Prothrombin haplotype associated with kidney stone disease in Northeastern Thai patients.
OBJECTIVE
To evaluate genetic variations associated with kidney stone disease in Northeastern Thai patients.


METHODS
Altogether, 67 single nucleotide polymorphisms (SNP) distributed within 8 candidate genes, namely TFF1, S100A8, S100A9, S100A12, AMBP, SPP1, UMOD, and F2, which encode stone inhibitor proteins, including trefoil factor 1, calgranulin (A, B, and C), bikunin, osteopontin, tamm-Horsfall protein, and prothrombin, respectively, were initially genotyped in 112 individuals each and in additional subjects to consist of 164 patients and 216 control subjects in total.


RESULTS
We found that minor allele and homozygous genotype frequencies of 8 of 10 SNPs distributed within the F2 gene were significantly higher in the control group than in the patient group. Two F2 haplotypes were found to be dually associated with kidney stone risk, one (TGCCGCCGCG) with increased disease risk and the other (CGTTCCGCTA) with decreased disease risk. However, these 2 haplotypes were associated with the disease risks in only the female, not the male, group.


CONCLUSIONS
The results of our study indicate that genetic variation of F2 is associated with kidney stone risk in Northeastern Thai female patients.
Division of Medical Molecular Biology, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Nanyawan
N
Rungroj
Suchai
S
Sritippayawan
Wanna
W
Thongnoppakhun
Atchara
A
Paemanee
Nunghathai
N
Sawasdee
Choochai
C
Nettuwakul
Nirinya
N
Sudtachat
Duangporn
D
Ungsupravate
Pairao
P
Praihirunkit
Duangporn
D
Chuawattana
Varaporn
V
Akkarapatumwong
Sombat
S
Borvornpadungkitti
Wattanachai
W
Susaengrat
Somkiat
S
Vasuvattakul
Prida
P
Malasit
Pa-thai
PT
Yenchitsomanus
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006239:Haplotypes; D006801:Humans; D007669:Kidney Calculi / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011516:Prothrombin / Q000235:genetics*; D013785:Thailand; D055815:Young Adult
D011516:Prothrombin