Standard

Glaucoma (primary open-angle)

near CTTNBP2 · rs13438572

Where this position leads

What the study found

Who was studied 52 South Asian ancestry cases, 8,378 South Asian ancestry controls, 243 Admixed American ancestry cases, 9,103 Admixed American ancestry controls, 483 African ancestry cases, 26,323 African ancestry controls, 9,715 East Asian ancestry cases, 260,245 East Asian ancestry controls, 16,355 European ancestry cases, 1,156,550 European ancestry controls; replicated in 356 African ancestry cases, 9,168 African ancestry controls, 385 European ancestry cases, 34,351 European ancestry controls.

The effect Each copy of the G allele shifted the measure 0.0847 higher (95% confidence interval 0.057-0.113); p = 3 × 10⁻⁹.

How common The G allele had a frequency of about 42% in the people studied.

Where it sits Chromosome 7, band 7q31.31 — between genes, 96.6 kb from CTTNBP2.

What each result means

C/C No copy of the version the research linked to Glaucoma (primary open-angle). This is the starting point the study compared everyone against.

C/G One copy of the version the research linked to Glaucoma (primary open-angle). That is a smaller link than two copies.

G/G Two copies of the version the research linked to Glaucoma (primary open-angle). That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

Zhou W, Kanai M, Wu KH, Rasheed H, Tsuo K, Hirbo JB, Wang Y, Bhattacharya A, Zhao H, Namba S, Surakka I, Wolford BN

and 140 more — show all

Lo Faro V, Lopera-Maya EA, Läll K, Favé MJ, Partanen JJ, Chapman SB, Karjalainen J, Kurki M, Maasha M, Brumpton BM, Chavan S, Chen TT, Daya M, Ding Y, Feng YA, Guare LA, Gignoux CR, Graham SE, Hornsby WE, Ingold N, Ismail SI, Johnson R, Laisk T, Lin K, Lv J, Millwood IY, Moreno-Grau S, Nam K, Palta P, Pandit A, Preuss MH, Saad C, Setia-Verma S, Thorsteinsdottir U, Uzunovic J, Verma A, Zawistowski M, Zhong X, Afifi N, Al-Dabhani KM, Al Thani A, Bradford Y, Campbell A, Crooks K, de Bock GH, Damrauer SM, Douville NJ, Finer S, Fritsche LG, Fthenou E, Gonzalez-Arroyo G, Griffiths CJ, Guo Y, Hunt KA, Ioannidis A, Jansonius NM, Konuma T, Lee MTM, Lopez-Pineda A, Matsuda Y, Marioni RE, Moatamed B, Nava-Aguilar MA, Numakura K, Patil S, Rafaels N, Richmond A, Rojas-Muñoz A, Shortt JA, Straub P, Tao R, Vanderwerff B, Vernekar M, Veturi Y, Barnes KC, Boezen M, Chen Z, Chen CY, Cho J, Smith GD, Finucane HK, Franke L, Gamazon ER, Ganna A, Gaunt TR, Ge T, Huang H, Huffman J, Katsanis N, Koskela JT, Lajonchere C, Law MH, Li L, Lindgren CM, Loos RJF, MacGregor S, Matsuda K, Olsen CM, Porteous DJ, Shavit JA, Snieder H, Takano T, Trembath RC, Vonk JM, Whiteman DC, Wicks SJ, Wijmenga C, Wright J, Zheng J, Zhou X, Awadalla P, Boehnke M, Bustamante CD, Cox NJ, Fatumo S, Geschwind DH, Hayward C, Hveem K, Kenny EE, Lee S, Lin YF, Mbarek H, Mägi R, Martin HC, Medland SE, Okada Y, Palotie AV, Pasaniuc B, Rader DJ, Ritchie MD, Sanna S, Smoller JW, Stefansson K, van Heel DA, Walters RG, Zöllner S, Martin AR, Willer CJ, Daly MJ, Neale BM

Cell genomics · 2022 · PMID 36777996 · open access

Questions about rs13438572

What is rs13438572?

rs13438572 is a single position in the genome, in or near the near CTTNBP2 gene. Published research associates it with glaucoma (primary open-angle). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs13438572 linked to?

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

Does having rs13438572 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 rs13438572 come from?

GWAS Catalog, Cell genomics 2022, PMID:36777996. 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.

Glaucoma (primary open-angle) (rs13438572). MyGeneLog™. https://www.mygenelog.com/variants/rs13438572

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