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Lung disease severity in cystic fibrosis

HLA-DRA · rs117230773

Where this position leads

Condition: Cystic Fibrosis

rs117230773 Condition: Cystic Fibrosis Cystic Fibrosis Condition rs117230773 rs117230773 HLA-DRA

What the study found

Who was studied 4,139 European and other ancestry p.Phe508del homozygote cases, 2,226 European and other ancestry cases.

The effect Each copy of the A allele shifted the measure 0.13 lower; p = 4 × 10−6.

How common The A allele had a frequency of about 36% in the people studied.

Where it sits Chromosome 6, band 6p21.32 — in an intron of HLA-DRB9.

What each result means

A/A Two copies of the version the research linked to Lung disease severity in cystic fibrosis. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Lung disease severity in cystic fibrosis. That is a smaller link than two copies.
G/G No copy of the version the research linked to Lung disease severity in cystic fibrosis. This is the starting point the study compared everyone against.
Source
Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis
Corvol H, Blackman SM, Boëlle PY, Gallins PJ, Pace RG, Stonebraker JR, Accurso FJ, Clement A, Collaco JM, Dang H, Dang AT, Franca A
and 19 more — show all
Gong J, Guillot L, Keenan K, Li W, Lin F, Patrone MV, Raraigh KS, Sun L, Zhou YH, O'Neal WK, Sontag MK, Levy H, Durie PR, Rommens JM, Drumm ML, Wright FA, Strug LJ, Cutting GR, Knowles MR
Nature communications · 2015 · PMID 26417704 · open access

Questions about rs117230773

What is rs117230773?

rs117230773 is a single position in the genome, in or near the HLA-DRA gene. Published research associates it with lung disease severity in cystic fibrosis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs117230773 linked to?

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

Does having rs117230773 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 rs117230773 come from?

GWAS Catalog, Nat Commun 2015, PMID:26417704. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Lung disease severity in cystic fibrosis (rs117230773). MyGeneLog™. https://www.mygenelog.com/variants/rs117230773

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