Standard

Diastolic blood pressure

OPA1 · rs528908640

Where this position leads

What the study found

Who was studied 19,546 British ancestry individuals from 6863 families..

The effect Each copy of the C allele shifted the measure 14.7 mmHg higher (95% confidence interval 9.55-19.79); p = 2 × 10⁻⁸.

How common The C allele had a frequency of about 0% in the people studied.

Where it sits Chromosome 3, band 3q29 — in an intron of OPA1.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Diastolic blood pressure compared to the general population.

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Diastolic blood pressure.

T/T Published research associates this genotype with typical/baseline likelihood of Diastolic blood pressure — no copies of the reported risk allele.

Source

Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants

Nagy R, Boutin TS, Marten J, Huffman JE, Kerr SM, Campbell A, Evenden L, Gibson J, Amador C, Howard DM, Navarro P, Morris A

and 13 more — show all

Deary IJ, Hocking LJ, Padmanabhan S, Smith BH, Joshi P, Wilson JF, Hastie ND, Wright AF, McIntosh AM, Porteous DJ, Haley CS, Vitart V, Hayward C

Genome medicine · 2017 · PMID 28270201 · open access

Questions about rs528908640

What is rs528908640?

rs528908640 is a single position in the genome, in or near the OPA1 gene. Published research associates it with diastolic blood pressure. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs528908640 linked to?

On MyGeneLog this position is linked to Blood Pressure. The research behind each link, and its sources, are set out on that condition page.

Does having rs528908640 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs528908640 come from?

GWAS Catalog, Genome Med 2017, PMID:28270201. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Diastolic blood pressure (rs528908640). MyGeneLog™. https://www.mygenelog.com/variants/rs528908640

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