700651, rs10958409, rs1333040) and stroke risk in 451 Chinese female stroke cases and 831 controls. The study replicated associations of rs10958409 (OR 1.54, 95% CI 1.20-1.98 under additive model) and rs1333040 (OR 2.16, 95% CI 1.19-3.95 under dominant model) with stroke risk, particularly hemorrhagic stroke. Combined oral contraceptive (COC) use with risk alleles further elevated stroke risk, with COC users carrying rs10958409 GA/AA or rs1333040 CT/TT genotypes showing 2.59-fold and 4.24-fold increased overall stroke risk, and up to 15-fold increased hemorrhagic stroke risk.

Traits studied:Cerebral hemorrhageCerebral infarctionHemorrhagic strokeIntracranial aneurysmIschemic strokeStrokeSubarachnoid hemorrhage

PubMed DOI Metascience Observatory

About BOLL

This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]