Article
Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients.
PloS one - 1 Jan 2017
Al-Aama Jumana Yousuf, Shaik Noor Ahmad, Banaganapalli Babajan, Salama Mohammed A, Rashidi Omran, Sahly Ahmed N, Mohsen Mohammed O, Shawoosh Harbi A, Shalabi Hebah Ahmad, Edreesi Mohammad Al, Alharthi Sameer E, Wang Jun, Elango Ramu, Saadah Omar I
Abstract excerpt
Celiac disease (CD), a multi-factorial auto-inflammatory disease of the small intestine, is known to occur in both sporadic and familial forms. Together HLA and Non-HLA genes can explain up to 50% of CD's heritability. In order to discover the missing heritability due to rare variants, we have exome sequenced a consanguineous Saudi family presenting CD in an autosomal recessive (AR) pattern. We have identified a...
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