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Menarche (age at onset)

NFAT5 · rs1364063

Where this position leads

What the study found

Who was studied 86,142 European ancestry female individuals, 557 Old Order Amish (founder/genetic isolate) female individuals, 1,103 Erasmus Rucphen (founder/genetic isolate) female individuals; replicated in Up to 12,813 European ancestry female individuals, 910 Val Borbera (founder/genetic isolate) female individuals, 348 Orcadian (founder/genetic isolate) female individuals, 338 Friuli Venezia Giulia (founder/genetic isolate) female individuals, 322 Carlantino (founder/genetic/isolate) female individuals.

The effect Each copy of the C allele shifted the measure 2.1 week higher (95% confidence interval 1.32-2.88); p = 2 × 10⁻⁸.

How common The C allele had a frequency of about 43% in the people studied.

Where it sits Chromosome 16, band 16q22.1 — between genes, 10.4 kb from NFAT5.

What each result means

C/C Two copies of the version the research linked to Menarche (age at onset). 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 Menarche (age at onset). That is a smaller link than two copies.

T/T No copy of the version the research linked to Menarche (age at onset). This is the starting point the study compared everyone against.

Source

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

Elks CE, Perry JR, Sulem P, Chasman DI, Franceschini N, He C, Lunetta KL, Visser JA, Byrne EM, Cousminer DL, Gudbjartsson DF, Esko T

and 162 more — show all

Feenstra B, Hottenga JJ, Koller DL, Kutalik Z, Lin P, Mangino M, Marongiu M, McArdle PF, Smith AV, Stolk L, van Wingerden SH, Zhao JH, Albrecht E, Corre T, Ingelsson E, Hayward C, Magnusson PK, Smith EN, Ulivi S, Warrington NM, Zgaga L, Alavere H, Amin N, Aspelund T, Bandinelli S, Barroso I, Berenson GS, Bergmann S, Blackburn H, Boerwinkle E, Buring JE, Busonero F, Campbell H, Chanock SJ, Chen W, Cornelis MC, Couper D, Coviello AD, d'Adamo P, de Faire U, de Geus EJ, Deloukas P, Döring A, Smith GD, Easton DF, Eiriksdottir G, Emilsson V, Eriksson J, Ferrucci L, Folsom AR, Foroud T, Garcia M, Gasparini P, Geller F, Gieger C, Gudnason V, Hall P, Hankinson SE, Ferreli L, Heath AC, Hernandez DG, Hofman A, Hu FB, Illig T, Järvelin MR, Johnson AD, Karasik D, Khaw KT, Kiel DP, Kilpeläinen TO, Kolcic I, Kraft P, Launer LJ, Laven JS, Li S, Liu J, Levy D, Martin NG, McArdle WL, Melbye M, Mooser V, Murray JC, Murray SS, Nalls MA, Navarro P, Nelis M, Ness AR, Northstone K, Oostra BA, Peacock M, Palmer LJ, Palotie A, Paré G, Parker AN, Pedersen NL, Peltonen L, Pennell CE, Pharoah P, Polasek O, Plump AS, Pouta A, Porcu E, Rafnar T, Rice JP, Ring SM, Rivadeneira F, Rudan I, Sala C, Salomaa V, Sanna S, Schlessinger D, Schork NJ, Scuteri A, Segrè AV, Shuldiner AR, Soranzo N, Sovio U, Srinivasan SR, Strachan DP, Tammesoo ML, Tikkanen E, Toniolo D, Tsui K, Tryggvadottir L, Tyrer J, Uda M, van Dam RM, van Meurs JB, Vollenweider P, Waeber G, Wareham NJ, Waterworth DM, Weedon MN, Wichmann HE, Willemsen G, Wilson JF, Wright AF, Young L, Zhai G, Zhuang WV, Bierut LJ, Boomsma DI, Boyd HA, Crisponi L, Demerath EW, van Duijn CM, Econs MJ, Harris TB, Hunter DJ, Loos RJ, Metspalu A, Montgomery GW, Ridker PM, Spector TD, Streeten EA, Stefansson K, Thorsteinsdottir U, Uitterlinden AG, Widen E, Murabito JM, Ong KK, Murray A

GIANT Consortium

Nature genetics · 2010 · PMID 21102462

Questions about rs1364063

What is rs1364063?

rs1364063 is a single position in the genome, in or near the NFAT5 gene. Published research associates it with menarche (age at onset). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1364063 linked to?

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

Does having rs1364063 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 rs1364063 come from?

GWAS Catalog, Nat Genet 2010, PMID:21102462. 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.

Menarche (age at onset) (rs1364063). MyGeneLog™. https://www.mygenelog.com/variants/rs1364063

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