title: Association Study of Reported Significant Loci at 5q35.3, 7p14.3, 13q14.1 and 16p12.3 with Urolithiasis in Chinese Han Ethnicity.
abstract: In this study, we aimed to validate the association of 8 reported significant loci at 5q35.3, 7p14.3, 13q14.1 and 16p12.3 with urolithiasis in Chinese Han population. We performed case-control association analysis using 624 patients with nephrolithiasis and 1008 control subjects. We selected single-nucleotide polymorphism (SNPs) including rs12654812 and rs11746443 from 5q32.3; rs12669187 and rs1000597 from 7q14.3; rs7981733, rs4142110 and rs17646069 from 13q14.1 and rs4293393 from 16p12.3 which were previously reported to be associated with nephrolithiasis. We found none of these eight reported SNPs were significant associated with urolithiasis risk in Chinese Han population, which suggested that differences could exist in the mechanisms of calcium urolithiasis between Chinese and Japanese Ethnics. The A allele of rs12669187 was significantly correlated with increased level of serum magnesium. The C allele of rs1000597 was associated with higher levels of serum creatinine, uric acid, calcium and lower urine pH level. The T allele of rs4142110 was correlated with higher levels of serum magnesium, phosphorus, and lower AKP level. The G alleles of rs4293393 was associated with higher serum CO2level. The risk alleles of these SNPs were proved to be associated with the electrolytes metabolism that may result in the formation of urolithiasis.
authors.affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai 200040, PR China.|Institute of Urology, Fudan University, Shanghai 200040, PR China.
authors.forename: Lujia
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai 200040, PR China.|Institute of Urology, Fudan University, Shanghai 200040, PR China.
authors.forename: Chenchen
authors.initials: C
authors.lastname: Feng
authors.affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai 200040, PR China.|Institute of Urology, Fudan University, Shanghai 200040, PR China.
authors.forename: Guanxiong
authors.initials: G
authors.lastname: Ding
authors.affiliation: Institute of Urology, Fudan University, Shanghai 200040, PR China.
authors.forename: Xiaoling
authors.initials: X
authors.lastname: Lin
authors.affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai 200040, PR China.|Institute of Urology, Fudan University, Shanghai 200040, PR China.
authors.forename: Peng
authors.initials: P
authors.lastname: Gao
authors.affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai 200040, PR China.|Institute of Urology, Fudan University, Shanghai 200040, PR China.
authors.forename: Haowen
authors.initials: H
authors.lastname: Jiang
authors.affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai 200040, PR China.|Institute of Urology, Fudan University, Shanghai 200040, PR China.|Center for Genomic Cancer Research, North Shore University Health System, Evanston, Illinois, USA.
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Xu
authors.affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai 200040, PR China.|Institute of Urology, Fudan University, Shanghai 200040, PR China.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Ding
authors.affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai 200040, PR China.|Institute of Urology, Fudan University, Shanghai 200040, PR China.
authors.forename: Zhong
authors.initials: Z
authors.lastname: Wu
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D002882:Chromosomes, Human, Pair 13; D002885:Chromosomes, Human, Pair 16; D002895:Chromosomes, Human, Pair 5; D002897:Chromosomes, Human, Pair 7; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D052878:Urolithiasis / Q000235:genetics*