Genetics of common complex kidney stone disease: insights from genome-wide association studies.


:Kidney stone disease is a common disorder in Western countries that is associated with significant suffering, morbidity, and cost for the healthcare system. Numerous studies have demonstrated familial aggregation of nephrolithiasis and a twin study estimated the heritability to be 56%. Over the past decade, genome-wide association studies have uncovered several sequence variants that confer increased risk of common complex kidney stone disease. The first reported variants were observed at the CLDN14 locus in the Icelandic population. This finding has since been replicated in other populations. The CLDN14 gene is expressed in tight junctions of the thick ascending limb of the loop of Henle, where the protein is believed to play a role in regulation of calcium transport. More recent studies have uncovered variants at the ALPL, SLC34A1, CASR, and TRPV5 loci, the first two genes playing a role in renal handling of phosphate, while the latter two are involved in calcium homeostasis. Although genetic data have provided insights into the molecular basis of kidney stone disease, much remains to be learned about the contribution of genetic factors to stone formation. Nevertheless, the progress made in recent years indicates that exciting times lie ahead in genetic research on kidney stone disease.






Palsson R,Indridason OS,Edvardsson VO,Oddsson A




Has Abstract


2019-02-01 00:00:00














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    pub_type: 杂志文章,评审


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    authors: Dağgülli M,Sancaktutar AA,Dede O,Utanğaç MM,Bodakçi MN,Penbegül N,Hatipoğlu NK,Çakmakçı S

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    pub_type: 杂志文章


    authors: Sahin C,Sarikaya S,Basak K,Cetinel CA,Narter F,Eryildirim B,Saglam E,Sarica K

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  • Antioxidants inhibition of high plasma androgenic markers in the pathogenesis of ethylene glycol (EG)-induced nephrolithiasis in Wistar rats.

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    pub_type: 杂志文章


    authors: Naghii MR,Mofid M,Hedayati M,Khalagi K

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  • Treatment of renal stones with flexible ureteroscopy in preschool age children.

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    authors: Erkurt B,Caskurlu T,Atis G,Gurbuz C,Arikan O,Pelit ES,Altay B,Erdogan F,Yildirim A

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    pub_type: 杂志文章


    authors: Li D,Sha M,Chen L,Xiao Y,Lu J,Shao Y

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  • Three-dimensional mean stone density on non-contrast computed tomography can predict ureteroscopic lithotripsy outcome in ureteral stone cases.

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    authors: Ran R,Zhang R,Xie Y,Yin Z

    更新日期:2020-08-08 00:00:00

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    authors: Fakier S,Rodgers A,Jackson G

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    pub_type: 杂志文章


    authors: Yang D,Tiselius HG,Lan C,Chen D,Chen K,Ou L,Liu Y,Xu S,Zeng G,Lei M,Wu W

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    authors: Koulivand L,Mohammadi M,Ezatpour B,Salehi R,Markazi S,Dashti S,Kheirollahi M

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    authors: Garofalo M,Pultrone CV,Schiavina R,Brunocilla E,Sanguedolce F,Borghesi M,Rocca C,Del Prete C,Morselli-Labate AM,Paccapelo A,Martorana G

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    authors: Klimesova K,Whittamore JM,Hatch M

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    pub_type: 杂志文章,评审


    authors: O'Kell AL,Grant DC,Khan SR

    更新日期:2017-08-01 00:00:00

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    pub_type: 杂志文章,meta分析


    authors: Zeng T,Tiselius HG,Huang J,Deng T,Zeng G,Wu W

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  • Does extracorporeal shock wave lithotripsy-related pain get affected by menstrual cycle and menopause?

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    authors: Islamoglu E,Tas S,Karamik K,Yalcinkaya S,Tokgoz H,Savas M

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  • The effect of climate variability on urinary stone attacks: increased incidence associated with temperature over 18 °C: a population-based study.

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    pub_type: 杂志文章


    authors: Park HK,Bae SR,Kim SE,Choi WS,Paick SH,Ho K,Kim HG,Lho YS

    更新日期:2015-02-01 00:00:00

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    pub_type: 杂志文章


    authors: Raja A,Wood F,Joshi HB

    更新日期:2020-06-01 00:00:00

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    pub_type: 杂志文章


    authors: Stokes F,Acquaviva-Bourdain C,Hoppe B,Lieske JC,Lindner E,Toulson G,Vaz FM,Rumsby G

    更新日期:2020-12-01 00:00:00

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    pub_type: 杂志文章,评审


    authors: Wu XR

    更新日期:2015-01-01 00:00:00

  • Early ureteral catheter removal after ureteroscopic lithotripsy using ureteral access sheath.

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    pub_type: 杂志文章


    authors: Kawahara T,Ito H,Terao H,Kakizoe M,Kato Y,Uemura H,Kubota Y,Matsuzaki J

    更新日期:2013-02-01 00:00:00