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White matter hyperintensity volume

EFEMP1 · rs7596872

Where this position leads

What the study found

Who was studied 48,454 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0969 higher (95% confidence interval 0.078-0.116); p = 4 × 10⁻²⁴.

Where it sits Chromosome 2, band 2p16.1 — in an intron of EFEMP1.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of White matter hyperintensity volume compared to the general population.

A/C Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with White matter hyperintensity volume.

C/C Published research associates this genotype with typical/baseline likelihood of White matter hyperintensity volume — no copies of the reported risk allele.

Source

Cerebral small vessel disease genomics and its implications across the lifespan

Sargurupremraj M, Suzuki H, Jian X, Sarnowski C, Evans TE, Bis JC, Eiriksdottir G, Sakaue S, Terzikhan N, Habes M, Zhao W, Zhao W

and 105 more — show all

Armstrong NJ, Hofer E, Yanek LR, Hagenaars SP, Kumar RB, van den Akker EB, McWhirter RE, Trompet S, Mishra A, Saba Y, Satizabal CL, Beaudet G, Petit L, Tsuchida A, Zago L, Schilling S, Sigurdsson S, Gottesman RF, Lewis CE, Aggarwal NT, Lopez OL, Smith JA, Valdés Hernández MC, van der Grond J, Wright MJ, Knol MJ, Dörr M, Thomson RJ, Bordes C, Le Grand Q, Duperron MG, Smith AV, Knopman DS, Schreiner PJ, Evans DA, Rotter JI, Beiser AS, Maniega SM, Beekman M, Trollor J, Stott DJ, Vernooij MW, Wittfeld K, Niessen WJ, Soumaré A, Boerwinkle E, Sidney S, Turner ST, Davies G, Thalamuthu A, Völker U, van Buchem MA, Bryan RN, Dupuis J, Bastin ME, Ames D, Teumer A, Amouyel P, Kwok JB, Bülow R, Deary IJ, Schofield PR, Brodaty H, Jiang J, Tabara Y, Setoh K, Miyamoto S, Yoshida K, Nagata M, Kamatani Y, Matsuda F, Psaty BM, Bennett DA, De Jager PL, Mosley TH, Sachdev PS, Schmidt R, Warren HR, Evangelou E, Trégouët DA, Ikram MA, Wen W, DeCarli C, Srikanth VK, Jukema JW, Slagboom EP, Kardia SLR, Okada Y, Mazoyer B, Wardlaw JM, Nyquist PA, Mather KA, Grabe HJ, Schmidt H, Van Duijn CM, Gudnason V, Longstreth WT Jr, Launer LJ, Lathrop M, Seshadri S, Tzourio C, Adams HH, Matthews PM, Fornage M, Debette S

International Network against Thrombosis (INVENT) Consortium · International Headache Genomics Consortium (IHGC)

Nature communications · 2020 · PMID 33293549 · open access

Questions about rs7596872

What is rs7596872?

rs7596872 is a single position in the genome, in or near the EFEMP1 gene. Published research associates it with white matter hyperintensity volume. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs7596872 linked to?

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

Does having rs7596872 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 rs7596872 come from?

GWAS Catalog, Nature communications 2020, PMID:33293549. 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.

White matter hyperintensity volume (rs7596872). MyGeneLog™. https://www.mygenelog.com/variants/rs7596872

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