Association of the exon 8 and intron 8 polymorphisms of the human urate transporter 1 gene with primary hyperuricemia in Chinese Han population / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 659-663, 2010.
Article
de Zh
| WPRIM
| ID: wpr-234343
Bibliothèque responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the association of the exon 8 and intron 8 polymorphisms of the human urate transporter 1 gene SLC22A12 with primary hyperuricemia (HUA) in Chinese Han population.</p><p><b>METHODS</b>Genomic DNA from 215 individuals with HUA and 323 controls was extracted. The exon 8 and intron 8 of the SLC22A12 gene was amplified by polymerase chain reaction (PCR). PCR product was sequenced directly. Single nucleotide polymorphisms (SNPs) were detected and the association of the SNPs with primary HUA was assessed.</p><p><b>RESULTS</b>(1) Two SNPs were identified, they were T1309C located in exon 8 (rs7932775) and -103A to G located in intron 8. Pairwise linkage disequilibrium analysis displayed an absolute linkage disequilibrium between the two SNPs (D'= 1). (2) The minor allele frequencies for both SNPs were 51.9% in HUA patients, which were significantly different from that of controls (42.4%)(P< 0.01). (3) The genotype frequencies of GG+ GA and CC+ CT in HUA patients were significantly higher than that in controls (80.0% vs. 69.0%, P< 0.01). (4) Individuals of both GG+ GA and CC+ CT genotypes had 1.79 fold increase of HUA risk (OR= 1.794, 95%CI: 1.19-2.70).</p><p><b>CONCLUSION</b>These findings indicated that T1309C and -103A to G polymorphisms of the SLC22A12 gene were associated with primary HUA in Chinese Han population.</p>
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Données de séquences moléculaires
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Séquence nucléotidique
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Introns
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Ethnies
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Études cas-témoins
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Déséquilibre de liaison
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Chine
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Exons
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Polymorphisme de nucléotide simple
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Transporteurs d'anions organiques
Type d'étude:
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limites du sujet:
Adult
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Aged
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Aged80
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Female
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Humans
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Male
Pays comme sujet:
Asia
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2010
Type:
Article