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Lung function (forced vital capacity)

EFEMP1 · rs1430193

Where this position leads

What the study found

Who was studied 52,253 European ancestry indiviudals; replicated in 32,917 European ancestry individuals, 6,070 African American individuals, 849 Hispanic individuals, 8,637 East Asian ancestry individuals.

The effect Each copy of the T allele shifted the measure 21.1 ml lower (95% confidence interval 15.25-27.00); p = 2 × 10⁻¹².

How common The T allele had a frequency of about 37% in the people studied.

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

What each result means

A/A No copy of the version the research linked to Lung function (forced vital capacity). This is the starting point the study compared everyone against.

A/T One copy of the version the research linked to Lung function (forced vital capacity). That is a smaller link than two copies.

T/T Two copies of the version the research linked to Lung function (forced vital capacity). That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Genome-wide association analysis identifies six new loci associated with forced vital capacity

Loth DW, Soler Artigas M, Gharib SA, Wain LV, Franceschini N, Koch B, Pottinger TD, Smith AV, Duan Q, Oldmeadow C, Lee MK, Strachan DP

and 148 more — show all

James AL, Huffman JE, Vitart V, Ramasamy A, Wareham NJ, Kaprio J, Wang XQ, Trochet H, Kähönen M, Flexeder C, Albrecht E, Lopez LM, de Jong K, Thyagarajan B, Alves AC, Enroth S, Omenaas E, Joshi PK, Fall T, Viñuela A, Launer LJ, Loehr LR, Fornage M, Li G, Wilk JB, Tang W, Manichaikul A, Lahousse L, Harris TB, North KE, Rudnicka AR, Hui J, Gu X, Lumley T, Wright AF, Hastie ND, Campbell S, Kumar R, Pin I, Scott RA, Pietiläinen KH, Surakka I, Liu Y, Holliday EG, Schulz H, Heinrich J, Davies G, Vonk JM, Wojczynski M, Pouta A, Johansson A, Wild SH, Ingelsson E, Rivadeneira F, Völzke H, Hysi PG, Eiriksdottir G, Morrison AC, Rotter JI, Gao W, Postma DS, White WB, Rich SS, Hofman A, Aspelund T, Couper D, Smith LJ, Psaty BM, Lohman K, Burchard EG, Uitterlinden AG, Garcia M, Joubert BR, McArdle WL, Musk AB, Hansel N, Heckbert SR, Zgaga L, van Meurs JB, Navarro P, Rudan I, Oh YM, Redline S, Jarvis DL, Zhao JH, Rantanen T, O'Connor GT, Ripatti S, Scott RJ, Karrasch S, Grallert H, Gaddis NC, Starr JM, Wijmenga C, Minster RL, Lederer DJ, Pekkanen J, Gyllensten U, Campbell H, Morris AP, Gläser S, Hammond CJ, Burkart KM, Beilby J, Kritchevsky SB, Gudnason V, Hancock DB, Williams OD, Polasek O, Zemunik T, Kolcic I, Petrini MF, Wjst M, Kim WJ, Porteous DJ, Scotland G, Smith BH, Viljanen A, Heliövaara M, Attia JR, Sayers I, Hampel R, Gieger C, Deary IJ, Boezen HM, Newman A, Jarvelin MR, Wilson JF, Lind L, Stricker BH, Teumer A, Spector TD, Melén E, Peters MJ, Lange LA, Barr RG, Bracke KR, Verhamme FM, Sung J, Hiemstra PS, Cassano PA, Sood A, Hayward C, Dupuis J, Hall IP, Brusselle GG, Tobin MD, London SJ

Nature genetics · 2014 · PMID 24929828

Questions about rs1430193

What is rs1430193?

rs1430193 is a single position in the genome, in or near the EFEMP1 gene. Published research associates it with lung function (forced vital capacity). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1430193 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 rs1430193 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 rs1430193 come from?

GWAS Catalog, Nat Genet 2014, PMID:24929828. 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.

Lung function (forced vital capacity) (rs1430193). MyGeneLog™. https://www.mygenelog.com/variants/rs1430193

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