Association of Parental Consanguinity With Papillary Thyroid Carcinoma: A Case-Control Study

J Clin Endocrinol Metab. 2021 Jun 16;106(7):e2769-e2774. doi: 10.1210/clinem/dgab071.

Abstract

Context: Papillary thyroid carcinoma (PTC) is the most common type of nonmedullary thyroid carcinoma. Uncommonly, PTC is associated with multiple genetic alterations and chromosomal abnormalities and displays familial patterns of inheritance. Parental consanguinity increases susceptibility to many genetic disorders.

Objective: This work aimed to investigate the association of parental consanguinity with PTC.

Methods: This case-control study of PTC patients compared with healthy controls took place in a tertiary referral hospital. We recruited 200 PTC patients who were managed at the endocrinology outpatient clinics of the Jordan University Hospital, and we recruited 515 healthy controls from a nonclinical setting. We interviewed all participants and collected sociodemographic data. We reviewed the family pedigrees of each participant four generations back and excluded any participant who was related. We established whether the parents of each participant were first cousins, first cousins once removed, second cousins, or unrelated. We then used binary logistic regression to assess the association of parental consanguinity with PTC adjusted for age, sex, smoking status, body mass index, and parental education.

Results: We recruited 715 participants. The numbers of PTC patients and healthy controls were 200 (28.0%) and 515 (72.0%), respectively. The rate of parental consanguinity was 25.5% in PTC patients and 12.2% in healthy controls. Parental consanguinity was significantly associated with PTC (adjusted odds ratio, 2.60; 95% CI, 1.63-4.17; P < .001).

Conclusion: Parental consanguinity is a risk factor for PTC. Our findings should be considered during familial risk assessment and genetic counseling, especially in populations with high rates of consanguinity.

Keywords: case-control studies; consanguinity; papillary thyroid cancer; risk factors.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Carcinoma, Papillary / genetics*
  • Case-Control Studies
  • Consanguinity*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Inheritance Patterns / genetics*
  • Logistic Models
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Risk Factors
  • Thyroid Neoplasms / genetics*