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Pulmonary function

MMP15 · rs12447804

Where this position leads

Condition: Pulmonary Function (Lung Capacity)

What the study found

Who was studied 48,201 European ancestry individuals; replicated in 46,411 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.038 lower (95% confidence interval 0.024-0.052); p = 4 × 10⁻⁸.

How common The T allele had a frequency of about 21% in the people studied.

Where it sits Chromosome 16, band 16q21 — a synonymous change in MMP15.

What each result means

C/C No copy of the version the research linked to Pulmonary function. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Pulmonary function. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Pulmonary function. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function

Soler Artigas M, Loth DW, Wain LV, Gharib SA, Obeidat M, Tang W, Zhai G, Zhao JH, Smith AV, Huffman JE, Albrecht E, Jackson CM

and 158 more — show all

Evans DM, Cadby G, Fornage M, Manichaikul A, Lopez LM, Johnson T, Aldrich MC, Aspelund T, Barroso I, Campbell H, Cassano PA, Couper DJ, Eiriksdottir G, Franceschini N, Garcia M, Gieger C, Gislason GK, Grkovic I, Hammond CJ, Hancock DB, Harris TB, Ramasamy A, Heckbert SR, Heliövaara M, Homuth G, Hysi PG, James AL, James AL, Jankovic S, Joubert BR, Karrasch S, Klopp N, Koch B, Kritchevsky SB, Launer LJ, Liu Y, Loehr LR, Lohman K, Loos RJ, Lumley T, Al Balushi KA, Ang WQ, Barr RG, Beilby J, Blakey JD, Boban M, Boraska V, Brisman J, Britton JR, Brusselle GG, Cooper C, Curjuric I, Dahgam S, Deary IJ, Ebrahim S, Eijgelsheim M, Francks C, Gaysina D, Granell R, Gu X, Hankinson JL, Hardy R, Harris SE, Henderson J, Henry A, Hingorani AD, Hofman A, Holt PG, Hui J, Hunter ML, Imboden M, Jameson KA, Kerr SM, Kolcic I, Kronenberg F, Liu JZ, Marchini J, McKeever T, Morris AD, Olin AC, Porteous DJ, Postma DS, Rich SS, Ring SM, Rivadeneira F, Rochat T, Sayer AA, Sayers I, Sly PD, Smith GD, Sood A, Starr JM, Uitterlinden AG, Vonk JM, Wannamethee SG, Whincup PH, Wijmenga C, Williams OD, Wong A, Mangino M, Marciante KD, McArdle WL, Meibohm B, Morrison AC, North KE, Omenaas E, Palmer LJ, Pietiläinen KH, Pin I, Pola Sbreve Ek O, Pouta A, Psaty BM, Hartikainen AL, Rantanen T, Ripatti S, Rotter JI, Rudan I, Rudnicka AR, Schulz H, Shin SY, Spector TD, Surakka I, Vitart V, Völzke H, Wareham NJ, Warrington NM, Wichmann HE, Wild SH, Wilk JB, Wjst M, Wright AF, Zgaga L, Zemunik T, Pennell CE, Nyberg F, Kuh D, Holloway JW, Boezen HM, Lawlor DA, Morris RW, Probst-Hensch N, Kaprio J, Wilson JF, Hayward C, Kähönen M, Heinrich J, Musk AW, Jarvis DL, Gläser S, Järvelin MR, Ch Stricker BH, Elliott P, O'Connor GT, Strachan DP, London SJ, Hall IP, Gudnason V, Tobin MD

International Lung Cancer Consortium · GIANT consortium

Nature genetics · 2011 · PMID 21946350 · open access

Questions about rs12447804

What is rs12447804?

rs12447804 is a single position in the genome, in or near the MMP15 gene. Published research associates it with pulmonary function. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs12447804 linked to?

On MyGeneLog this position is linked to Pulmonary Function (Lung Capacity). The research behind each link, and its sources, are set out on that condition page.

Does having rs12447804 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 rs12447804 come from?

GWAS Catalog, Nat Genet 2011, PMID:21946350. 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.

Pulmonary function (rs12447804). MyGeneLog™. https://www.mygenelog.com/variants/rs12447804

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