title: Genome wide association study of uric acid in Indian population and interaction of identified variants with Type 2 diabetes.
abstract: Abnormal level of Serum Uric Acid (SUA) is an important marker and risk factor for complex diseases including Type 2 Diabetes. Since genetic determinant of uric acid in Indians is totally unexplored, we tried to identify common variants associated with SUA in Indians using Genome Wide Association Study (GWAS). Association of five known variants in SLC2A9 and SLC22A11 genes with SUA level in 4,834 normoglycemics (1,109 in discovery and 3,725 in validation phase) was revealed with different effect size in Indians compared to other major ethnic population of the world. Combined analysis of 1,077 T2DM subjects (772 in discovery and 305 in validation phase) and normoglycemics revealed additional GWAS signal in ABCG2 gene. Differences in effect sizes of ABCG2 and SLC2A9 gene variants were observed between normoglycemics and T2DM patients. We identified two novel variants near long non-coding RNA genes AL356739.1 and AC064865.1 with nearly genome wide significance level. Meta-analysis and in silico replication in 11,745 individuals from AUSTWIN consortium improved association for rs12206002 in AL356739.1 gene to sub-genome wide association level. Our results extends association of SLC2A9, SLC22A11 and ABCG2 genes with SUA level in Indians and enrich the assemblages of evidence for SUA level and T2DM interrelationship.
authors.affiliation: Genomics and Molecular Medicine Unit, CSIR-Institute of Genomics and Integrative Biology, New Delhi 110020, India.|Academy of Scientific and Innovative Research, CSIR-Institute of Genomics and Integrative Biology Campus, New Delhi - 110020, India.
authors.forename: Anil K
authors.initials: AK
authors.lastname: Giri
authors.affiliation: Genomics and Molecular Medicine Unit, CSIR-Institute of Genomics and Integrative Biology, New Delhi 110020, India.
authors.forename: Priyanka
authors.initials: P
authors.lastname: Banerjee
authors.affiliation: Genomics and Molecular Medicine Unit, CSIR-Institute of Genomics and Integrative Biology, New Delhi 110020, India.|Academy of Scientific and Innovative Research, CSIR-Institute of Genomics and Integrative Biology Campus, New Delhi - 110020, India.
authors.forename: Shraddha
authors.initials: S
authors.lastname: Chakraborty
authors.affiliation: Genomics and Molecular Medicine Unit, CSIR-Institute of Genomics and Integrative Biology, New Delhi 110020, India.|Academy of Scientific and Innovative Research, CSIR-Institute of Genomics and Integrative Biology Campus, New Delhi - 110020, India.
authors.forename: Yasmeen
authors.initials: Y
authors.lastname: Kauser
authors.affiliation: Genomics and Molecular Medicine Unit, CSIR-Institute of Genomics and Integrative Biology, New Delhi 110020, India.|Academy of Scientific and Innovative Research, CSIR-Institute of Genomics and Integrative Biology Campus, New Delhi - 110020, India.
authors.forename: Aditya
authors.initials: A
authors.lastname: Undru
authors.affiliation: Genomics and Molecular Medicine Unit, CSIR-Institute of Genomics and Integrative Biology, New Delhi 110020, India.
authors.forename: Suki
authors.initials: S
authors.lastname: Roy
authors.affiliation: Genomics and Molecular Medicine Unit, CSIR-Institute of Genomics and Integrative Biology, New Delhi 110020, India.
authors.forename: Vaisak
authors.initials: V
authors.lastname: Parekatt
authors.affiliation: Human Genetics Unit, Indian Statistical Institute, Kolkata - 700108, India.
authors.forename: Saurabh
authors.initials: S
authors.lastname: Ghosh
authors.affiliation: Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi 110029, India.
authors.forename: Nikhil
authors.initials: N
authors.lastname: Tandon
authors.affiliation: Genomics and Molecular Medicine Unit, CSIR-Institute of Genomics and Integrative Biology, New Delhi 110020, India.|Academy of Scientific and Innovative Research, CSIR-Institute of Genomics and Integrative Biology Campus, New Delhi - 110020, India.
authors.forename: Dwaipayan
authors.initials: D
authors.lastname: Bharadwaj
mesh_terms: D000070997:ATP Binding Cassette Transporter, Subfamily G, Member 2 / Q000097:blood / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005786:Gene Expression Regulation; D015894:Genome, Human; D055106:Genome-Wide Association Study; D051246:Glucose Transport Proteins, Facilitative / Q000097:blood / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D009363:Neoplasm Proteins / Q000097:blood / Q000235:genetics*; D029362:Organic Anion Transporters, Sodium-Independent / Q000097:blood / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D062085:RNA, Long Noncoding / Q000097:blood / Q000235:genetics*; D014527:Uric Acid / Q000097:blood
chemical_list: C116614:ABCG2 protein, human; D000070997:ATP Binding Cassette Transporter, Subfamily G, Member 2; D051246:Glucose Transport Proteins, Facilitative; D009363:Neoplasm Proteins; D029362:Organic Anion Transporters, Sodium-Independent; D062085:RNA, Long Noncoding; C427207:SLC22A11 protein, human; C411811:SLC2A9 protein, human; D014527:Uric Acid