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Endometriosis

near CD109 · rs4540228

Where this position leads

What the study found

Who was studied 58,961 European ancestry cases, 700,345 European ancestry controls, 1,713 Japanese ancestry cases, 1,581 Japanese ancestry controls.

The effect Each copy of the C allele carried 1.05 times the odds of Endometriosis (95% confidence interval 1.04-1.07); p = 2 × 10⁻¹¹.

Where it sits Chromosome 6, band 6q13 — between genes, 75 kb from CD109.

What each result means

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

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

T/T No copy of the version the research linked to Endometriosis. This is the starting point the study compared everyone against.

Source

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

Rahmioglu N, Mortlock S, Ghiasi M, Møller PL, Stefansdottir L, Galarneau G, Turman C, Danning R, Law MH, Sapkota Y, Christofidou P, Skarp S

and 121 more — show all

Giri A, Banasik K, Krassowski M, Lepamets M, Marciniak B, Nõukas M, Perro D, Sliz E, Sobalska-Kwapis M, Thorleifsson G, Topbas-Selcuki NF, Vitonis A, Westergaard D, Arnadottir R, Burgdorf KS, Campbell A, Cheuk CSK, Clementi C, Cook J, De Vivo I, DiVasta A, Dorien O, Donoghue JF, Edwards T, Fontanillas P, Fung JN, Geirsson RT, Girling JE, Harkki P, Harris HR, Healey M, Heikinheimo O, Holdsworth-Carson S, Hostettler IC, Houlden H, Houshdaran S, Irwin JC, Jarvelin MR, Kamatani Y, Kennedy SH, Kepka E, Kettunen J, Kubo M, Kulig B, Kurra V, Laivuori H, Laufer MR, Lindgren CM, MacGregor S, Mangino M, Martin NG, Matalliotaki C, Matalliotakis M, Murray AD, Ndungu A, Nezhat C, Olsen CM, Opoku-Anane J, Padmanabhan S, Paranjpe M, Peters M, Polak G, Porteous DJ, Rabban J, Rexrode KM, Romanowicz H, Saare M, Saavalainen L, Schork AJ, Sen S, Shafrir AL, Siewierska-Górska A, Słomka M, Smith BH, Smolarz B, Szaflik T, Szyłło K, Takahashi A, Terry KL, Tomassetti C, Treloar SA, Vanhie A, Vincent K, Vo KC, Werring DJ, Zeggini E, Zervou MI, Adachi S, Buring JE, Ridker PM, D'Hooghe T, Goulielmos GN, Hapangama DK, Hayward C, Horne AW, Low SK, Martikainen H, Chasman DI, Rogers PAW, Saunders PT, Sirota M, Spector T, Strapagiel D, Tung JY, Whiteman DC, Giudice LC, Velez-Edwards DR, Uimari O, Kraft P, Salumets A, Nyholt DR, Mägi R, Stefansson K, Becker CM, Yurttas-Beim P, Steinthorsdottir V, Nyegaard M, Missmer SA, Montgomery GW, Morris AP, Zondervan KT

DBDS Genomic Consortium · FinnGen Study · FinnGen Endometriosis Taskforce · Celmatix Research Team · 23andMe Research Team

Nature genetics · 2023 · PMID 36914876

Questions about rs4540228

What is rs4540228?

rs4540228 is a single position in the genome, in or near the near CD109 gene. Published research associates it with endometriosis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs4540228 linked to?

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

Does having rs4540228 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 rs4540228 come from?

GWAS Catalog, Nature genetics 2023, PMID:36914876. 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.

Endometriosis (rs4540228). MyGeneLog™. https://www.mygenelog.com/variants/rs4540228

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