Phenotypic familial aggregation in chronic chilblains

Ibo H Souwer; Deborah Smaal; Jacobus H J Bor; Nine Knoers; Antoine L M Lagro-Janssen

doi:10.1093/fampra/cmw052

Phenotypic familial aggregation in chronic chilblains

Ibo H Souwer
, Deborah Smaal
, Jacobus H J Bor
, Nine Knoers
, Antoine L M Lagro-Janssen

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

BACKGROUND: Our clinical observations and two earlier studies indicate familial clustering to be involved in chronic chilblains. Demonstrating phenotypic familial aggregation is a next step to investigate the origin of familial clustering.

OBJECTIVE: This study was initiated to assess evidence for phenotypic familial aggregation in chronic chilblains.

METHODS: Using a case-control family design in a primary care setting, we computed the familial relative risk of at least one episode of chronic chilblains during life with 95% confidence intervals (CIs). The study population consisted of 192 relatives of 31 case probands (at least one confirmed episode of chronic chilblains). The control population consisted of 178 relatives of 31 sex- and age-matched index controls (no history of chronic chilblains).

RESULTS: The familial relative risk of chronic chilblains was 3.6 (95% CI 1.9-7.3). Additional sensitivity analysis shows similar figures.

CONCLUSION: We demonstrate robust phenotypic familial aggregation in chronic chilblains.

Original language	English
Pages (from-to)	461-465
Journal	Family Practice
Volume	33
Issue number	5
DOIs	https://doi.org/10.1093/fampra/cmw052
Publication status	Published - 6 Jul 2016

Keywords

Case–control study
cold temperature
chilblains
disease susceptibility
general practice
genetics

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10.1093/fampra/cmw052

cmw052Final published version, 180 KBLicence: Taverne

Cite this

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title = "Phenotypic familial aggregation in chronic chilblains",

abstract = "BACKGROUND: Our clinical observations and two earlier studies indicate familial clustering to be involved in chronic chilblains. Demonstrating phenotypic familial aggregation is a next step to investigate the origin of familial clustering.OBJECTIVE: This study was initiated to assess evidence for phenotypic familial aggregation in chronic chilblains.METHODS: Using a case-control family design in a primary care setting, we computed the familial relative risk of at least one episode of chronic chilblains during life with 95\% confidence intervals (CIs). The study population consisted of 192 relatives of 31 case probands (at least one confirmed episode of chronic chilblains). The control population consisted of 178 relatives of 31 sex- and age-matched index controls (no history of chronic chilblains).RESULTS: The familial relative risk of chronic chilblains was 3.6 (95\% CI 1.9-7.3). Additional sensitivity analysis shows similar figures.CONCLUSION: We demonstrate robust phenotypic familial aggregation in chronic chilblains.",

keywords = "Case–control study, cold temperature, chilblains, disease susceptibility, general practice, genetics",

author = "Souwer, \{Ibo H\} and Deborah Smaal and Bor, \{Jacobus H J\} and Nine Knoers and Lagro-Janssen, \{Antoine L M\}",

year = "2016",

month = jul,

day = "6",

doi = "10.1093/fampra/cmw052",

language = "English",

volume = "33",

pages = "461--465",

journal = "Family Practice",

issn = "0263-2136",

publisher = "Oxford University Press",

number = "5",

}

TY - JOUR

T1 - Phenotypic familial aggregation in chronic chilblains

AU - Souwer, Ibo H

AU - Smaal, Deborah

AU - Bor, Jacobus H J

AU - Knoers, Nine

AU - Lagro-Janssen, Antoine L M

PY - 2016/7/6

Y1 - 2016/7/6

N2 - BACKGROUND: Our clinical observations and two earlier studies indicate familial clustering to be involved in chronic chilblains. Demonstrating phenotypic familial aggregation is a next step to investigate the origin of familial clustering.OBJECTIVE: This study was initiated to assess evidence for phenotypic familial aggregation in chronic chilblains.METHODS: Using a case-control family design in a primary care setting, we computed the familial relative risk of at least one episode of chronic chilblains during life with 95% confidence intervals (CIs). The study population consisted of 192 relatives of 31 case probands (at least one confirmed episode of chronic chilblains). The control population consisted of 178 relatives of 31 sex- and age-matched index controls (no history of chronic chilblains).RESULTS: The familial relative risk of chronic chilblains was 3.6 (95% CI 1.9-7.3). Additional sensitivity analysis shows similar figures.CONCLUSION: We demonstrate robust phenotypic familial aggregation in chronic chilblains.

AB - BACKGROUND: Our clinical observations and two earlier studies indicate familial clustering to be involved in chronic chilblains. Demonstrating phenotypic familial aggregation is a next step to investigate the origin of familial clustering.OBJECTIVE: This study was initiated to assess evidence for phenotypic familial aggregation in chronic chilblains.METHODS: Using a case-control family design in a primary care setting, we computed the familial relative risk of at least one episode of chronic chilblains during life with 95% confidence intervals (CIs). The study population consisted of 192 relatives of 31 case probands (at least one confirmed episode of chronic chilblains). The control population consisted of 178 relatives of 31 sex- and age-matched index controls (no history of chronic chilblains).RESULTS: The familial relative risk of chronic chilblains was 3.6 (95% CI 1.9-7.3). Additional sensitivity analysis shows similar figures.CONCLUSION: We demonstrate robust phenotypic familial aggregation in chronic chilblains.

KW - Case–control study

KW - cold temperature

KW - chilblains

KW - disease susceptibility

KW - general practice

KW - genetics

U2 - 10.1093/fampra/cmw052

DO - 10.1093/fampra/cmw052

M3 - Article

C2 - 27382984

SN - 0263-2136

VL - 33

SP - 461

EP - 465

JO - Family Practice

JF - Family Practice

IS - 5

ER -

Phenotypic familial aggregation in chronic chilblains

Abstract

Keywords

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