title: A single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis.
abstract: Various conditions including distal renal tubular acidosis (dRTA) can induce stone formation in the kidney. dRTA is characterized by an impairment of urine acidification in the distal nephron. dRTA is caused by variations in genes functioning in intercalated cells including SLC4A1/AE1/Band3 transcribing two kinds of mRNAs encoding the Cl-/HCO3-exchanger in erythrocytes and that expressed in α-intercalated cells (kAE1). With the acid-loading test, 25% of urolithiasis patients were diagnosed with incomplete dRTA. In erythroid intron 3 containing the promoter region of kAE1, rs999716 SNP showed a significantly higher minor allele A frequency in incomplete dRTA compared with non-dRTA patients. The promoter regions of the kAE1 gene with the minor allele A at rs999716 downstream of the TATA box showed reduced promoter activities compared that with the major allele G. Patients with the A allele at rs999716 may express less kAE1 mRNA and protein in the intercalated cells, developing incomplete dRTA.
authors: Department of Urology, Japan Organization of Occupational Health and Safety, Kanto Rosai Hospital, 1-1 Kizukisumiyoshi-cho, Nakahara-ku, Kawasaki 211-8510, Japan.
authors: Takumi
authors: T
authors: Takeuchi
authors: Department of Urology, Japan Organization of Occupational Health and Safety, Kanto Rosai Hospital, 1-1 Kizukisumiyoshi-cho, Nakahara-ku, Kawasaki 211-8510, Japan.
authors: Mami
authors: M
authors: Hattori-Kato
authors: Department of Urology, Japan Organization of Occupational Health and Safety, Kanto Rosai Hospital, 1-1 Kizukisumiyoshi-cho, Nakahara-ku, Kawasaki 211-8510, Japan.
authors: Yumiko
authors: Y
authors: Okuno
authors: Division of Molecular Pathology, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan.
authors: Atsushi
authors: A
authors: Kanatani
authors: Department of Urology, Japan Organization of Occupational Health and Safety, Kanto Rosai Hospital, 1-1 Kizukisumiyoshi-cho, Nakahara-ku, Kawasaki 211-8510, Japan.
authors: Masayoshi
authors: M
authors: Zaitsu
authors: Department of Urology, Japan Organization of Occupational Health and Safety, Kanto Rosai Hospital, 1-1 Kizukisumiyoshi-cho, Nakahara-ku, Kawasaki 211-8510, Japan.
authors: Koji
authors: K
authors: Mikami
mesh_terms: D000141:Acidosis, Renal Tubular / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000368:Aged; D000483:Alleles; D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics*; D001483:Base Sequence; D001639:Bicarbonates / Q000097:blood; D005260:Female; D005787:Gene Frequency; D005919:Glomerular Filtration Rate; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007668:Kidney / Q000378:metabolism*; D008297:Male; D008670:Metals / Q000097:blood; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D052878:Urolithiasis / Q000175:diagnosis
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D001639:Bicarbonates; D008670:Metals