Heritability of Raynaud's phenomenon and vascular responsiveness to cold: A study of adult female twins

Cherkas, Lynn; Williams, Frances; Carter, L; Howell, Kevin; Black, CM; Spector, Tim D.; Macgregor, Alexander

doi:10.1002/art.22626

Cited by 27 publications

(13 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Interestingly, our heritability estimate for the CP was lower than heritability for the cold hypersensitivity in the hands and feet (64%; 95% CI [55, 72]) reported in Hur et al (2012) or heritability estimates for RP (55%; 95% CI [40, 70]) or the cold sensitivity (53%; 95% CI [42, 64)] found in Cherkas et al (2007), with little overlapping of confidence intervals. The discrepancies in findings among the three studies may be due to the differences in measures, samples, or age of the twins.…”

Section: Discussioncontrasting

confidence: 82%

Heritability of Cold and Heat Patterns: A Twin Study

Hur

Jin

et al. 2018

Twin Res Hum Genet

View full text Add to dashboard Cite

In traditional East Asian medicine, cold-heat patterns have been widely used in the diagnosis and treatment of patients suffering from various diseases. The present study aimed to estimate the heritability of cold-heat patterns. Trained interviewers administered a cold-heat pattern questionnaire to 1,753 twins (mean age = 19.1 ± 3.1 years) recruited throughout South Korea. Correlations for the cold pattern (CP) were 0.42 (95% CI [0.28, 0.54]) for monozygotic (MZ) males, 0.16 (95% CI [-0.08, 0.39]) for dizygotic (DZ) males, 0.40 (95% CI [0.30, 0.49]) for MZ females, 0.30 (95% CI [0.12, 0.45]) for DZ females, and 0.07 (95% CI [-0.11, 0.25]) for opposite-sex DZ twins. The corresponding twin correlations for the heat pattern (HP) were 0.38 (95% CI [0.24, 0.51]), -0.22 (95% CI [-0.43, 0.02]), 0.34 (95% CI [0.24, 0.43]), 0.21 (95% CI [0.03, 0.37]), and 0.08 (95% CI [-0.10, 0.26]), respectively. These patterns of twin correlations suggested significant genetic effects on the HP and the CP. Model-fitting analysis revealed that heritability estimates in both sexes were 40% (95% CI [38, 42]) for the CP and 33% (95% CI [25, 42]) for the HP, with the remaining variances attributable to unique environmental variances. These estimates did not vary significantly with age during adolescence and young adulthood.

show abstract

Section: Discussioncontrasting

confidence: 82%

Heritability of Cold and Heat Patterns: A Twin Study

Hur

Jin

et al. 2018

Twin Res Hum Genet

View full text Add to dashboard Cite

show abstract

“…Using the Utah Population Database, the familial RR for SSc was approximately 2 to 3 in first- to third-degree relatives, but there is no apparent association between the magnitude of RR and genetic relatedness [ 32 ]. Heritability of SSc has not been assessed before; however, a twin study comprising 702 monozygotic and 727 dizygotic twin pairs reported a significant heritability (0.53) for Raynaud’s phenomenon [ 33 ].…”

Section: Discussionmentioning

confidence: 99%

Familial risk of systemic sclerosis and co-aggregation of autoimmune diseases in affected families

Kuo

Luo

et al. 2016

Arthritis Res Ther

View full text Add to dashboard Cite

BackgroundSystemic sclerosis (SSc) is a rare and devastating disease affecting skin and internal organs. Familial aggregation of SSc and co-aggregation with other autoimmune diseases is rarely reported.MethodsWe identified 23,658,577 beneficiaries registered with the National Health Insurance database in 2010, 1891 of whom had SSc. We identified 21,009,551 parent–child relationships and 17,168,340 full sibling pairs. The familial risks of SSc and other autoimmune diseases and familial transmission were estimated.ResultsThe prevalence of SSc in the general population was 0.008 %. There are 3801 individuals had at least one first-degree relative with SSc, among them 3 people had SSc which was equivalent to a prevalence of 0.08 %. The adjusted relative risk (RR) (95 % CI) for SSc was 81.21 (11.40–579.72) for siblings of SSc patients. The familial transmission (genetic plus shared environmental contribution to total phenotypic variance of SSc) was 0.72. However, 84.1 % of patients were expected to be sporadic cases. The RR (95 % CI) in first-degree relatives of SSc patients was 2.64 (1.46–4.75) for rheumatoid arthritis, 6.51 (4.05–10.46) for systemic lupus erythematosus, 2.77 (1.04–7.35) for Sjögren’s syndrome, 8.05 (2.03–31.92) for idiopathic inflammatory myositis, and 1.52 (1.15–2.01) for psoriasis.ConclusionsThe risks of SSc and other autoimmune diseases are increased in relatives of people with SSc, and family factors explain over two-thirds of the phenotypic variance of the disease. These findings may be useful in counselling families of patients with SSc and for further genetic studies.

show abstract

“…RP status was defined categorically as present or absent using this definition. We have used this method of diagnosing RP in other published genetic studies [ 4 , 17 ]; and similarly other studies have used responses from questionnaires to diagnose RP [ 3 , 18 ].…”

Section: Methodsmentioning

confidence: 99%

“…While the aetiology of RP is unknown, there is an associated genetic predisposition as demonstrated by two studies indicating greater concordance amongst monozygotic (MZ) than dizygotic (DZ) twins. Heritability for RP is reported as 55–64% [ 4 , 5 ].…”

Section: Introductionmentioning

confidence: 99%

Association of Raynaud’s phenomenon with a polymorphism in the NOS1 gene

Munir¹,

Freidin²,

Brain³

et al. 2018

PLoS ONE

View full text Add to dashboard Cite

BackgroundRaynaud’s phenomenon (RP) describes the phenomenon of recurrent vasospasm of digital arteries, associated with skin colour changes: pallor, cyanosis and erythema. Twin studies have indicated a genetic predisposition for RP; however, the precise aetiology of RP remains unknown. It is thought that genetic variation in temperature-responsive or vasospastic genes might underlie RP so performed a candidate gene study in a large, population based sample. We assessed the association between RP and single nucleotide polymorphisms (SNPs) in the TRPA1, TRPM8, CALCA, CALCB and NOS1 genes.MethodsAnalysis included a total of 4276 individuals from the TwinsUK database. RP status had been determined using validated, self-administered questionnaires and was diagnosed in 640 individuals (17.6%). 66 tag SNPs across the candidate genes were tested for association with RP status using a linear regression model, accounting for covariates. Adjustment was made for multiple testing. RegulomeDB and GTEx databases were used to assess possible functional effects of the polymorphisms.ResultsNominally significant associations between RP and four SNPs in NOS1 and one in CALCB were identified. After permutation testing, rs527590 SNP in NOS1 passed the significance threshold. RegulomeDB scores indicated an unlikely functional effect of this variant, while the survey of the GTEx database found the SNP and several variants in linkage disequilibrium to be cis-eQTLs in skin.ConclusionResults indicate that RP is associated with variation in gene NOS1. This finding may be related to the observation that the significant SNP in NOS1 is known to exhibit functional influence on the gene expression.

show abstract

Heritability of Raynaud's phenomenon and vascular responsiveness to cold: A study of adult female twins

Cited by 27 publications

References 15 publications

Heritability of Cold and Heat Patterns: A Twin Study

Heritability of Cold and Heat Patterns: A Twin Study

Familial risk of systemic sclerosis and co-aggregation of autoimmune diseases in affected families

Association of Raynaud’s phenomenon with a polymorphism in the NOS1 gene

Contact Info

Product

Resources

About